COL1A1 ELISA Kit for Human(Homo sapiens) | EIAab.comCOL1A1 ELISA Kit for Human(Homo sapiens)

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COL1A1 (Gene name),

Collagen alpha-1(I) chain (Protein name ), CO1A1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

Citations (3)

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Gene name:

COL1A1;

Protein name:

Collagen alpha-1(I) chain;

Alternative:

Alpha-1 type I collagen;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2 (By similarity). Interacts with TRAM2.

Function:

Type I collagen is a member of group I collagen (fibrillar forming collagen).

Subcellular Location:

Secreted extracellular space extracellular matrix

Protein Attributes:

Sequence length:

1464

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

900:

950:

1000:

1050:

1100:

1150:

1200:

1250:

1300:

1350:

1400:

1450:

1464:

DQEFGFDVGP | VCFL

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

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Related Databases

SMR:

P02452

MIM:

114000

Pfam:

PF01410

KEGG:

hsa:1277

String:

P02452

UniGene:

Hs.172928

Uniprot:

P02452

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ELISA Kit for Human Collagen alpha-1(I) chain

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E0571h

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ELISA Kit for Human Collagen alpha-1(I) chain

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E0571r

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ELISA Kit for Human Collagen alpha-1(I) chain

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ELISA Kit for Human Collagen alpha-1(I) chain

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E0571b

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ELISA Kit for Human Collagen alpha-1(I) chain

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E0571m

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ELISA Kit for Human Collagen alpha-1(I) chain

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E0571c

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ELISA Kit for Human Collagen alpha-1(I) chain

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E0571d

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CLIA Kit for Human Collagen alpha-1(I) chain

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U0571r

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96T

CLIA Kit for Human Collagen alpha-1(I) chain

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U0571c

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CLIA Kit for Human Collagen alpha-1(I) chain

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U0571m

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CLIA Kit for Human Collagen alpha-1(I) chain

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U0571h

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CLIA Kit for Human Collagen alpha-1(I) chain

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U0571b

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CLIA Kit for Human Collagen alpha-1(I) chain

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CLIA Kit for Human Collagen alpha-1(I) chain

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U0571d

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Polyclonal Antibody for Human Collagen alpha-1(I) chain

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P0571Rb-m

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40ug/0.2ml

Polyclonal Antibody for Human Collagen alpha-1(I) chain

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P0571Rb-r

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Polyclonal Antibody for Human Collagen alpha-1(I) chain

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P0571Rb-h

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Monoclonal Antibody for Human Collagen alpha-1(I) chain

Protein for Human Collagen alpha-1(I) chain

Cat.:

R0571h

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Packing:

1mg

Purity:

>90%

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

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Recovery

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Linearity

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Citations

[1].

"Low-frequency, low-magnitude vibrations (LFLM) enhances chondrogenic differentiation potential of human adipose derived mesenchymal stromal stem cells"

Marycz K, Lewandowski D, Tomaszewski K A, et al.

From:PeerJ

[2].

"Polyurethane/polylactide-based electrospun nonwovens as carriers for human adipose derived stromal stem cells and chondrogenic progenitor cells"

Marycz K, Marędziak M, Grzesiak J, et al.

From:Polymer-Plastics Technology and Engineering

[3].

"The effect of low static magnetic field on osteogenic and adipogenic differentiation potential of human adipose stromal/stem cells"

M Marędziak, A Śmieszek, K A. Tomaszewski , et al.

From:Journal of Magnetism and Magnetic Materials

References

1.

Dalgleish R.
Submitted (1996-07) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANTS ALA-1019; ALA-1075; LYS-1391 AND SER-1434
2.

"Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations."
Korkko J.M. , Ala-Kokko L. , De Paepe A. , Nuytinck L. , Earley J.J. , Prockop D.J.
Am. J. Hum. Genet.62:98-110(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS ALA-1075 AND LYS-1391
3.

Korkko J.M. , Earley J.J. , Nuytinck L. , DePaepe A. , Prockop D.J. , Ala-Kokko L.
Submitted (1999-05) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SEQUENCE REVISION TO 1049
4.

Totoki Y. , Toyoda A. , Takeda T. , Sakaki Y. , Tanaka A. , Yokoyama S. , Ohara O. , Nagase T. , Kikuno R.F.
Submitted (2005-03) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA];VARIANT ALA-1075
tissue: Spleen.
5.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA];VARIANTS ALA-1075; ARG-1438 AND HIS-1460
tissue: Brain.
6.

"Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1)."
D'Alessio M. , Bernard M.P. , Pretorius P.J. , de Wet W. , Ramirez F. , Pretorious P.J.
Gene67:105-115(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-589
7.

"Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen."
Tromp G. , Kuivaniemi H. , Stacey A. , Shikata H. , Baldwin C.T. , Jaenisch R. , Prockup D.J.
Biochem. J.253:919-922(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-472
8.

"Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons."
Chu M.-L. , de Wet W.J. , Bernard M.P. , Ding J.-F. , Morabito M. , Myers J. , Williams C. , Ramirez F.
Nature310:337-340(1984) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-181
9.

"DNA sequences in the first intron of the human pro-alpha 1(I) collagen gene enhance transcription."
Rossouw C.M.S. , Vergeer W.P. , du Plooy S.J. , Bernard M.P. , Ramirez F. , de Wet W.
J. Biol. Chem.262:15151-15157(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-44
10.

"Fine structural analysis of the human pro-alpha 1 (I) collagen gene. Promoter structure, AluI repeats, and polymorphic transcripts."
Chu M.-L. , de Wet W. , Bernard M.P. , Ramirez F.
J. Biol. Chem.260:2315-2320(1985) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-34
11.

"Regulatory elements in the first intron contribute to transcriptional control of the human alpha 1(I) collagen gene."
Bornstein P. , McKay J. , Morishima J.K. , Devarayalu S. , Gelinas R.E.
Proc. Natl. Acad. Sci. U.S.A.84:8869-8873(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-34
12.

"In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII."
Wirtz M.K. , Keene D.R. , Hori H. , Glanville R.W. , Steinmann B. , Rao V.H. , Hollister D.W.
J. Biol. Chem.265:6312-6317(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 33-52
13.

"A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII."
Weil D. , D'Alessio M. , Ramirez F. , de Wet W. , Cole W.G. , Chan D. , Bateman J.F.
EMBO J.8:1705-1710(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE OF 156-183
14.

"Isolation and characterization of the cyanogen bromide peptides from the alpha 1 and alpha 2 chains of human skin collagen."
Click E.M. , Bornstein P.
Biochemistry9:4699-4706(1970) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 162-301;ALLYSINE AT LYS-170;PYROGLUTAMATE FORMATION AT GLN-162
tissue: Skin.
15.

"A critical crosslink region in human-bone-derived collagen type I. Specific cleavage site at residue Leu95."
Baetge B. , Notbohm H. , Diebold J. , Lehmann H. , Bodo M. , Deutzmann R. , Muller P.K.
Eur. J. Biochem.192:153-159(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 175-187 AND 274-289
16.

"A comparative study of glycopeptides derived from selected vertebrate collagens. A possible role of the carbohydrate in fibril formation."
Morgan P.H. , Jacobs H.G. , Segrest J.P. , Cunningham L.W.
J. Biol. Chem.245:5042-5048(1970) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 263-268;HYDROXYLATION AT LYS-265;GLYCOSYLATION AT LYS-265
tissue: Skin.
17.

"Segmental amplification of the entire helical and telopeptide regions of the cDNA for human alpha 1 (I) collagen."
Labhard M.E. , Hollister D.W.
Matrix10:124-130(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE OF 281-302; 402-420; 823-842; 924-944; 1026-1045 AND 1143-1162
18.

"Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution."
Bernard M.P. , Chu M.-L. , Myers J.C. , Ramirez F. , Eikenberry E.F. , Prockop D.J.
Biochemistry22:5213-5223(1983) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 425-1464;VARIANTS ALA-1019 AND ALA-1075
19.

"Cloning and characterization of five overlapping cDNAs specific for the human pro alpha 1(I) collagen chain."
Chu M.-L. , Myers J.C. , Bernard M.P. , Ding J.-F. , Ramirez F.
Nucleic Acids Res.10:5925-5934(1982) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 425-490; 965-1024; 999-1039 AND 1453-1464
20.

"Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA."
Chu M.-L. , Gargiulo V. , Williams C.J. , Ramirez F.
J. Biol. Chem.260:691-694(1985) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 472-607
21.

"Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta."
Barsh G.S. , Roush C.L. , Bonadio J. , Byers P.H. , Gelinas R.E.
Proc. Natl. Acad. Sci. U.S.A.82:2870-2874(1985) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 488-625
22.

"Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent."
Wallis G.A. , Starman B.J. , Zinn A.B. , Byers P.H.
Am. J. Hum. Genet.46:1034-1040(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE OF 710-745;VARIANT OI2 ARG-728
23.

"Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix."
Forlino A. , Zolezzi F. , Valli M. , Pignatti P.F. , Cetta G. , Brunelli P.C. , Mottes M.
Hum. Mol. Genet.3:2201-2206(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 746-781;VARIANT OI3 SER-767
24.

Lubec G. , Chen W.-Q. , Sun Y.
Submitted (2008-12) to the UniProtKB

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 1063-1084;IDENTIFICATION BY MASS SPECTROMETRY;VARIANT ALA-1075
tissue: Fetal brain cortex.
25.

"Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta."
Chessler S.D. , Wallis G.A. , Byers P.H.
J. Biol. Chem.268:18218-18225(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1179-1464;VARIANTS OI2 HIS-1277; ARG-1388 AND 1337-GLU-TYR-1338 DEL;VARIANTS THR-1251 AND SER-1434
26.

"Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta."
Cohn D.H. , Apone S. , Eyre D.R. , Starman B.J. , Andreassen P. , Charbonneau H. , Nicholls A.C. , Pope F.M. , Byers P.H.
J. Biol. Chem.263:14605-14607(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1187-1220;VARIANT CYS-1195
27.

"Human pro alpha 1(I) collagen: cDNA sequence for the C-propeptide domain."
Maekelae J.K. , Raassina M. , Virta A. , Vuorio E.
Nucleic Acids Res.16:349-349(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1229-1454;VARIANT LYS-1391
tissue: Bone.
28.

"Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I."
Willing M.C. , Cohn D.H. , Byers P.H.
J. Clin. Invest.85:282-290(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1440-1464
29.

"Highly conserved sequences in the 3'-untranslated region of the COL1A1 gene bind cell-specific nuclear proteins."
Maatta A. , Bornstein P. , Penttinen R.P.
FEBS Lett.279:9-13(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1454-1464;VARIANT ALA-1075
30.

"Mutations in collagen genes: causes of rare and some common diseases in humans."
Kuivaniemi H. , Tromp G. , Prockop D.J.
FASEB J.5:2052-2060(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
31.

"Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels."
Kuivaniemi H. , Tromp G. , Prockop D.J.
Hum. Mutat.9:300-315(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
32.

"Osteogenesis imperfecta: translation of mutation to phenotype."
Byers P.H. , Wallis G.A. , Willing M.C.
J. Med. Genet.28:433-442(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
33.

"TRAM2 protein interacts with endoplasmic reticulum Ca2+ pump Serca2b and is necessary for collagen type I synthesis."
Stefanovic B. , Stefanovic L. , Schnabl B. , Bataller R. , Brenner D.A.
Mol. Cell. Biol.24:1758-1768(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH TRAM2
34.

"Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele."
Cohn D.H. , Byers P.H. , Steinmann B. , Gelinas R.E.
Proc. Natl. Acad. Sci. U.S.A.83:6045-6047(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 CYS-1166
35.

"Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen."
Bateman J.F. , Chan D. , Walkers I.D. , Rogers J.G. , Cole W.G.
J. Biol. Chem.262:7021-7027(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 ARG-569
36.

"A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta."
Vogel B.E. , Minor R.R. , Freund M. , Prockop D.J.
J. Biol. Chem.262:14737-14744(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 CYS-926
37.

"Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA."
Bateman J.F. , Lamande S.R. , Dahl H.-H.M. , Chan D. , Cole W.G.
J. Biol. Chem.263:11627-11630(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 ARG-842
38.

"A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta."
Labhard M.E. , Wirtz M.K. , Pope F.M. , Nicholls A.C. , Hollister D.W.
Mol. Biol. Med.5:197-207(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI1 CYS-1195
39.

"RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation."
Patterson E. , Smiley E. , Bonadio J.
J. Biol. Chem.264:10083-10087(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 VAL-434
40.

"Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis."
Marini J.C. , Grange D.K. , Gottesman G.S. , Lewis M.B. , Koeplin D.A.
J. Biol. Chem.264:11893-11900(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI4 SER-1010
41.

"Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta."
Lamande S.R. , Dahl H.-H.M. , Cole W.G. , Bateman J.F.
J. Biol. Chem.264:15809-15812(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI2 ALA-1106; VAL-1151; ARG-1154 AND VAL-1184
42.

"Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific."
Pack M. , Constantinou C.D. , Kalia K. , Nielsen K.B. , Prockop D.J.
J. Biol. Chem.264:19694-19699(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI3 SER-1022
43.

"A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen."
Constantinou C.D. , Nielsen K.B. , Prockop D.J.
J. Clin. Invest.83:574-584(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 CYS-1082
44.

"Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype."
Starman B.J. , Eyre D.R. , Charbonneau H. , Harrylock M. , Weis M.A. , Weiss L. , Graham J.M. Jr. , Byers P.H.
J. Clin. Invest.84:1206-1214(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI1 CYS-272;VARIANT OI3 CYS-704;VARIANT OI2 CYS-896
45.

"Two cysteine substitutions in the type I procollagen genes (COL1A1 and COL1A2) that cause lethal osteogenesis imperfecta. The location of glycine substitutions does not in any simple way predict their effects on protein function or phenotype."
Fertala A. , Westerhausen A. , Morris G.M. , Rooney J.E. , Prockop D.J.
Am. J. Hum. Genet.47:A216-A216(1990)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 CYS-422
46.

"Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blocks."
Westerhausen A. , Kishi J. , Prockop D.J.
J. Biol. Chem.265:13995-14000(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI2 SER-776 AND SER-809
47.

"Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion."
Wallis G.A. , Starman B.J. , Schwartz M.F. , Byers P.H.
J. Biol. Chem.265:18628-18633(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 ARG-1025
48.

"Serine for glycine substitutions in the alpha1(I) chain of type I collagen: biological plasticity in the Gly-Pro-Hyp clamp at the carboxyl-terminal end of triple helicalH domain."
Cohn D.H. , Wallis G.A. , Zhang X. , Byers P.H.
Matrix10:236-236(1990)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI2 SER-1091; SER-1181; SER-1187 AND VAL-1187
49.

"A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR."
Zhuang J. , Constantinou C.D. , Ganguly A. , Prockop D.J.
Am. J. Hum. Genet.48:1186-1191(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 ASP-719
50.

"Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution."
Steinmann B. , Westerhausen A. , Constantinou C.D. , Superti-Furga A. , Prockop D.J.
Biochem. J.279:747-752(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 CYS-869
51.

"A type I collagen with substitution of a cysteine for glycine-748 in the alpha 1(I) chain copolymerizes with normal type I collagen and can generate fractallike structures."
Kadler K.E. , Torre-Blanco A. , Adachi E. , Vogel B.E. , Hojima Y. , Prockop D.J.
Biochemistry30:5081-5088(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 CYS-926
52.

"Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen."
Pruchno C.J. , Cohn D.H. , Wallis G.A. , Willing M.C. , Starman B.J. , Zhang X. , Byers P.H.
Hum. Genet.87:33-40(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI3 ARG-332;VARIANT OI2 SER-1181
53.

"A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain."
Valli M. , Mottes M. , Tenni R. , Sangalli A. , Gomez Lira M. , Rossi A. , Antoniazzi F. , Cetta G. , Pignatti P.F.
J. Biol. Chem.266:1872-1878(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI4 CYS-356
54.

"Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix."
Tsuneyoshi T. , Westerhausen A. , Constantinou C.D. , Prockop D.J.
J. Biol. Chem.266:15608-15613(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 VAL-815
55.

"The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen."
Deak S.B. , Scholz P.M. , Amenta P.S. , Constantinou C.D. , Levi-Minzi S.A. , Gonzalez-Lavin L. , MacKenzie J.W.
J. Biol. Chem.266:21827-21832(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI1 ARG-263
56.

"A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta."
Hawkins J.R. , Superti-Furga A. , Steinmann B. , Dalgleish R.
J. Biol. Chem.266:22370-22374(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 1046-GLY--PRO-1048 DEL
57.

"Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta."
Nicholls A.C. , Oliver J.E. , Renouf D.V. , Keston M. , Pope F.M.
J. Med. Genet.28:757-764(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI3 CYS-593;VARIANT OI4 CYS-593
58.

"G to A polymorphism in exon 45 of the COL1A1 gene."
Sokolov B.P. , Constantinou C.D. , Tsuneyoshi T. , Zhuang J. , Prockop D.J.
Nucleic Acids Res.19:4302-4302(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALA-1075
59.

"Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene."
Mottes M. , Sangalli A. , Valli M. , Gomez Lira M. , Tenni R. , Buttitta P. , Pignatti P.F. , Cetta G.
Hum. Genet.89:480-484(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI1 SER-1079
60.

"A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta."
Bonaventure J. , Cohen-Solal L. , Lasselin C. , Maroteaux P.
Hum. Genet.89:640-646(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 VAL-980
61.

"A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase."
Wallis G.A. , Kadler K.E. , Starman B.J. , Byers P.H.
J. Biol. Chem.267:25529-25534(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 1046-GLY--PRO-1048 DEL
62.

"An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen."
Shapiro J.R. , Stover M.L. , Burn V.E. , McKinstry M.B. , Burshell A.L. , Chipman S.D. , Rowe D.W.
J. Clin. Invest.89:567-573(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI1 CYS-221
63.

"The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen."
Cole W.G. , Patterson E. , Bonadio J. , Campbell P.E. , Fortune D.W.
J. Med. Genet.29:112-118(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI2 VAL-434; VAL-1151 AND VAL-1184
64.

"Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta."
Bateman J.F. , Lamande S.R. , Hannagan M. , Moeller I. , Dahl H.-H.M. , Cole W.G.
Am. J. Med. Genet.45:233-240(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 CYS-1312
65.

"Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen."
Marini J.C. , Lewis M.B. , Chen K.J.
Am. J. Med. Genet.45:241-245(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI3 SER-530
66.

"A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta."
Wirtz M.K. , Rao V.H. , Glanville R.W. , Labhard M.E. , Pretorius P.J. , de Vries W.N. , de Wet W. , Hollister D.W.
Connect. Tissue Res.29:1-11(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI4 CYS-353
67.

"Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain."
Valli M. , Sangalli A. , Rossi A. , Mottes M. , Forlino A. , Tenni R. , Pignatti P.F. , Cetta G.
Eur. J. Biochem.211:415-419(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 ALA-1088
68.

"Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion."
Valli M. , Zolezzi F. , Mottes M. , Antoniazzi F. , Stanzial F. , Tenni R. , Pignatti P.F. , Cetta G.
Eur. J. Biochem.217:77-82(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI1 VAL-263
69.

"SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II."
Mackay K. , Lund A.M. , Raghunath M. , Steinmann B. , Dalgleish R.
Hum. Genet.91:439-444(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 VAL-743
70.

"An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta."
Mackay K. , Byers P.H. , Dalgleish R.
Hum. Mol. Genet.2:1155-1160(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI2 SER-425 AND SER-530;VARIANT OI4 SER-560;VARIANT OI3 SER-719;VARIANT ALA-823
71.

"Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta."
Mottes M. , Gomez Lira M. , Valli M. , Scarano G. , Lonardo F. , Forlino A. , Cetta G. , Pignatti P.F.
Hum. Mutat.2:196-204(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 SER-593;VARIANT OI3 SER-593
72.

"Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology."
Marini J.C. , Lewis M.B. , Wang Q. , Chen K.J. , Orrison B.M.
J. Biol. Chem.268:2667-2673(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI4 SER-530
73.

"BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta."
Chessler S.D. , Byers P.H.
J. Biol. Chem.268:18226-18233(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI2
74.

"Osteogenesis imperfecta: comparison of molecular defects with bone histological changes."
Sztrolovics R. , Glorieux F.H. , Travers R. , van der Rest M. , Roughley P.J.
Bone15:321-328(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 ARG-389
75.

"Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III."
Mackay K. , de Paepe A. , Nuytinck L. , Dalgleish R.
Hum. Mutat.3:324-326(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI3 ARG-350
76.

"Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta."
Kurosaka D. , Hattori S. , Hori H. , Yamaguchi N. , Hasegawa T. , Akimoto H. , Nagai Y.
J. Biochem.115:853-857(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 CYS-1124
77.

"Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase."
Lightfoot S.J. , Atkinson M.S. , Murphy G. , Byers P.H. , Kadler K.E.
J. Biol. Chem.269:30352-30357(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI4 SER-1061
78.

"Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation."
Zhuang J. , Tromp G. , Kuivaniemi H. , Castells S. , Prockop D.J.
Am. J. Med. Genet.61:111-116(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI3 ARG-332
79.

"Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes."
Nuytinck L. , Dalgleish R. , Spotila L. , Renard J.-P. , van Regemorter N. , de Paepe A.
Hum. Genet.97:324-329(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 SER-839
80.

"Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding."
Oliver J.E. , Thompson E.M. , Pope F.M. , Nicholls A.C.
Hum. Mutat.7:318-326(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI3 PRO-1464
81.

"Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene."
Grant S.F.A. , Reid D.M. , Blake G. , Herd R. , Fogelman I. , Ralston S.H.
Nat. Genet.14:203-205(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN OSTEOPOROSIS
82.

"Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta."
Lund A.M. , Skovby F. , Schwartz M.
Hum. Mutat.9:378-382(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI3 SER-821; SER-1040; SER-1049; SER-1058 AND SER-1076
83.

"(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?"
Lund A.M. , Skovby F. , Schwartz M.
Hum. Mutat.9:431-436(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 VAL-764
84.

"Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen."
Sarafova A.P. , Choi H. , Forlino A. , Gajko A. , Cabral W.A. , Tosi L. , Reing C.M. , Marini J.C.
Hum. Mutat.11:395-403(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI4 ALA-398; CYS-527 AND CYS-701
85.

"Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes."
Mottes M. , Gomez Lira M. , Zolezzi F. , Valli M. , Lisi V. , Freising P.
Hum. Mutat.12:71-72(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI2 SER-656 AND ASP-1172
86.

"Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women."
Uitterlinden A.G. , Burger H. , Huang Q. , Yue F. , McGuigan F.E.A. , Grant S.F.A. , Hofman A. , van Leeuwen J.P.T.M. , Pols H.A.P. , Ralston S.H.
N. Engl. J. Med.338:1016-1021(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN INVOLUTIONAL OSTEOPOROSIS
87.

"Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III."
Lund A.M. , Astroem E. , Soederhaell S. , Schwartz M. , Skovby F.
Hum. Mutat.13:503-503(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI3 SER-866
88.

"Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen."
Nuytinck L. , Freund M. , Lagae L. , Pierard G.E. , Hermanns-Le T. , De Paepe A.
Am. J. Hum. Genet.66:1398-1402(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS1 CYS-312
89.

"Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma."
Simon M.-P. , Pedeutour F. , Sirvent N. , Grosgeorge J. , Minoletti F. , Coindre J.-M. , Terrier-Lacombe M.-J. , Mandahl N. , Craver R.D. , Blin N. , Sozzi G. , Turc-Carel C. , O'Brien K.P. , Kedra D. , Fransson I. , Guilbaud C. , Dumanski J.P.
Nat. Genet.15:95-98(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: DISEASE;CHROMOSOMAL TRANSLOCATION WITH PDGFB
90.

"Dermatofibrosarcoma protuberans of breast."
Sandberg A.A. , Anderson W.D. , Fredenberg C. , Hashimoto H.
Cancer Genet. Cytogenet.142:56-59(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: DISEASE;CHROMOSOMAL TRANSLOCATION WITH PDGFB
91.

"A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders."
Gensure R.C. , Maekitie O. , Barclay C. , Chan C. , Depalma S.R. , Bastepe M. , Abuzahra H. , Couper R. , Mundlos S. , Sillence D. , Ala-Kokko L. , Seidman J.G. , Cole W.G. , Jueppner H.
J. Clin. Invest.115:1250-1257(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CAFFD CYS-1014
92.

"Osteogenesis imperfecta: clinical, biochemical and molecular findings."
Venturi G. , Tedeschi E. , Mottes M. , Valli M. , Camilot M. , Viglio S. , Antoniazzi F. , Tato L.
Clin. Genet.70:131-139(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI3 VAL-203 AND SER-821;VARIANTS OI4 ARG-257 AND SER-683
93.

"Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta."
Lee K.S. , Song H.R. , Cho T.J. , Kim H.J. , Lee T.M. , Jin H.S. , Park H.Y. , Kang S. , Jung S.C. , Koo S.K.
Hum. Mutat.27:599-599(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI1/OI3/OI4 ARG-194; ASP-242; ARG-257; SER-722; SER-767; SER-821 AND SER-1058
94.

"Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV."
Pollitt R. , McMahon R. , Nunn J. , Bamford R. , Afifi A. , Bishop N. , Dalton A.
Hum. Mutat.27:716-716(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI2 ARG-22; ARG-581; VAL-734 AND ASN-1413;VARIANTS OI4 ARG-197 AND CYS-338;VARIANTS OI1 VAL-320; ARG-555; SER-647 AND GLU-1219;VARIANTS ALA-205; LYS-288; SER-906 AND HIS-1356
95.

"Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene."
Aerts M. , Van Holsbeke C. , de Ravel T. , Devlieger R.
Prenat. Diagn.26:394-394(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI2 ASP-833
96.

"A new mutation in COL1A1 gene in a family with osteogenesis imperfecta."
Wang Z. , Xu D.L. , Chen Z. , Hu J.Y. , Yang Z. , Wang L.T.
Zhonghua Yi Xue Za Zhi86:170-173(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT OI1 ASP-1157
97.

"Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood."
Malfait F. , Symoens S. , De Backer J. , Hermanns-Le T. , Sakalihasan N. , Lapiere C.M. , Coucke P. , De Paepe A.
Hum. Mutat.28:387-395(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS1 CYS-312;VARIANTS CYS-574 AND CYS-1093
98.

"Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype."
Cabral W.A. , Makareeva E. , Letocha A.D. , Scribanu N. , Fertala A. , Steplewski A. , Keene D.R. , Persikov A.V. , Leikin S. , Marini J.C.
Hum. Mutat.28:396-405(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CYS-1066
99.

"Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients."
Kataoka K. , Ogura E. , Hasegawa K. , Inoue M. , Seino Y. , Morishima T. , Tanaka H.
Pediatr. Int.49:564-569(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI1 GLU-266 AND SER-287;VARIANT OI4 SER-353
100.

"Natural variation in four human collagen genes across an ethnically diverse population."
Chan T.F. , Poon A. , Basu A. , Addleman N.R. , Chen J. , Phong A. , Byers P.H. , Klein T.E. , Kwok P.Y.
Genomics91:307-314(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALA-1075; GLN-1141 AND ILE-1177
101.

"Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix."
Witecka J. , Augusciak-Duma A.M. , Kruczek A. , Szydlo A. , Lesiak M. , Krzak M. , Pietrzyk J.J. , Mannikko M. , Sieron A.L.
J. Appl. Genet.49:283-295(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI1 VAL-200 AND PHE-349;VARIANT OI2 SER-866;VARIANT OI3 SER-1040
102.

"Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships."
Bodian D.L. , Chan T.F. , Poon A. , Schwarze U. , Yang K. , Byers P.H. , Kwok P.Y. , Klein T.E.
Hum. Mol. Genet.18:463-471(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OI2 THR-146; VAL-288; ASP-353; VAL-368; THR-390; SER-425; ASP-455; VAL-470; VAL-509; ALA-548; ARG-602; ASP-605; ARG-614; ARG-740; SER-809; ARG-824; ARG-845; ARG-848; HIS-855; SER-866; SER-875; SER-884; ASP-896; CYS-947; ASP-977; CYS-1001; VAL-1022; ALA-PRO-GLY-1052 INS; ASP-1055; SER-1094; ASP-1100 AND ASN-1413;VARIANT ALA-1075
103.

"COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta."
Lindahl K. , Barnes A.M. , Fratzl-Zelman N. , Whyte M.P. , Hefferan T.E. , Makareeva E. , Brusel M. , Yaszemski M.J. , Rubin C.J. , Kindmark A. , Roschger P. , Klaushofer K. , McAlister W.H. , Mumm S. , Leikin S. , Kessler E. , Boskey A.L. , Ljunggren O. , more...
Hum. Mutat.32:598-609(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ASN-1219;CHARACTERIZATION OF VARIANT ASN-1219

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