COL3A1 ELISA Kit for Human(Homo sapiens) | EIAab.comCOL3A1 ELISA Kit for Human(Homo sapiens)

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COL3A1 (Gene name),

Collagen alpha-1(III) chain (Protein name ), CO3A1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

Citations (1)

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Gene name:

COL3A1;

Protein name:

Collagen alpha-1(III) chain;

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines.

Function:

Collagen type III occurs in most soft connective tissues along with type I collagen.

Subcellular Location:

Secreted extracellular space extracellular matrix

Protein Attributes:

Sequence length:

1466

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:

1466:

GPDQEFGVDV | GPVCFL

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

KEGG:

hsa:1281

UniGene:

Hs.443625

SMR:

P02461

Pfam:

PF01410

MIM:

100070

String:

P02461

Uniprot:

P02461

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

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E0176c

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

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E0176r

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96T

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

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E0176m

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

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E0176h

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

Cat.:

E0176b

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96T

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

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U0176b

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96T

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

Cat.:

U0176h

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96T

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

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U0176m

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Packing:

96T

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

Cat.:

U0176c

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96T

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

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U0176r

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96T

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

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P0176Rb-h

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40ug/0.2ml

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

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P0176Rb-m

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

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P0176Rb-r

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

Protein for Human Collagen alpha-1(III) chain

R&D Technical Data

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Precision

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Recovery

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Linearity

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Citations

[1].

"Triptolide inhibits extracellular matrix protein synthesis by suppressing the Smad2 but not the MAPK pathway in TGF-β1-stimulated NRK-49F cells"

Bin Zhu, Yong-jun Wang, Cai-feng Zhu, Yi Lin, Xiao-ling Zhu, Sheng Wei, Ying Lu and Xiao-xia Cheng

From:Nephrol Dial Transplant

References

1.

"Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences."
Ala-Kokko L. , Kontusaari S. , Baldwin C.T. , Kuivaniemi H. , Prockop D.J.
Biochem. J.260:509-516(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 [MRNA] (ISOFORM 1);VARIANT GLN-1353
tissue: Skin fibroblast.
2.

"Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes."
Valkkila M. , Melkoniemi M. , Kvist L. , Kuivaniemi H. , Tromp G. , Ala-Kokko L.
Matrix Biol.20:357-366(2001) [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] (ISOFORM 1);VARIANT GLN-1353
3.

Fang H.
Submitted (2013-01) 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 [GENOMIC DNA];VARIANT ARG-726
4.

NHLBI resequencing and genotyping service (RS&G)
Submitted (2009-09) 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 [GENOMIC DNA]
5.

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W. , Graves T.A. , Fulton R.S. , Fulton L.A. , Pepin K.H. , Minx P. , Wagner-McPherson C. , Layman D. , Wylie K. , Sekhon M. , Becker M.C. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , Nash W.E. , Kremitzki C. , Oddy L. , Du H. , more...
Nature434:724-731(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) 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 GENOMIC DNA];VARIANT GLN-1353
7.

"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] (ISOFORM 2);VARIANT GLN-1353
tissue: Liver.
8.

"Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1)."
Benson-Chanda V. , Su M.W. , Weil D. , Chu M.-L. , Ramirez F.
Gene78:255-265(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 [GENOMIC DNA] OF 1-176
9.

"Nucleotide sequence of a cDNA coding for the amino-terminal region of human prepro alpha 1(III) collagen."
Toman D. , Ricca G. , de Crombrugghe B.
Nucleic Acids Res.16:7201-7201(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 1-170 (ISOFORMS 1/2)
tissue: Placenta.
10.

"Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen."
Janeczko R.A. , Ramirez F.
Nucleic Acids Res.17:6742-6742(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 [MRNA] OF 149-1225 (ISOFORM 1)
11.

"Covalent structure of collagen: amino acid sequence of cyanogen bromide peptides from the amino-terminal segment of type III collagen of human liver."
Seyer J.M. , Kang A.H.
Biochemistry16:1158-1164(1977) [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 168-398;HYDROXYLATION
12.

Seyer J.M.
Submitted (1977-12) to the PIR data bank

[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
13.

"Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring."
Milewicz D.M. , Witz A.M. , Smith A.C. , Manchester D.K. , Waldstein G. , Byers P.H.
Am. J. Hum. Genet.53:62-70(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 [GENOMIC DNA] OF 186-194 (ISOFORMS 1/2)
14.

"Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix."
Chiodo A.A. , Sillence D.O. , Cole W.G. , Bateman J.F.
Biochem. J.311:939-943(1995) [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 302-423 (ISOFORMS 1/2)
15.

"Onco-fetal/laminin-binding collagen from colon carcinoma: detection of new sequences."
Minafra I.P. , Andriolo M. , Basirico L. , Aquino A. , Minafra S. , Boutillon M.-M. , van der Rest M.
Biochem. Biophys. Res. Commun.207:852-859(1995) [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 395-416; 579-595; 800-814 AND 1064-1079
tissue: Colon carcinoma.
16.

"Covalent structure of collagen: amino acid sequence of five consecutive CNBr peptides from type III collagen of human liver."
Seyer J.M. , Kang A.H.
Biochemistry17:3404-3411(1978) [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 399-727
17.

"G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV."
Lee B. , Vitale E. , Superti-Furga A. , Steinmann B. , Ramirez F.
J. Biol. Chem.266:5256-5259(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 537-605
18.

"Covalent structure of collagen: amino acid sequence of alpha 1 (III)-CB5 from type III collagen of human liver."
Seyer J.M. , Mainardi C. , Kang A.H.
Biochemistry19:1583-1589(1980) [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 728-964
19.

"A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV."
Cole W.G. , Chiodo A.A. , Lamande S.R. , Janeczko R. , Ramirez F. , Dahl H.-H.M. , Chan D. , Bateman J.F.
J. Biol. Chem.265:17070-17077(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 [GENOMIC DNA / MRNA] OF 861-1015 (ISOFORM 1)
20.

"Human pro alpha 1(III) collagen: cDNA sequence for the 3' end."
Mankoo B.S. , Dalgleish R.
Nucleic Acids Res.16:2337-2337(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 950-1466 (ISOFORM 1);VARIANT GLN-1353
21.

"Human type III collagen 'variant' is a cDNA cloning artefact."
Molyneux K. , Dalgleish R.
Nucleic Acids Res.16:11833-11833(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: SEQUENCE REVISION TO 1184
22.

"Covalent structure of collagen: amino acid sequence of alpha 1(III)-CB9 from type III collagen of human liver."
Seyer J.M. , Kang A.H.
Biochemistry20:2621-2627(1981) [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 965-1200;HYDROXYLATION
23.

"Molecular cloning and carboxyl-propeptide analysis of human type III procollagen."
Loidl H.R. , Brinker J.M. , May M. , Pihlajaniemi T. , Morrow S. , Rosenbloom J. , Myers J.C.
Nucleic Acids Res.12:9383-9394(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 [MRNA] OF 1065-1466 (ISOFORM 1)
24.

"Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth."
Miskulin M. , Dalgleish R. , Kluve-Beckerman B. , Rennard S.I. , Tolstoshev P. , Brantly M. , Crystal R.G.
Biochemistry25:1408-1413(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: NUCLEOTIDE SEQUENCE [MRNA] OF 1161-1200 (ISOFORMS 1/2)
25.

"Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2."
Emanuel B.S. , Cannizzaro L.A. , Seyer J.M. , Myers J.C.
Proc. Natl. Acad. Sci. U.S.A.82:3385-3389(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 [MRNA] OF 1165-1196 (ISOFORMS 1/2)
26.

"Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene."
Chu M.-L. , Weil D. , de Wet W.J. , Bernard M.P. , Sippola M. , Ramirez F.
J. Biol. Chem.260:4357-4363(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 [MRNA] OF 1122-1466 (ISOFORMS 1/2);VARIANT GLN-1353
27.

"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
28.

"Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries."
Boudko S.P. , Engel J. , Okuyama K. , Mizuno K. , Bachinger H.P. , Schumacher M.A.
J. Biol. Chem.283:32580-32589(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: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 1158-1199;INTERCHAIN DISULFIDE BONDS
29.

"Structural basis of fibrillar collagen trimerization and related genetic disorders."
Bourhis J.M. , Mariano N. , Zhao Y. , Harlos K. , Exposito J.Y. , Jones E.Y. , Moali C. , Aghajari N. , Hulmes D.J.
Nat. Struct. Mol. Biol.19:1031-1036(2012) [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: X-RAY CRYSTALLOGRAPHY (1.68 ANGSTROMS) OF 1222-1466;PROPEPTIDE;DISULFIDE BONDS;CALCIUM-BINDING SITES
30.

"Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms."
Tromp G. , Wu Y. , Prockop D.J. , Madhatheri S.L. , Kleinert C. , Earley J.J. , Zhuang J. , Noerrgaard O. , Darling R.C. , Abbott W.M. , Cole C.W. , Jaakkola P. , Ryynaenen M. , Pearce W.H. , Yao J.S.T. , Majamaa K. , Smullens S.N. , Gatalica Z. , more...
J. Clin. Invest.91:2539-2545(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 AAA ARG-303;VARIANT THR-668
31.

"G to A polymorphism in exon 31 of the COL3A1 gene."
Zafarullah K. , Kleinert C. , Tromp G. , Kuivaniemi H. , Kontusaari S. , Wu Y. , Ganguly A. , Prockop D.J.
Nucleic Acids Res.18:6180-6180(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 THR-698
32.

"A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms."
Kontusaari S. , Tromp G. , Kuivaniemi H. , Romanic A.M. , Prockop D.J.
J. Clin. Invest.86:1465-1473(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 AAA ARG-786
33.

"A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV."
Richards A.J. , Lloyd J.C. , Narcisi P. , Ward P.N. , Nicholls A.C. , De Paepe A. , Pope F.M.
Hum. Genet.88:325-330(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 EDS4 830-PRO--PRO-838 DEL
34.

"The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV."
Richards A.J. , Narcisi P. , Lloyd J.C. , Ferguson C. , Pope F.M.
J. Med. Genet.30:690-693(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 EDS4 ARG-828
35.

"A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV."
Tromp G. , Kuivaniemi H. , Shikata H. , Prockop D.J.
J. Biol. Chem.264:1349-1352(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 EDS4 SER-957
36.

"Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV."
Tromp G. , de Paepe A. , Nuytinck L. , Madhatheri S.L. , Kuivaniemi H.
Hum. Mutat.5:179-181(1995) [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 EDS4 VAL-960
37.

"A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation."
Richards A.J. , Ward P.N. , Narcisi P. , Nicholls A.C. , Lloyd J.C. , Pope F.M.
Hum. Genet.89:414-418(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 EDS4 GLU-1014
38.

"Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV."
Tromp G. , Kuivaniemi H. , Stolle C.A. , Pope F.M. , Prockop D.J.
J. Biol. Chem.264:19313-19317(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 EDS4 ASP-1050
39.

"Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV."
Kontusaari S. , Tromp G. , Kuivaniemi H. , Ladda R.L. , Prockop D.J.
Am. J. Hum. Genet.47:112-120(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 AAA ARG-786
40.

"Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV."
Richards A.J. , Lloyd J.C. , Ward P.N. , de Paepe A. , Narcisi P. , Pope F.M.
J. Med. Genet.28:458-463(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 EDS4 VAL-1077
41.

"A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis."
Johnson P.H. , Richards A.J. , Pope F.M. , Hopkinson D.A.
J. Inherit. Metab. Dis.15:426-430(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 EDS4 GLU-1173
42.

"Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother."
Kontusaari S. , Tromp G. , Kuivaniemi H. , Stolle C.A. , Pope F.M. , Prockop D.J.
Am. J. Hum. Genet.51:497-507(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 EDS4 ASP-1185
43.

"Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV."
Narcisi P. , Wu Y. , Tromp G. , Earley J.J. , Richards A.J. , Pope F.M. , Kuivaniemi H.
Am. J. Med. Genet.46:278-283(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 EDS4 GLU-1188
44.

"Substitution of glycines 1000, 1003 and 1006 in type III collagen all cause the acrogeric form of EDS-IV, and destabilise the collagen triple helix."
Richards A.J. , Narcisi P. , Lloyd J.C. , Johnson P.H. , Hopkinson D.A. , Pope F.M.
Matrix13:47-47(1993)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EDS4 VAL-1167; ASP-1170 AND GLU-1173
45.

"Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients."
Kuivaniemi H. , Prockop D.J. , Wu Y. , Madhatheri S.L. , Kleinert C. , Earley J.J. , Jokinen A. , Stolle C.A. , Majamaa K. , Mylllylae V.V. , Noerrgaard O. , Schievink W.I. , Mokri B. , Fukawa O. , Ter Berg J.W.M. , de Paepe A. , Lozano A.M. , Leblanc R. , more...
Neurology43:2652-2658(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 THR-602 AND LEU-635
46.

"Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV."
Madhatheri S.L. , Tromp G. , Gustavson K.H. , Kuivaniemi H.
Hum. Mol. Genet.3:511-512(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 EDS4 GLU-756
47.

"A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637-to-serine substitution in type III collagen."
Narcisi P. , Richards A.J. , Ferguson S.D. , Pope F.M.
Hum. Mol. Genet.3:1617-1620(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 EDS3 SER-804
48.

"Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV."
Nuytinck L. , De Paepe A. , Renard J.P. , Adriaens F. , Leroy J.
Hum. Mutat.3:268-274(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 EDS4 VAL-1176
49.

"Marked heterogeneity in COL3A1 mutations that produce the EDS type IV phenotype."
Goldstein J.A. , Schwarze U. , Witz A. , Byers P.H.
Matrix Biol.14:392-393(1994)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EDS4 CYS-183; ARG-201; GLU-228; ARG-540; ARG-936; GLU-996; VAL-1071; ALA-1104; GLU-1182; VAL-1185; GLU-1188 AND ARG-1188
50.

"Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV."
Johnson P.H. , Richards A.J. , Lloyd J.C. , Pope F.M. , Hopkinson D.A.
Hum. Mutat.6:336-342(1995) [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 EDS4 ASP-909 AND ASP-939
51.

"Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation."
Mackay K. , Raghunath M. , Superti-Furga A. , Steinmann B. , Dalgleish R.
Clin. Genet.49:286-295(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: VARIANTS EDS4 GLU-567; CYS-762 AND ASP-1170
52.

"Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen."
McGrory J. , Weksberg R. , Thorner P. , Cole W.G.
Clin. Genet.50:442-445(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 EDS4 GLU-1101
53.

"A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV."
McGrory J. , Costa T. , Cole W.G.
Hum. Mutat.7:59-60(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 EDS4 ASP-666
54.

"A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV."
Anderson D.W. , Thakker-Varia S. , Tromp G. , Kuivaniemi H. , Stolle C.A.
Hum. Mutat.9:62-63(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 EDS4 SER-582
55.

"Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis."
Smith L.T. , Schwarze U. , Goldstein J. , Byers P.H.
J. Invest. Dermatol.108:241-247(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 EDS4 CYS-183; ARG-201; GLU-228; ARG-540 AND ARG-936
56.

"A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV."
Bateman J.F. , Chiodo A.A. , Weng Y.M. , Chan D. , Haan E.
Hum. Mutat. Suppl.1:S257-S259(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: VARIANT EDS4 ARG-726
57.

"COL3A1 mutation leading to acrogeria (Gottron Type)."
Jansen T. , de Paepe A. , Luytinck N. , Plewig G.
Br. J. Dermatol.142:178-180(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 EDS-IV ARG-1173
58.

"Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays."
Giunta C. , Steinmann B.
Hum. Mutat.16:176-177(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: VARIANTS EDS4 ASP-204; ASP-210; ARG-264; ASP-327; ASP-1098 AND GLU-1173
59.

"Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type."
Pepin M. , Schwarze U. , Superti-Furga A. , Byers P.H.
N. Engl. J. Med.342:673-680(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: VARIANTS EDS4
60.

"Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis."
Nishiyama Y. , Nejima J. , Watanabe A. , Kotani E. , Sakai N. , Hatamochi A. , Shinkai H. , Kiuchi K. , Tamura K. , Shimada T. , Takano T. , Katayama Y.
J. Intern. Med.249:103-108(2001) [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 EDS4 ASP-1044
61.

"Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile."
Kroes H.Y. , Pals G. , van Essen A.J.
Clin. Genet.63:224-227(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: VARIANT EDS4 ARG-297
62.

Kroes H.Y. , Pals G. , van Essen A.J.
Clin. Genet.64:375-375(2003)

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

"Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism."
Palmeri S. , Mari F. , Meloni I. , Malandrini A. , Ariani F. , Villanova M. , Pompilio A. , Schwarze U. , Byers P.H. , Renieri A.
Clin. Genet.63:510-515(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: VARIANT EDS4 VAL-1050
64.

"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T. , Jones S. , Wood L.D. , Parsons D.W. , Lin J. , Barber T.D. , Mandelker D. , Leary R.J. , Ptak J. , Silliman N. , Szabo S. , Buckhaults P. , Farrell C. , Meeh P. , Markowitz S.D. , Willis J. , Dawson D. , Willson J.K.V. , more...
Science314:268-274(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 [LARGE SCALE ANALYSIS] SER-420 AND CYS-1434
65.

"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 THR-679; THR-698; VAL-1205 AND GLN-1353

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