SERPING1 ELISA Kit for Human(Homo sapiens) | EIAab.comSERPING1 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > SERPING1(Gene name) > Human

SERPING1 (Gene name),

Plasma protease C1 inhibitor (Protein name ), IC1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

SERPING1(C1IN;C1NH);

Protein name:

Plasma protease C1 inhibitor(C1 Inh;C1Inh);

Alternative:

C1-inhibiting factor;C1 esterase inhibitor;Serpin G1;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Binds to E.coli stcE which allows localization of SERPING1 to cell membranes thus protecting the bacteria against complement-mediated lysis. Interacts with MASP1.

Function:

Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein.

Subcellular Location:

Secreted

Protein Attributes:

Sequence length:

500

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

UniGene:

Hs.384598

SMR:

P05155

MIM:

106100

KEGG:

hsa:710

String:

P05155

Pfam:

PF00079

Uniprot:

P05155

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ELISA Kit for Human C1 Inh

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E0235m

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96T

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ELISA Kit for Human C1 Inh

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E0235r

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96T

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ELISA Kit for Human C1 Inh

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E0235h

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ELISA Kit for Human C1 Inh

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CLIA Kit for Human C1 Inh

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U0235h

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96T

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CLIA Kit for Human C1 Inh

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CLIA Kit for Human C1 Inh

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U0235m

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96T

CLIA Kit for Human C1 Inh

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U0235r

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Polyclonal Antibody for Human C1 Inh

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P0235Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human C1 Inh

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P0235Rb-r

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Polyclonal Antibody for Human C1 Inh

Cat.:

P0235Rb-m

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40ug/0.2ml

Monoclonal Antibody for Human C1 Inh

Protein for Human C1 Inh

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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References

1.

"Isolation and analysis of a cDNA coding for human C1 inhibitor."
Que B.G. , Petra P.H.
Biochem. Biophys. Res. Commun.137:620-625(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] (ISOFORM 1)
2.

"Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization."
Bock S.C. , Skriver K. , Nielsen E. , Thoegersen H.-C. , Wiman B. , Donaldson V.H. , Eddy R.L. , Marrinan J. , Radziejewska E. , Huber R. , Shows T.B. , Magnusson S.
Biochemistry25:4292-4301(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] (ISOFORM 1);PARTIAL PROTEIN SEQUENCE;GLYCOSYLATION AT ASN-25; THR-48; SER-64; ASN-69; THR-71; ASN-81; THR-83; THR-88; THR-92; THR-96; ASN-238; ASN-253 AND ASN-352
3.

"Genomic and cDNA cloning of the human C1 inhibitor. Intron-exon junctions and comparison with other serpins."
Carter P.E. , Dunbar B. , Fothergill J.E.
Eur. J. Biochem.173:163-169(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 / MRNA] (ISOFORM 1)
4.

"Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements."
Carter P.E. , Duponchel C. , Tosi M. , Fothergill J.E.
Eur. J. Biochem.197:301-308(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]
5.

"Production of recombinant human C1 inhibitor in milk of transgenic rabbits for potential use in enzyme replacement therapy for hereditary angioedema."
Heus J. , Platenburg-Kootwijk E. , Meershoek E. , De Winter R. , Knijnenburg J. , Kupers L. , Habex H. , Renaers I. , Samuel C. , Bonnarens L. , Hoffman S. , Brouwer M. , Hack E. , Horbach D. , Timmermans M. , Nuijens J. , Pieper F.
Submitted (2001-10) 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]
tissue: Foreskin.
6.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(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] (ISOFORMS 1; 2 AND 3)
tissue: Heart.
tissue: Liver.
tissue: Ovary.
tissue: Uterus.
7.

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2003-05) 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: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1);VARIANT MET-480
8.

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] (ISOFORM 1);VARIANT MET-480
tissue: Brain.
9.

SeattleSNPs variation discovery resource
Submitted (2005-01) 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 MET-480
10.

"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D. , Noguchi H. , Totoki Y. , Toyoda A. , Kuroki Y. , Dewar K. , Lloyd C. , Itoh T. , Takeda T. , Kim D.-W. , She X. , Barlow K.F. , Bloom T. , Bruford E. , Chang J.L. , Cuomo C.A. , Eichler E. , FitzGerald M.G. , more...
Nature440:497-500(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
11.

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 (2005-07) 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 [LARGE SCALE GENOMIC DNA]
12.

"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 1);VARIANT MET-480
tissue: Brain.
13.

"Molecular cloning of the cDNA coding for human C1 inhibitor."
Rauth G. , Schumacher G. , Buckel P. , Mueller-Esterl W.
Protein Seq. Data Anal.1:251-257(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 6-500 (ISOFORM 1)
14.

"The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant."
Bos I.G.A. , Lubbers Y.T.P. , Roem D. , Abrahams J.P. , Hack C.E. , Eldering E.
J. Biol. Chem.278:29463-29470(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 18-188;VARIANT HAE 84-ASP--THR-138 DEL
tissue: Blood.
15.

"Human C1 inhibitor: improved isolation and preliminary structural characterization."
Harrison R.A.
Biochemistry22:5001-5007(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: PROTEIN SEQUENCE OF 23-62
16.

"Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements."
Stoppa-Lyonnet D. , Carter P.E. , Meo T. , Tosi M.
Proc. Natl. Acad. Sci. U.S.A.87:1551-1555(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] OF 33-228
17.

"Molecular cloning of human C1 inhibitor: sequence homologies with alpha 1-antitrypsin and other members of the serpins superfamily."
Tosi M. , Duponchel C. , Bourgarel P. , Colomb M. , Meo T.
Gene42:265-272(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 213-500 (ISOFORM 1/2/3)
18.

"Molecular weights and isoelectric points of sperm antigens relevant to autoimmune infertility in men."
Pillai S. , Wright D. , Gupta A. , Zhou G. , Hull G. , Jiang H. , Zhang H.
J. Urol.155:1928-1933(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: PROTEIN SEQUENCE OF 217-233
19.

"Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11."
Davis A.E. III , Whitehead A.S. , Harrison R.A. , Dauphinias A. , Bruns G.A. , Cicardi M. , Rosen F.S.
Proc. Natl. Acad. Sci. U.S.A.83:3161-3165(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 241-458 (ISOFORM 1/2/3);PARTIAL PROTEIN SEQUENCE
20.

"Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function."
Verpy E. , Couture-Tosi E. , Eldering E. , Lopez-Trascasa M. , Spath P. , Meo T. , Tosi M.
J. Clin. Invest.95:350-359(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 [GENOMIC DNA] OF 418-500;VARIANTS HAE MET-473; ARG-481; PRO-481; ARG-489 AND SER-498
21.

"Chymotrypsin inhibitory activity of normal C1-inhibitor and a P1 Arg to His mutant: evidence for the presence of overlapping reactive centers."
Aulak K.S. , Davis A.E. III , Donaldson V.H. , Harrison R.A.
Protein Sci.2:727-732(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: PROTEIN SEQUENCE OF 464-481;FUNCTION;REACTIVE SITE FOR CHYMOTRYPSIN
tissue: Plasma.
22.

"Proteolytic activities of two types of mannose-binding lectin-associated serine protease."
Matsushita M. , Thiel S. , Jensenius J.C. , Terai I. , Fujita T.
J. Immunol.165:2637-2642(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: INTERACTION WITH MASP1
23.

"StcE, a metalloprotease secreted by Escherichia coli O157:H7, specifically cleaves C1 esterase inhibitor."
Lathem W.W. , Grys T.E. , Witowski S.E. , Torres A.G. , Kaper J.B. , Tarr P.I. , Welch R.A.
Mol. Microbiol.45:277-288(2002) [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 E.COLI STCE;PROTEOLYTIC PROCESSING BY E.COLI STCE
24.

"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
Zhang H. , Li X.-J. , Martin D.B. , Aebersold R.
Nat. Biotechnol.21:660-666(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: GLYCOSYLATION AT ASN-253
25.

"Potentiation of C1 esterase inhibitor by StcE, a metalloprotease secreted by Escherichia coli O157:H7."
Lathem W.W. , Bergsbaken T. , Welch R.A.
J. Exp. Med.199:1077-1087(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 E.COLI STCE;PROTEOLYTIC PROCESSING BY E.COLI STCE
26.

"Screening for N-glycosylated proteins by liquid chromatography mass spectrometry."
Bunkenborg J. , Pilch B.J. , Podtelejnikov A.V. , Wisniewski J.R.
Proteomics4:454-465(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-25; ASN-238; ASN-253 AND ASN-352
tissue: Plasma.
27.

"N-linked glycosylation at Asn3 and the positively charged residues within the amino-terminal domain of the c1 inhibitor are required for interaction of the C1 Inhibitor with Salmonella enterica serovar typhimurium lipopolysaccharide and lipid A."
Liu D. , Cramer C.C. , Scafidi J. , Davis A.E. III
Infect. Immun.73:4478-4487(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: GLYCOSYLATION AT ASN-25
28.

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T. , Qian W.-J. , Gritsenko M.A. , Camp D.G. II , Monroe M.E. , Moore R.J. , Smith R.D.
J. Proteome Res.4:2070-2080(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-25; ASN-69; ASN-238; ASN-253 AND ASN-352
tissue: Plasma.
29.

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
J. Proteome Res.8:651-661(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-69; ASN-81; ASN-238; ASN-253 AND ASN-352
tissue: Liver.
30.

"A strategy for precise and large scale identification of core fucosylated glycoproteins."
Jia W. , Lu Z. , Fu Y. , Wang H.P. , Wang L.H. , Chi H. , Yuan Z.F. , Zheng Z.B. , Song L.N. , Han H.H. , Liang Y.M. , Wang J.L. , Cai Y. , Zhang Y.K. , Deng Y.L. , Ying W.T. , He S.M. , Qian X.H.
Mol. Cell. Proteomics8:913-923(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: GLYCOSYLATION AT ASN-238; ASN-253 AND ASN-352
31.

"Enrichment of glycopeptides for glycan structure and attachment site identification."
Nilsson J. , Rueetschi U. , Halim A. , Hesse C. , Carlsohn E. , Brinkmalm G. , Larson G.
Nat. Methods6:809-811(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-352;STRUCTURE OF CARBOHYDRATES
tissue: Cerebrospinal fluid.
32.

"Human urinary glycoproteomics; attachment site specific analysis of N-and O-linked glycosylations by CID and ECD."
Halim A. , Nilsson J. , Ruetschi U. , Hesse C. , Larson G.
Mol. Cell. Proteomics0:0-0(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: GLYCOSYLATION AT ASN-25; THR-47 AND THR-48;STRUCTURE OF CARBOHYDRATES;IDENTIFICATION BY MASS SPECTROMETRY
33.

"LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins."
Halim A. , Ruetschi U. , Larson G. , Nilsson J.
J. Proteome Res.12:573-584(2013) [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: GLYCOSYLATION AT THR-47 AND THR-48;IDENTIFICATION BY MASS SPECTROMETRY
34.

"C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease."
Beinrohr L. , Harmat V. , Dobo J. , Loerincz Z. , Gal P. , Zavodszky P.
J. Biol. Chem.282:21100-21109(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: X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 119-500;DISULFIDE BONDS;GLYCOSYLATION AT ASN-238
35.

"What do dysfunctional serpins tell us about molecular mobility and disease?"
Stein P.E. , Carrell R.W.
Nat. Struct. Biol.2:96-113(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: REVIEW ON VARIANTS
36.

"Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444-->His) mutation."
Aulak K.S. , Pemberton P.A. , Rosen F.S. , Carrell R.W. , Lachmann P.J. , Harrison R.A.
Biochem. J.253:615-618(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 HAE HIS-466
37.

"Identification of a new P1 residue mutation (444Arg-->Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma."
Aulak K.S. , Cicardi M. , Harrison R.A.
FEBS Lett.266:13-16(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 HAE SER-466
38.

"Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene."
Levy N.J. , Ramesh N. , Cicardi M. , Harrison R.A. , Davis A.E. III
Proc. Natl. Acad. Sci. U.S.A.87:265-268(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 HAE THR-458
39.

"Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site."
Parad R.B. , Kramer J. , Strunk R.C. , Rosen F.S. , Davis A.E. III
Proc. Natl. Acad. Sci. U.S.A.87:6786-6790(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 HAE LYS-273 DEL
40.

"Identification of type II hereditary angio-oedema (HAE) mutations."
Siddique Z.M. , McPhaden A.R. , Whaley K.
Clin. Exp. Immunol.86:11-12(1991)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HAE GLU-456 AND VAL-458
41.

"A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu)."
Frange D. , Aulak K.S. , Cicardi M. , Harrison R.A. , Davis A.E. III
FEBS Lett.301:34-36(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 HAE LEU-466
42.

"C1 inhibitor hinge region mutations produce dysfunction by different mechanisms."
Davis A.E. III , Aulak K. , Parad R.B. , Stecklein H.P. , Eldering E. , Hack C.E. , Kramer J. , Strunk R.C. , Bissler J. , Rosen F.S.
Nat. Genet.1:354-358(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 HAE GLU-454 AND THR-458
43.

"Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema."
Davis A.E. III , Bissler J.J. , Cicardi M.
Behring Inst. Mitt.93:313-320(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 HAE ARG-429
44.

"Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein."
Zahedi R. , Bissler J.J. , Davis A.E. III , Andreadis C. , Wisnieski J.J.
J. Clin. Invest.95:1299-1305(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 HAE VAL-465
45.

"A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema."
Ocejo-Vinyals J.G. , Leyva-Cobian F. , Fernandez-Luna J.L.
Mol. Med.1:700-705(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 HAE PRO-467
46.

"Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema."
Verpy E. , Biasotto M. , Brai M. , Misiano G. , Meo T. , Tosi M.
Am. J. Hum. Genet.59:308-319(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 HAE
47.

"Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema."
Kalmar L. , Bors A. , Farkas H. , Vas S. , Fandl B. , Varga L. , Fuest G. , Tordai A.
Hum. Mutat.22:498-498(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: VARIANTS HAE TYR-130; PRO-394; VAL-408; CYS-466; GLU-473; GLU-493 AND ARG-498
48.

"Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations."
Kang H.-R. , Yim E.-Y. , Oh S.-Y. , Chang Y.-S. , Kim Y.-K. , Cho S.-H. , Min K.-U. , Kim Y.-Y.
Allergy61:260-264(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 HAE ARG-345;VARIANTS ALA-56 AND MET-480
49.

"Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema."
Xu Y.Y. , Zhi Y.X. , Yin J. , Wang L.L. , Wen L.P. , Gu J.Q. , Guan K. , Craig T. , Zhang H.Y.
Allergy67:1430-1436(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: VARIANTS HAE ALA-118; CYS-154; PHE-170; ARG-184; PRO-230; LYS-232; ASN-272 DEL; ARG-299; GLN-430; THR-441; PRO-447; SER-466; CYS-466; LEU-466; GLY-473 AND GLY-497;VARIANTS ALA-56 AND MET-480
50.

"Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations."
Bafunno V. , Bova M. , Loffredo S. , Divella C. , Petraroli A. , Marone G. , Montinaro V. , Margaglione M. , Triggiani M.
Ann. Hum. Genet.78:73-82(2014) [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 HAE ARG-11; ARG-265; VAL-274; THR-458; CYS-466; HIS-466; ARG-493 AND GLU-493

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