Hereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domain-Reference-Cited by-同舟云学术

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Hereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domain

Published:2016-03 Issue: Volume:71 Page:123-130
ISSN:0161-5890
Container-title:Molecular Immunology
language:en
Short-container-title:Molecular Immunology

Author:

Jaradat Saied A,Caccia Sonia,Rawashdeh Rifaat,Melhem Motasem,Al-Hawamdeh Ali,Carzaniga Thomas,Haddad Hazem

Funder

Fondazione Cariplo, Milano, Italy

Publisher

Elsevier BV

Subject

Molecular Biology,Immunology

Reference35 articles.

1. C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease;Beinrohr;J. Biol. Chem.,2007

2. Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization;Bock;Biochemistry,1986

3. Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency;Bork;J. Allergy Clin. Immunol.,2012

4. The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant;Bos;J. Biol. Chem.,2003

5. Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency;Bygum;Allergy,2011

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia;Journal of Clinical Immunology;2022-11-08

2. Increased susceptibility to acoustic trauma in a mouse model of non‐syndromic sensorineural deafness, DFNB91;European Journal of Neuroscience;2020-11-07

3. Recombinant human C1 esterase inhibitor (Conestat alfa) for prophylaxis to prevent attacks in adult and adolescent patients with hereditary angioedema;Expert Review of Clinical Immunology;2018-09-02

4. The Diagnosis of Hereditary Angioedema: Family Caregivers’ Experiences;Clinical Nursing Research;2018-06-04

5. Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight;Scientific Reports;2018-01-17

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