Regional assignment of the human C1-inhibitor gene to 11q11–q13.1

  title={Regional assignment of the human C1-inhibitor gene to 11q11–q13.1},
  author={A. Theriault and Keith Whaley and A. R. Mcphaden and E. Boyd and J. Michael Connor},
  journal={Human Genetics},
SummaryIn situ hybridisation using a biotinylated 1.8kb human cDNA clone in both normal and structurally abnormal chromosomes supports regional localisation of the gene for human C1-inhibitor to chromosome 11q11-q13.11. 
Paternal mosaicism and hereditary angioedema in a Taiwanese family.
Parental mosaicism is a possible explanation for normal C1 INH plasma concentrations in both parents despite clinically apparent HAE in the children.
Cinryze™ as the first approved C1 inhibitor in the USA for the treatment of hereditary angioedema: approval, efficacy and safety
The human plasma-derived C1 esterase inhibitor (Cinryze™), distributed by Lev Pharmaceuticals, was approved in October 2008 for the prevention of HAE attacks based on the results of a phase III clinical trial, and is described as the first approved chronic replacement treatment for the prophylaxis of H AE attacks.
Cinryze TM as the first approved C 1 inhibitor in the USA for the treatment of hereditary angioedema : approval , efficacy and safety
Correspondence: Michael Lunn Penn State Hershey Medical Center, 500 University Drive, Department of Pulmonary, Allergy, and Immunology Mail Code H041, Hershey, PA 17036 USA Email
Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond
This supplement contains work presented at the third workshop and expanded content toward a definitive picture of angioedema in the absence of allergy, and includes cumulative genetic investigations; multinational laboratory diagnosis recommendations; current pathogenesis hypotheses; and suggested prophylaxis and acute attack treatment.
Ecallantide for the Treatment of Hereditary Angiodema in Adults
Administered subcutaneously, ecallantide was demonstrated in two clinical trials, EDEMA3 and EDEMA4, to decrease the length and severity of acute HAE attacks.
Is there a need for clinical guidelines in the United States for the diagnosis of hereditary angioedema and the screening of family members of affected patients?
  • M. Lunn, C. Santos, T. Craig
  • Medicine
    Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology
  • 2010
Assessing the shortcomings of diagnosing HAE and whether family members of patients with HAE are being adequately screened could potentially alleviate delays in diagnosis and incorrect diagnoses and could lead to adequate screening of family members.
Hereditary angiodema: a current state-of-the-art review, VII: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema.
  • T. Bowen, M. Cicardi, +55 authors Z. Xiang
  • Medicine
    Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology
  • 2008
There is a paucity of double-blind, placebo-controlled trials on the treatment of HAE, making levels of evidence to support the algorithm less than optimal.
The establishment and utility of Sweha-Reg: a Swedish population-based registry to understand hereditary angioedema
awareness of the existence of Sweha-Reg to stimulate the international collaboration of registries and a synthesis of data from similar registries across several countries is required to approach an inclusive course understanding of HAE.
Treatment of Severe Sepsis with C1-Inhibitor
Sepsis has a high mortality rate. Clinical signs and symptoms result from the release and activation of inflammatory mediators. Among these mediators are plasma cascade systems such as the complement
The Story of Angioedema: from Quincke to Bradykinin
The historical progression in angioedema research has been characterized by intermittent “leaps” in interest and scientific achievements, but in the twenty-first century, HAE ceased to be an “orphan disease” and its future is far more optimistic.


High-resolution in situ hybridization technique using biotinylated NMYC oncogene probe reveals periodic structure of HSRs in human neuroblastoma.
A nonisotopic, high-resolution in situ hybridization technique is used to reveal a hitherto unrecognized periodic microstructure within HSRs of a human neuroblastoma cell line.
Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11.
  • A. Davis, A. Whitehead, +4 authors F. Rosen
  • Medicine, Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1986
C1 inhibitor is a heavily glycosylated plasma protein that regulates the activity of the first component of complement (C1) by inactivation of the serine protease subcomponents, C1r and C1s. C1
Chromosomal assignment of a glutamic acid transfer RNA (tRNAGlu) gene to 1p36
In fibroblasts from gorilla (Gorilla gorilla) using biotin labelling, a single site of hybridisation occurred at 1qter which provides further support for homology of 1q in the higher apes and human 1p.
Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization.
Comparison of the amino acid and cDNA sequences indicates that secretion is mediated by a 22-residue signal peptide and that further proteolytic processing does not occur; C1 inhibitor is a member of the large serine protease inhibitor (serpin) gene family.
Yeung-Laiwah AC (1987) Cl-inhibitor deficiency
  • 1987
Human Clinhibitor : primary structure , cDNA cloning and chromosomal localisation
  • Biochemistry
  • 1986
Human inhibitor of the first component , C 1 , characterisation of eDNA clones and localisation of the gene to chromosome 11
  • Proc Natl Acad Sci USA
  • 1986