Molecular genetics of C1 inhibitor

scientific article published on 01 August 1998

Molecular genetics of C1 inhibitor is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

External links are
P356DOI10.1016/S0171-2985(98)80040-5
P698PubMed publication ID9777419

P2093author name stringTosi M
P2860cites workClusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangementsQ24558897
The sequence of a cDNA encoding functional murine C1-inhibitor proteinQ28513281
Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edemaQ33894493
What do dysfunctional serpins tell us about molecular mobility and disease?Q34058884
Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elementsQ34104715
Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or functionQ34195958
Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor geneQ34327815
Efficient detection of point mutations on color-coded strands of target DNA.Q35079578
A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.Q35801782
C1-inhibitor and its genetic alterations in hereditary angioneurotic edemaQ40829855
COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerizationQ41370342
Altered C1 inhibitor genes in type I hereditary angioedemaQ69033492
Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edemaQ72286532
P433issue2
P921main subjectmolecular geneticsQ210506
P304page(s)358-365
P577publication date1998-08-01
P1433published inImmunobiologyQ15754985
P1476titleMolecular genetics of C1 inhibitor
P478volume199

Reverse relations

cites work (P2860)
Q43965627A novel type III polyketide synthase encoded by a three-intron gene from Polygonum cuspidatum
Q36470474Acquired form of angioedema of the head and neck related to a deficiency in c1-inhibitor: a case report with a review of the literature
Q35381816Amniotic fluid embolism pathophysiology suggests the new diagnostic armamentarium: β-tryptase and complement fractions C3-C4 are the indispensable working tools
Q34005008An evaluation of tests used for the diagnosis and monitoring of C1 inhibitor deficiency: normal serum C4 does not exclude hereditary angio-oedema
Q59215908Angioedema
Q24684165C1 inhibitor deficiency: consensus document
Q36839961C1-inhibitor deficiencies (hereditary angioedema): where are we with therapies?
Q34228505Characterization of the third SERK gene in pineapple (Ananas comosus) and analysis of its expression and autophosphorylation activity in vitro
Q37394385Clinical Immunology Review Series: An approach to the patient with angio-oedema
Q34580029Current management of hereditary angio-oedema (C'1 esterase inhibitor deficiency).
Q31015716DX-88 and HAE: a developmental perspective
Q52603320First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual.
Q40463262HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene.
Q28972400Hereditary Angioedema Caused By C1-Esterase Inhibitor Deficiency: A Literature-Based Analysis and Clinical Commentary on Prophylaxis Treatment Strategies
Q37383209Hereditary Angioedema with Recurrent Abdominal Pain in a Patient with a Novel Mutation
Q40484335Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond
Q33986895Hereditary angioedema due to C1 inhibitor deficiency: patient registry and approach to the prevalence in Spain
Q33915553Hereditary angioedema with normal C1-inhibitor activity in women
Q54657692Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.
Q37531616Human Plasma-Derived, Nanofiltered, C1-Inhibitor Concentrate (Cinryze®), a Novel Therapeutic Alternative for the Management of Hereditary Angioedema Resulting from C1-Inhibitor Deficiency
Q24816630Hypoxia-activated genes from early placenta are elevated in preeclampsia, but not in Intra-Uterine Growth Retardation
Q24671677Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III
Q47316465Kallikrein Cleaves C3 and Activates Complement.
Q38025607Long-term prophylaxis in hereditary angio-oedema: a systematic review.
Q48241809Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
Q81450889Paternal mosaicism and hereditary angioedema in a Taiwanese family
Q43818715Psychometric validation of two patient-reported outcome measures to assess symptom severity and changes in symptoms in hereditary angioedema
Q93945604Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients
Q36925176Recent developments in the treatment of acute abdominal and facial attacks of hereditary angioedema: focus on human C1 esterase inhibitor
Q39208245Repeat treatment of acute hereditary angioedema attacks with open-label icatibant in the FAST-1 trial.
Q38855032The Story of Angioedema: from Quincke to Bradykinin
Q37853060The many faces of the contact pathway and their role in thrombosis

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