Novel mutation in X-linked inhibitor of apoptosis (XIAP) in two Chinese Singapore brothers with nucleotide-binding and oligomerisation domain (NOD)-2 signalling defect

2017 ◽  
Author(s):  
Zhong Youjia
Keyword(s):  
Novel Mutation ◽  
Nucleotide Binding ◽  
Inhibitor Of Apoptosis

A Novel Mutation in the X-Linked Inhibitor of Apoptosis Protein Causing a Multi-System Autoinflammatory Disorder

2012 ◽  
Vol 1 (4) ◽  
pp. 227 ◽  
Author(s):  
Ariane Standing ◽  
Despina Eleftheriou ◽  
Ebun Omoyinmi ◽  
Alice Chieng ◽  
Nigel Klein ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Inhibitor Of Apoptosis ◽  
Autoinflammatory Disorder ◽  
Inhibitor Of Apoptosis Protein ◽  
Apoptosis Protein

A Novel X-Linked Inhibitor of Apoptosis Deficient Variant Showing Attenuated Epstein-Barr Virus Response

2020 ◽  
Author(s):  
Youjia Zhong ◽  
Chiung-Hui Huang ◽  
Win Mar Soe ◽  
Koon Wing Chan ◽  
Mas Suhaila Isa ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Epstein Barr Virus ◽  
Virus Disease ◽  
Muramyl Dipeptide ◽  
Nucleotide Binding ◽  
Inhibitor Of Apoptosis ◽  
Barr Virus ◽  
Epstein Barr ◽  
Oligomerization Domain

Abstract We report on 2 Asian siblings with X-linked inhibitor of apoptosis deficiency that arose from a novel deletion that presented with Epstein-Barr virus disease and hemophagocytic lymphohistiocytosis. This disease is ascribed to dysfunction in the nucleotide binding and oligomerization domain receptor pathway, tested using a modified muramyl dipeptide–mediated assay.

Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene with good response to infliximab

2018 ◽  
Vol 35 (3) ◽  
pp. e180-e183 ◽  
Author(s):  
Jaime Toral-López ◽  
Luz M. González-Huerta ◽  
Mónica Martín-del Campo ◽  
Olga Messina-Baas ◽  
Sergio A. Cuevas-Covarrubias
Keyword(s):  
Novel Mutation ◽  
Nucleotide Binding ◽  
Blau Syndrome ◽  
Oligomerization Domain

758: Inflammatory and Anti-Inflammatory Regulators alter Levels of an Inhibitor of Apoptosis (IAP), Survivin, in T-24 Bladder Cancer Cells

2007 ◽  
Vol 177 (4S) ◽  
pp. 254-254
Author(s):  
Justin J. Cohen ◽  
Bayan T. Takizawa ◽  
Hristos Z. Kaimkliotis ◽  
David J. Rosenberg ◽  
Marcia A. Wheeler ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Cancer Cells ◽  
Inhibitor Of Apoptosis ◽  
Bladder Cancer Cells ◽  
Anti Inflammatory

Congenital mirror movements in a family with a novel mutation in the DCC gene

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
GC Korenke ◽  
M Wagner ◽  
A Maak ◽  
G Rosenberger ◽  
K Kutsche
Keyword(s):  
Novel Mutation ◽  
Mirror Movements ◽  
Dcc Gene

Inhibitor of apoptosis proteins (IAP) in adrenocortical tumors

2015 ◽  
Vol 122 (03) ◽  
Author(s):  
B Altieri ◽  
S Sbiera ◽  
S Della Casa ◽  
S Steinhauer ◽  
V Wild ◽  
...  
Keyword(s):  
Inhibitor Of Apoptosis ◽  
Inhibitor Of Apoptosis Proteins ◽  
Adrenocortical Tumors ◽  
Apoptosis Proteins

Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Presentation ◽  
Novel Mutation ◽  
Diagnostic Workup ◽  
Danon Disease ◽  
Lamp2 Gene

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

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