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CLIC2 gene
Known as:
CHLORIDE INTRACELLULAR CHANNEL 2
, CLIC2
, XAP121
National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Xq28 duplication overlapping the int22h‐1/int22h‐2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability
Erica F Andersen
,
E. Baldwin
,
S. Ellingwood
,
Rosemarie Smith
,
A. Lamb
American Journal of Medical Genetics. Part A
2014
Corpus ID: 205318928
Duplications involving terminal Xq28 are a known cause of intellectual disability (ID) in males and in females with unfavorable X…
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Highly Cited
2013
Highly Cited
2013
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
A. Piton
,
C. Redin
,
J. Mandel
American Journal of Human Genetics
2013
Corpus ID: 35809479
Highly Cited
2012
Highly Cited
2012
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
Kyoko Takano
,
Dan Liu
,
+9 authors
A. Dulhunty
Human Molecular Genetics
2012
Corpus ID: 30625967
Chloride intracellular channel 2 (CLIC2) protein is a member of the glutathione transferase class of proteins. Its' only known…
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Highly Cited
2011
Highly Cited
2011
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics
Shawn Witham
,
Kyoko Takano
,
C. Schwartz
,
E. Alexov
Proteins: Structure, Function, and Bioinformatics
2011
Corpus ID: 41505579
Large‐scale next generation resequencing of X chromosome genes identified a missense mutation in the CLIC2 gene on Xq28 in a male…
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Highly Cited
2011
Highly Cited
2011
Epigenetic investigation of variably X chromosome inactivated genes in monozygotic female twins discordant for primary biliary cirrhosis
M. Mitchell
,
A. Lleo
,
+9 authors
J. LaSalle
Epigenetics
2011
Corpus ID: 22611496
Primary biliary cirrhosis (PBC) is an autoimmune chronic cholestatic liver disease with a strong genetic susceptibility due to…
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Review
2011
Review
2011
Regulation of the cardiac muscle ryanodine receptor by glutathione transferases
A. Dulhunty
,
R. Hewawasam
,
Dan Liu
,
M. Casarotto
,
P. Board
Drug metabolism reviews (Softcover ed.)
2011
Corpus ID: 24255278
Glutathione transferases (GSTs) are generally recognized for their role in phase II detoxification reactions. However, it is…
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2009
2009
CLIC2-RyR1 interaction and structural characterization by cryo-electron microscopy.
Xing Meng
,
Guoliang Wang
,
+7 authors
C. Yin
Journal of Molecular Biology
2009
Corpus ID: 11057740
Highly Cited
2007
Highly Cited
2007
Structure of the Janus protein human CLIC2.
B. Cromer
,
M. Gorman
,
+10 authors
M. Parker
Journal of Molecular Biology
2007
Corpus ID: 461516
Highly Cited
2000
Highly Cited
2000
Identification of a novel member of the chloride intracellular channel gene family (CLIC5) that associates with the actin cytoskeleton of placental microvilli.
M. Berryman
,
A. Bretscher
Molecular Biology of the Cell
2000
Corpus ID: 42246296
The chloride intracellular channel (CLIC) gene family has been implicated in chloride ion transport within various subcellular…
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Highly Cited
1997
Highly Cited
1997
Genomic structure of a novel chloride channel gene, CLIC2, in Xq28.
N. Heiss
,
A. Poustka
Genomics
1997
Corpus ID: 34438531
A transcript map was previously constructed in the 1200-kb telomeric region of Xq28. One of the cDNAs, XAP121, displayed homology…
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