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CNGA3 gene
Known as:
CCNCa
, CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3
, CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation
J. Täger
,
S. Kohl
,
D. Birch
,
D. Wheaton
,
B. Wissinger
,
Peggy Reuter
Experimental Eye Research
2018
Corpus ID: 5005442
2012
2012
CNGA3 is expressed in inner ear hair cells and binds to an intracellular C-terminus domain of EMILIN1.
D. Selvakumar
,
M. Drescher
,
+4 authors
D. Drescher
Biochemical Journal
2012
Corpus ID: 20771217
The molecular characteristics of CNG (cyclic nucleotide-gated) channels in auditory/vestibular hair cells are largely unknown…
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2011
2011
Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3
M. Saqib
,
B. Awan
,
Mehwish Sarfraz
,
M. N. Khan
,
Sajid Rashid
,
M. Ansar
Japanese Journal of Ophthalmology
2011
Corpus ID: 31766297
BackgroundTo identify the causative variants of achromatopsia (ACHM) in four Pakistani families presenting autosomal recessive…
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2011
2011
Altered synaptic plasticity and behavioral abnormalities in CNGA3‐deficient mice
S. Michalakis
,
T. Kleppisch
,
+6 authors
M. Biel
Genes, Brain and Behavior
2011
Corpus ID: 36540602
The role of the cyclic nucleotide‐gated (CNG) channel CNGA3 is well established in cone photoreceptors and guanylyl cyclase‐D…
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2008
2008
CNGA3 mutations in two United Arab Emirates families with achromatopsia
Yachna Ahuja
,
S. Kohl
,
E. Traboulsi
Molecular Vision
2008
Corpus ID: 7947101
Purpose Achromatopsia results from mutations in one of three genes: cyclic nucleotide-gated channel, alpha-3 (CNGA3); cyclic…
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2006
2006
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia
S. Goto-Omoto
,
Takaaki Hayashi
,
T. Gekka
,
A. Kubo
,
T. Takeuchi
,
K. Kitahara
Visual Neuroscience
2006
Corpus ID: 22582346
Congenital achromatopsia is a stationary retinal disorder with autosomal recessive inheritance that is characterized by loss of…
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2005
2005
Clinical and genetic features of Hungarian achromatopsia patients.
B. Varsányi
,
B. Wissinger
,
S. Kohl
,
K. Koeppen
,
Á. Farkas
Molecular Vision
2005
Corpus ID: 14449920
PURPOSE To describe the clinical features and molecular genetic findings in a collection of Hungarian achromatopsia patients…
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2004
2004
[Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].
U. Kellner
,
B. Wissinger
,
S. Kohl
,
H. Kraus
,
M. Foerster
Der Ophthalmologe
2004
Corpus ID: 116090338
PURPOSE This study compares clinical and molecular genetic findings in patients with congenital cone dysfunction. METHODS In…
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Highly Cited
1996
Highly Cited
1996
Molecular Cloning and Expression of a Modulatory Subunit of the Cyclic Nucleotide-gated Cation Channel (*)
M. Biel
,
X. Zong
,
A. Ludwig
,
A. Sautter
,
F. Hofmann
Journal of Biological Chemistry
1996
Corpus ID: 43656218
The cDNA of three variants of a cyclic nucleotide-gated (CNG) channel modulatory subunit (CNG4c-CNG4e) has been cloned. CNG4c…
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Highly Cited
1994
Highly Cited
1994
Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells
M. Distler
,
M. Biel
,
V. Flockerzi
,
F. Hofmann
Neuropharmacology
1994
Corpus ID: 35784152
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