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FAM161A gene
Known as:
FAM161A
, family with sequence similarity 161 member A
, FLJ13305
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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.
2016
2016
Molecular portrait of a rare case of metastatic glioblastoma: somatic and germline mutations using whole-exome sequencing
S. Franceschi
2016
Corpus ID: 439701
for driver mutations. We found 4 variations in genes identified as tumor sup-pressors: RB1 deletion of 5 bases (Gln257fs), CREBBP…
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2015
2015
Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.
Silvio Alessandro Di Gioia
,
P. Farinelli
,
+4 authors
C. Rivolta
Human Molecular Genetics
2015
Corpus ID: 28901290
Defects in FAM161A, a protein of unknown function localized at the cilium of retinal photoreceptor cells, cause retinitis…
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2015
2015
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population
Yu Zhou
,
B. B. Saikia
,
+13 authors
Xianjun Zhu
Journal of Human Genetics
2015
Corpus ID: 24129851
Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 50 genes. To…
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Highly Cited
2014
Highly Cited
2014
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
M. Karlstetter
,
N. Sorusch
,
+10 authors
T. Langmann
Human Molecular Genetics
2014
Corpus ID: 11939593
Mutations in the FAM161A gene were previously identified as the cause for autosomal-recessive retinitis pigmentosa 28. To study…
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2014
2014
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family
D. Zobor
,
Ghassan Balousha
,
Britta Baumann
,
B. Wissinger
Molecular Vision
2014
Corpus ID: 17129484
Purpose: Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 45…
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2014
2014
Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration
J. Duncan
,
P. Biswas
,
+11 authors
R. Ayyagari
Ophthalmic Genetics
2014
Corpus ID: 23014369
Abstract Background: Characterization of retinal degeneration (RD) using high-resolution retinal imaging and exome sequencing may…
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Review
2014
Review
2014
FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa.
F. Zach
,
H. Stöhr
Advances in Experimental Medicine and Biology
2014
Corpus ID: 46405216
Retinitis pigmentosa (RP) is an inherited disease of the retina leading to vision impairment due to progressive photoreceptor…
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2014
2014
Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa
Giulia Venturini
,
Silvio Alessandro Di Gioia
,
S. Harper
,
C. Weigel-DiFranco
,
C. Rivolta
,
E. Berson
PLoS ONE
2014
Corpus ID: 17733
Retinitis pigmentosa (RP) is a hereditary disease that leads to the progressive degeneration of retinal photoreceptor cells and…
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Highly Cited
2012
Highly Cited
2012
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
Silvio Alessandro Di Gioia
,
S. Letteboer
,
+6 authors
C. Rivolta
Human Molecular Genetics
2012
Corpus ID: 15937822
Retinitis pigmentosa (RP) is a retinal degenerative disease characterized by the progressive loss of photoreceptors. We have…
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2012
2012
The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association.
F. Zach
,
F. Grassmann
,
T. Langmann
,
N. Sorusch
,
U. Wolfrum
,
H. Stöhr
Human Molecular Genetics
2012
Corpus ID: 14917855
Loss-of-function mutations in the gene encoding FAM161A were recently discovered as the cause for RP28, an autosomal recessive…
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