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WDR60 gene
Known as:
WDR60
, FAP163
, WD REPEAT-CONTAINING PROTEIN 60
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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
Interaction of WDR60 intermediate chain with TCTEX1D2 light chain of the dynein-2 complex is crucial for ciliary protein trafficking
Yuki Hamada
,
Yuta Tsurumi
,
Shohei Nozaki
,
Yohei Katoh
,
K. Nakayama
Molecular Biology of the Cell
2018
Corpus ID: 13662688
The dynein-2 complex mediates trafficking of ciliary proteins by powering the intraflagellar transport (IFT) machinery containing…
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2018
2018
Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a…
Chih-ping Chen
,
T. Ko
,
+5 authors
Wayseen Wang
Taiwanese Journal of Obstetrics & Gynecology
2018
Corpus ID: 3439008
2017
2017
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum
A. McInerney-Leo
,
L. Wheeler
,
+6 authors
E. Duncan
American Journal of Medical Genetics. Part A
2017
Corpus ID: 9513941
We previously reported exome sequencing in a short‐rib thoracic dystrophy (SRTD) cohort, in whom recessive mutations were…
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2016
2016
New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.
C. Cossu
,
F. Incani
,
+4 authors
M. Rosatelli
Clinica chimica acta; international journal of…
2016
Corpus ID: 206518394
2015
2015
Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis
A. Gholkar
,
S. Senese
,
+8 authors
J. Torres
Cell Cycle
2015
Corpus ID: 18656435
Short-rib polydactyly syndromes (SRPS) arise from mutations in genes involved in retrograde intraflagellar transport (IFT) and…
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2015
2015
TCTEX1D2, a potential link to skeletal ciliopathies
Saikat Mukhopadhyay
Cell Cycle
2015
Corpus ID: 22316248
The primary cilium is a specialized dynamic signaling compartment that regulates cellular differentiation by the vertebrate…
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Highly Cited
2014
Highly Cited
2014
Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1
Wei Xu
,
S. Cohen-woods
,
+16 authors
J. Vincent
BMC Medical Genetics
2014
Corpus ID: 15952236
BackgroundRecently, genome-wide association studies (GWAS) for cases versus controls using single nucleotide polymorphism…
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Highly Cited
2014
Highly Cited
2014
Subunit composition of the human cytoplasmic dynein-2 complex
D. Asante
,
N. Stevenson
,
D. Stephens
Journal of Cell Science
2014
Corpus ID: 5733341
ABSTRACT Cytoplasmic dynein-2 is the motor for retrograde intraflagellar transport (IFT), and mutations in dynein-2 are known to…
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Highly Cited
2013
Highly Cited
2013
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
A. McInerney-Leo
,
M. Schmidts
,
+14 authors
C. Wicking
American Journal of Human Genetics
2013
Corpus ID: 46485552
2013
2013
WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia
R. Patel-King
,
Renée M. Gilberti
,
E. Hom
,
S. King
Molecular Biology of the Cell
2013
Corpus ID: 10576494
WD60/FAP163 is identified as an additional intermediate chain of the dynein that powers retrograde intraflagellar transport. Lack…
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