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WDR60 gene

Known as: WDR60, FAP163, WD REPEAT-CONTAINING PROTEIN 60 
 
National Institutes of Health

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
The dynein-2 complex mediates trafficking of ciliary proteins by powering the intraflagellar transport (IFT) machinery containing… Expand
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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…
OBJECTIVE We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome… Expand
2017
2017
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum
We previously reported exome sequencing in a short‐rib thoracic dystrophy (SRTD) cohort, in whom recessive mutations were… Expand
2016
2016
New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.
Jeune asphyxiating thoracic dystrophy (JATD; Jeune syndrome, MIM 208500) is a rare autosomal recessive chondrodysplasia… Expand
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2015
2015
Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis
Short-rib polydactyly syndromes (SRPS) arise from mutations in genes involved in retrograde intraflagellar transport (IFT) and… Expand
2015
2015
TCTEX1D2, a potential link to skeletal ciliopathies
The primary cilium is a specialized dynamic signaling compartment that regulates cellular differentiation by the vertebrate… Expand
Highly Cited
2014
Highly Cited
2014
Subunit composition of the human cytoplasmic dynein-2 complex
ABSTRACT Cytoplasmic dynein-2 is the motor for retrograde intraflagellar transport (IFT), and mutations in dynein-2 are known to… Expand
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Highly Cited
2013
Highly Cited
2013
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
Short-rib polydactyly syndromes (SRPS I-V) are a group of lethal congenital disorders characterized by shortening of the ribs and… Expand
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2013
2013
WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia
WD60/FAP163 is identified as an additional intermediate chain of the dynein that powers retrograde intraflagellar transport. Lack… Expand
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Highly Cited
2013
Highly Cited
2013
Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1
BackgroundRecently, genome-wide association studies (GWAS) for cases versus controls using single nucleotide polymorphism… Expand
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