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WDR60 gene

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

Papers overview

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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
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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
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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.
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
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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
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2014
2014
Subunit composition of the human cytoplasmic dynein-2 complex
Cytoplasmic dynein-2 is the motor for retrograde intraflagellar transport (IFT), and mutations in dynein-2 are known to cause… 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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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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2013
2013
WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia
Retrograde intraflagellar transport (IFT) is required for assembly of cilia. We identify a Chlamydomonas flagellar protein… Expand
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