Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
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Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromesIFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndromeTethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesisMutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesDestabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.Ciliopathies.Motile and non-motile cilia in human pathology: from function to phenotypes.Primary Cilia and Mammalian Hedgehog Signaling.Photoreceptor Cilia and Retinal Ciliopathies.Sonic Hedgehog Signaling in Limb DevelopmentGenes and molecular pathways underpinning ciliopathies.An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Primary cilia proteins: ciliary and extraciliary sites and functions.The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance.A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.A distal centriolar protein network controls organelle maturation and asymmetry
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P2860
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
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2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
@zh-hk
2015年論文
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2015年論文
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name
Mutations in KIAA0586 Cause Le ...... hort-Rib Polydactyly Syndrome.
@en
type
label
Mutations in KIAA0586 Cause Le ...... hort-Rib Polydactyly Syndrome.
@en
prefLabel
Mutations in KIAA0586 Cause Le ...... hort-Rib Polydactyly Syndrome.
@en
P2093
P2860
P50
P1476
Mutations in KIAA0586 Cause Le ...... hort-Rib Polydactyly Syndrome.
@en
P2093
Amale Ichkou
André Megarbané
Bettina Bessières
Caroline Alby
Christine Bole
Fanny Pelluard
Ferechté Encha-Ravazi
Georges Abi-Tayeh
Hajnalka Szabó
Kevin Piquand
P2860
P304
P356
10.1016/J.AJHG.2015.06.003
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P50
P577
2015-07-09T00:00:00Z