Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.
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Ciliogenesis and the DNA damage response: a stressful relationshipUpdate on oral-facial-digital syndromes (OFDS)Human basal body basicsGenetics and genomic medicine in Saudi ArabiaMutations of CEP83 cause infantile nephronophthisis and intellectual disabilityGenome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy.Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.The essential roles of transition fibers in the context of cilia.Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingGenetic link between renal birth defects and congenital heart diseaseThe hydrolethalus syndrome protein HYLS-1 regulates formation of the ciliary gateOpen Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypesCEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme.Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling.Ciliopathies.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Genes and molecular pathways underpinning ciliopathies.OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).Sex differences in the late first trimester human placenta transcriptome.A distal centriolar protein network controls organelle maturation and asymmetry
P2860
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P2860
Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.
@en
type
label
Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.
@en
prefLabel
Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.
@en
P2093
P2860
P356
P1433
P1476
Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.
@en
P2093
Amal Alhashem
Amer Ammari
Nouran Adly
P2860
P356
10.1002/HUMU.22477
P577
2013-11-25T00:00:00Z