about
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomaliesUpdate on oral-facial-digital syndromes (OFDS)Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationAdvances in Skeletal Dysplasia GeneticsTectonic gene mutations in patients with Joubert syndrome.The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisisMutations of CEP83 cause infantile nephronophthisis and intellectual disabilityTMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersFormation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundanceIdentification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Mutation spectrum of Joubert syndrome and related disorders among Arabs.Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionMutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersMutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesJoubert syndrome: congenital cerebellar ataxia with the molar toothJoubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneityOpen Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.Genomic approaches for studying craniofacial disorders.Primary cilia in neurodevelopmental disorders.Hedgehog: Multiple Paths for Multiple Roles in Shaping the Brain and Spinal Cord.Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.Lentivirus-Mediated knockdown of tectonic family member 1 inhibits medulloblastoma cell proliferation.Ciliopathies.Motile and non-motile cilia in human pathology: from function to phenotypes.Photoreceptor Cilia and Retinal Ciliopathies.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.C5orf42 is the major gene responsible for OFD syndrome type VI.Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.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).Molecular genetic analysis of 30 families with Joubert syndrome.Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
TCTN3 mutations cause Mohr-Majewski syndrome
@ast
TCTN3 mutations cause Mohr-Majewski syndrome
@en
TCTN3 mutations cause Mohr-Majewski syndrome
@en-gb
TCTN3 mutations cause Mohr-Majewski syndrome
@nl
type
label
TCTN3 mutations cause Mohr-Majewski syndrome
@ast
TCTN3 mutations cause Mohr-Majewski syndrome
@en
TCTN3 mutations cause Mohr-Majewski syndrome
@en-gb
TCTN3 mutations cause Mohr-Majewski syndrome
@nl
prefLabel
TCTN3 mutations cause Mohr-Majewski syndrome
@ast
TCTN3 mutations cause Mohr-Majewski syndrome
@en
TCTN3 mutations cause Mohr-Majewski syndrome
@en-gb
TCTN3 mutations cause Mohr-Majewski syndrome
@nl
P2093
P2860
P50
P3181
P1476
TCTN3 mutations cause Mohr-Majewski syndrome
@en
P2093
Albert David
Bettina Bessières
Colin A Johnson
Dominique Gaillard
Frédérique Jossic
Katarzyna Szymanska
Laurence Loeuillet
Marie-Anne Barthez
Marine Legendre
Maryse Bonnière
P2860
P3181
P356
10.1016/J.AJHG.2012.06.017
P407
P50
P577
2012-08-10T00:00:00Z