Associated Papers
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.
Lange KI et al.
Human Molecular Genetics, 2022
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH et al.
Bmc Medical Genetics, 2020
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
Abdelhamed ZA et al.
Disease Models & Mechanisms, 2015
Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation.
Famiglietti ML et al.
Human Mutation, 2014
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
Szymanska K et al.
Cilia, 2012
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M et al.
Human Mutation, 2010
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D et al.
Journal of Medical Genetics, 2010
Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C.
Wang M et al.
The Journal of Biological Chemistry, 2009
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
Otto EA et al.
Journal of Medical Genetics, 2009
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
Consugar MB et al.
Human Genetics, 2007
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
Dawe HR et al.
Human Molecular Genetics, 2007
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Smith UM et al.
Nature Genetics, 2006
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