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TMEM67 gene

Known as: NPHP11, TRANSMEMBRANE PROTEIN 67, JBTS6 
National Institutes of Health

Related topics

Related topics

2 relations
JOUBERT SYNDROME 6Meckel syndrome type 3

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway
ABSTRACT Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3… 
Highly Cited
2012
Highly Cited
2012
A meckelin-filamin A interaction mediates ciliogenesis.
MKS3, encoding the transmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive ciliopathy… 
Highly Cited
2010
Highly Cited
2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2… 
Review
2010
Review
2010
Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies… 
Highly Cited
2009
Highly Cited
2009
Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton
Meckel-Gruber syndrome (MKS) is a severe autosomal recessively inherited disorder caused by mutations in genes that encode… 
Highly Cited
2009
Highly Cited
2009
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
Background: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal… 
2009
2009
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
Highly Cited
2007
Highly Cited
2007
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia… 
Review
2007
Review
2007
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
  • Chih-ping Chen
  • Taiwanese Journal of Obstetrics & Gynecology
  • 2007
  • Corpus ID: 9426295
Highly Cited
2006
Highly Cited
2006
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia… 
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