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TMEM67 gene
Known as:
NPHP11
, TRANSMEMBRANE PROTEIN 67
, JBTS6
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National Institutes of Health
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Related topics
Related topics
2 relations
JOUBERT SYNDROME 6
Meckel 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
Z. Abdelhamed
,
S. Natarajan
,
+4 authors
D. Jagger
Disease Models & Mechanisms
2015
Corpus ID: 12515003
ABSTRACT Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3…
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Highly Cited
2012
Highly Cited
2012
A meckelin-filamin A interaction mediates ciliogenesis.
M. Adams
,
R. Simms
,
+11 authors
Colin A. Johnson
Human Molecular Genetics
2012
Corpus ID: 205101488
MKS3, encoding the transmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive ciliopathy…
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Highly Cited
2010
Highly Cited
2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
E. Valente
,
C. Logan
,
+48 authors
J. Gleeson
Nature Genetics
2010
Corpus ID: 11998976
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2…
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Review
2010
Review
2010
Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies
M. Iannicelli
,
F. Brancati
,
+29 authors
E. Valente
Human Mutation
2010
Corpus ID: 23386836
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies…
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Highly Cited
2009
Highly Cited
2009
Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton
H. Dawe
,
M. Adams
,
+5 authors
Colin A. Johnson
Journal of Cell Science
2009
Corpus ID: 6435558
Meckel-Gruber syndrome (MKS) is a severe autosomal recessively inherited disorder caused by mutations in genes that encode…
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Highly Cited
2009
Highly Cited
2009
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
E. Otto
,
K. Tory
,
+13 authors
F. Hildebrandt
Journal of Medical Genetics
2009
Corpus ID: 8129224
Background: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal…
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2009
2009
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
M. Gunay‐Aygun
,
M. Parisi
,
+12 authors
W. Gahl
Jornal de Pediatria
2009
Corpus ID: 13790642
Highly Cited
2007
Highly Cited
2007
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
H. Dawe
,
U. Smith
,
+12 authors
Colin A. Johnson
Human Molecular Genetics
2007
Corpus ID: 21843675
Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia…
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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
U. Smith
,
Mark B. Consugar
,
+28 authors
Colin A. Johnson
Nature Genetics
2006
Corpus ID: 975892
Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia…
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