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TMEM67 gene

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

Papers overview

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2015
2015
ABSTRACT Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3… 
Highly Cited
2012
Highly Cited
2012
MKS3, encoding the transmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive ciliopathy… 
Highly Cited
2010
Highly Cited
2010
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2… 
Review
2010
Review
2010
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies… 
Highly Cited
2009
Highly Cited
2009
Meckel-Gruber syndrome (MKS) is a severe autosomal recessively inherited disorder caused by mutations in genes that encode… 
Highly Cited
2009
Highly Cited
2009
Background: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal… 
Highly Cited
2007
Highly Cited
2007
Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia… 
Review
2007
Review
2007
  • Chih-ping Chen
  • Taiwanese Journal of Obstetrics & Gynecology
  • 2007
  • Corpus ID: 9426295
Highly Cited
2006
Highly Cited
2006
Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia…