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Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 2, p. 607, doi. 10.1172/JCI76972
By:
- Gainullin, Vladimir G.;
- Hopp, Katharina;
- Ward, Christopher J.;
- Hommerding, Cynthia J.;
- Harris, Peter C.
Publication type:
Article
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 11, p. 4257, doi. 10.1172/JCI64313
By:
- Hopp, Katharina;
- Ward, Christopher J.;
- Hommerding, Cynthia J.;
- Nasr, Samih H.;
- Han-Fang Tuan;
- Gainullin, Vladimir G.;
- Rossetti, Sandro;
- Torres, Vicente E.;
- Harris, Peter C.
Publication type:
Article
Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
Published in:
Human Genetics, 2007, v. 121, n. 5, p. 591, doi. 10.1007/s00439-007-0341-3
By:
- Consugar, Mark B.;
- Kubly, Vickie J.;
- Lager, Donna J.;
- Hommerding, Cynthia J.;
- Wai Chong Wong;
- Bakker, Egbert;
- Gattone II, Vincent H.;
- Torres, Vicente E.;
- Breuning, Martijn H.;
- Harris, Peter C.
Publication type:
Article
The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 10, p. 2024, doi. 10.1093/hmg/ddt054
By:
- Leightner, Amanda C.;
- Hommerding, Cynthia J.;
- Ying Peng;
- Salisbury, Jeffrey L.;
- Gainullin, Vladimir G.;
- Czarnecki, Peter G.;
- Sussman, Caroline R.;
- Harris, Peter C.
Publication type:
Article
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 13, p. 2524, doi. 10.1093/hmg/ddr151
By:
- Hopp, Katharina;
- Heyer, Christina M.;
- Hommerding, Cynthia J.;
- Henke, Susan A.;
- Sundsbak, Jamie L.;
- Patel, Shail;
- Patel, Priyanka;
- Consugar, Mark B.;
- Czarnecki, Peter G.;
- Gliem, Troy J.;
- Torres, Vicente E.;
- Rossetti, Sandro;
- Harris, Peter C.
Publication type:
Article
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 17, p. 3311, doi. 10.1093/hmg/ddp272
By:
- Tammachote, Rachaneekorn;
- Hommerding, Cynthia J.;
- Sinders, Rachel M.;
- Miller, Caroline A.;
- Czarnecki, Peter G.;
- Leightner, Amanda C.;
- Salisbury, Jeffrey L.;
- Ward, Christopher J.;
- Torres, Vicente E.;
- Gattone, Vincent H.;
- Harris, Peter C.
Publication type:
Article

Found: 6

Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.