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ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

Journal of cell science, 2010-05, Vol.123 (10), p.1785-1795

2010

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Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

Human molecular genetics, 2005-03, Vol.14 (5), p.645-656

2005

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Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros

Human molecular genetics, 2011-07, Vol.20 (13), p.2611-2627

2011

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A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS

Journal of the American Society of Nephrology, 2014-11, Vol.25 (11), p.2435-2443

2014

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Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis

American journal of human genetics, 2000-03, Vol.66 (3), p.778-789

2000

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The renal inflammatory network of nephronophthisis

Human molecular genetics, 2022-07, Vol.31 (13), p.2121-2136

2022

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Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Proceedings of the National Academy of Sciences - PNAS, 2022-05, Vol.119 (18), p.e2115960119

2022

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Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Proceedings of the National Academy of Sciences - PNAS, 2022-05, Vol.119 (18), p.1-e2115960119

2022

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Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

American journal of human genetics, 2014-02, Vol.94 (2), p.288-294

2014

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A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

Journal of the American Society of Nephrology, 2014-11, Vol.25 (11), p.2435-2443

2014

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Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Proceedings of the National Academy of Sciences - PNAS, 2020-01, Vol.117 (2), p.1113-1118

2020

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Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity

The Journal of cell biology, 2012-09, Vol.198 (5), p.927-940

2012

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Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

Human molecular genetics, 2009-12, Vol.18 (24), p.4711-4723

2009

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The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

Nature genetics, 2002-10, Vol.32 (2), p.300-305

2002

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Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

American journal of human genetics, 2014-05, Vol.94 (5), p.799-799

2014

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A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis

Human molecular genetics, 1997-12, Vol.6 (13), p.2317-2323

1997

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Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis

Human molecular genetics, 1996-03, Vol.5 (3), p.367-371

1996

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Dishevelled stablisation at the cilium by RPGRIP1L is essential for planar cell polarity

Cilia, 2012-11, Vol.1 (S1), p.O21-O21, Article O21

2012

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Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases

Cilia, 2012-11, Vol.1 (S1), p.P100-P100, Article P100

2012

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Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis

Cilia (London), 2012-11, Vol.1 (S1), p.P99-P99, Article P99

2012

Volltextzugriff (PDF)

A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q

Genomics (San Diego, Calif.), 1995-12, Vol.30 (3), p.514-520

1995

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Post-transcriptional regulation of transferrin receptor mRNA by IFNγ

Nucleic acids research, 1992-06, Vol.20 (12), p.2997-3003

1992

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ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros

A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS

Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis

The renal inflammatory network of nephronophthisis

Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis

Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis

Dishevelled stablisation at the cilium by RPGRIP1L is essential for planar cell polarity

Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis

A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q

Post-transcriptional regulation of transferrin receptor mRNA by IFNγ

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