Literature DB >> 10835625

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

T Watnick1, N He, K Wang, Y Liang, P Parfrey, D Hefferton, P St George-Hyslop, G Germino, Y Pei.   

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2. The products of these genes associate to form heteromeric complexes. Several models have been proposed to explain the mechanism of cyst formation. Here we find somatic mutations of PKD2 in 71% of ADPKD2 cysts analysed. Clonal somatic mutations of PKD1 were identified in a subset of cysts that lacked PKD2 mutations.

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Year:  2000        PMID： 10835625     DOI： 10.1038/75981

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  37 in total

Review 1.  Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Authors:  Jeffrey E Ming; Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

2.  Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.

Authors:  Y Pei; A D Paterson; K R Wang; N He; D Hefferton; T Watnick; G G Germino; P Parfrey; S Somlo; P St George-Hyslop
Journal:  Am J Hum Genet       Date:  2001-01-10       Impact factor: 11.025

Review 3.  Polycystic liver diseases: advanced insights into the molecular mechanisms.

Authors:  Maria J Perugorria; Tatyana V Masyuk; Jose J Marin; Marco Marzioni; Luis Bujanda; Nicholas F LaRusso; Jesus M Banales
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2014-09-30       Impact factor: 46.802

Review 4.  Diagnosis and screening of autosomal dominant polycystic kidney disease.

Authors:  York Pei; Terry Watnick
Journal:  Adv Chronic Kidney Dis       Date:  2010-03       Impact factor: 3.620

Review 5.  Molecular advances in autosomal dominant polycystic kidney disease.

Authors:  Anna Rachel Gallagher; Gregory G Germino; Stefan Somlo
Journal:  Adv Chronic Kidney Dis       Date:  2010-03       Impact factor: 3.620

6.  Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

Authors:  Y Niida; A O Stemmer-Rachamimov; M Logrip; D Tapon; R Perez; D J Kwiatkowski; K Sims; M MacCollin; D N Louis; V Ramesh
Journal:  Am J Hum Genet       Date:  2001-07-20       Impact factor: 11.025

7.  Small-molecule CFTR inhibitors slow cyst growth in polycystic kidney disease.

Authors:  Baoxue Yang; Nitin D Sonawane; Dan Zhao; Stefan Somlo; A S Verkman
Journal:  J Am Soc Nephrol       Date:  2008-04-02       Impact factor: 10.121

8.  Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways.

Authors:  Panayiota Koupepidou; Kyriacos N Felekkis; Bettina Kränzlin; Carsten Sticht; Norbert Gretz; Constantinos Deltas
Journal:  BMC Nephrol       Date:  2010-09-02       Impact factor: 2.388

9.  Cerebral cavernous malformations: somatic mutations in vascular endothelial cells.

Authors:  Judith Gault; Issam A Awad; Peter Recksiek; Robert Shenkar; Robert Breeze; Michael Handler; Bette K Kleinschmidt-DeMasters
Journal:  Neurosurgery       Date:  2009-07       Impact factor: 4.654

10.  Emerging evidence of a link between the polycystins and the mTOR pathways.

Authors:  Alessandra Boletta
Journal:  Pathogenetics       Date:  2009-10-28
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