نتایج جستجو برای: pkd2

تعداد نتایج: 596  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1999
L Tsiokas T Arnould C Zhu E Kim G Walz V P Sukhatme

The function(s) of the genes (PKD1 and PKD2) responsible for the majority of cases of autosomal dominant polycystic kidney disease is unknown. While PKD1 encodes a large integral membrane protein containing several structural motifs found in known proteins involved in cell-cell or cell-matrix interactions, PKD2 has homology to PKD1 and the major subunit of the voltage-activated Ca2+ channels. W...

Journal: :Journal of medical genetics 1997
D M Iglesias R S Martín A Fraga M Virginillo A R Kornblihtt E Arrizurieta M Viribay J L San Millán M Herrera V Bernath

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Up to three loci are involved in this disease, PKD1 on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Here we report the existence of locus heterogeneity for this disease in the Argentinian population by performing linkage analysis on 12 families of Caucasian origi...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2006
Ming Yang Chang Emma Parker Salwa Ibrahim John R Shortland Meguid El Nahas John L Haylor Albert C M Ong

BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited human kidney disease and is caused by germline mutations in PKD1 (85%) or PKD2 (15%). It has been estimated that around 1% of tubular cells give rise to cysts, and cell hyperproliferation has been noted to be a cardinal feature of cystic epithelium. Nevertheless, it is uncertain whether the increase in ...

Journal: :The Biochemical journal 2010
Katrina L Molland Anoop Narayanan John W Burgner Dinesh A Yernool

Polycystin 2-type cation channels PKD2 and PKD2L1 interact with polycystin 1-type proteins PKD1 and PKD1L3 respectively, to form receptor-cation-channel complexes. The PKD2L1-PKD1L3 complex perceives sour taste, whereas disruption of the PKD2-PKD1 complex, responsible for mechanosensation, leads to development of ADPKD (autosomal-dominant polycystic kidney disease). Besides modulating channel a...

Journal: :The American journal of physiology 1999
Glen S Markowitz Yiqiang Cai Li Li Guanqing Wu Llewellyn C Ward Stefan Somlo Vivette D D'Agati

PKD2 encodes a protein of unknown function that is mutated in 15% of autosomal dominant polycystic kidney disease (ADPKD) families. We used polyclonal antisera against PKD2 to examine the pattern of Pkd2 expression in staged mouse embryos. Staining for Pkd2 was documented as early as the 6th embryonic day ( day E6) in the embryonic ectoderm and endoderm. Low-intensity staining is seen in metane...

2014
Daniel Trujillano Gemma Bullich Stephan Ossowski José Ballarín Roser Torra Xavier Estivill Elisabet Ars

Molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) relies on mutation screening of PKD1 and PKD2, which is complicated by extensive allelic heterogeneity and the presence of six highly homologous sequences of PKD1. To date, specific sequencing of PKD1 requires laborious long-range amplifications. The high cost and long turnaround time of PKD1 and PKD2 mutation analysi...

2016
Meiling Jin Yuansheng Xie Zhiqiang Chen Yujie Liao Zuoxiang Li Panpan Hu Yan Qi Zhiwei Yin Qinggang Li Ping Fu Xiangmei Chen

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder mainly caused by mutation in PKD1/PKD2. However, ethnic differences in mutations, the association between mutation genotype/clinical phenotype, and the clinical applicable value of mutation detection are poorly understood. We made systematically analysis of Chinese ADPKD patients based on a next-ge...

Journal: :Clinical journal of the American Society of Nephrology : CJASN 2009
Kiarong Wang Xiao Zhao Shelly Chan Onur Cil Ning He Xuewen Song Andrew D Paterson York Pei

BACKGROUND AND OBJECTIVES Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by locus and allelic heterogeneity, large multi-exon gene structure and duplication in PKD1, and a high level of unclassified variants. Comprehensive screening of PKD1 and PKD2 by two recent studies have shown that atypical splice mutations account for 3.5% to 5%...

2010
Ganesh Varma Pusapati Denis Krndija Milena Armacki Götz von Wichert Julia von Blume Vivek Malhotra Guido Adler Thomas Seufferlein

Protein kinase D (PKD) isoenzymes regulate the formation of transport carriers from the trans-Golgi network (TGN) that are en route to the plasma membrane. The PKD C1a domain is required for the localization of PKDs at the TGN. However, the precise mechanism of how PKDs are recruited to the TGN is still elusive. Here, we report that ADP-ribosylation factor (ARF1), a small GTPase of the Ras supe...

Journal: :Human molecular genetics 2003
Qi Qian Larry W Hunter Ming Li Miguel Marin-Padilla Y S Prakash Stefan Somlo Peter C Harris Vicente E Torres Gary C Sieck

Autosomal-dominant polycystic kidney disease is a multiorgan disease and its vascular manifestations are common and life-threatening. Despite this, little is known about their pathogenesis. Somatic mutations to the normal PKD allele in cystic epithelia and cyst development associated with the unstable Pkd2(WS25) allele suggest a two-hit model of cystogenesis. However, it is unclear if this mode...

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