نتایج جستجو برای: pkd1 gene

تعداد نتایج: 1141754  

2017
Daniel M Borràs Rolf H A M Vossen Michael Liem Henk P J Buermans Hans Dauwerse Dave van Heusden Ron T Gansevoort Johan T den Dunnen Bart Janssen Dorien J M Peters Monique Losekoot Seyed Yahya Anvar

A genetic diagnosis of autosomal-dominant polycystic kidney disease (ADPKD) is challenging due to allelic heterogeneity, high GC content, and homology of the PKD1 gene with six pseudogenes. Short-read next-generation sequencing approaches, such as whole-genome sequencing and whole-exome sequencing, often fail at reliably characterizing complex regions such as PKD1. However, long-read single-mol...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2000
K Kim I Drummond O Ibraghimov-Beskrovnaya K Klinger M A Arnaout

Autosomal dominant polycystic kidney disease (ADPKD), often caused by mutations in the PKD1 gene, is associated with life-threatening vascular abnormalities that are commonly attributed to the frequent occurrence of hypertension. A previously reported targeted mutation of the mouse homologue of PKD1 was not associated with vascular fragility, leading to the suggestion that the vascular lesion m...

Journal: :Human molecular genetics 1999
P C Harris

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutation of one of two genes: PKD1 (16p13.3) or PKD2 (4q13-23). PKD1 accounts for approximately 85% of pedigrees and is associated with significantly more severe cystic disease. The ADPKD genes encode proteins, polycystin-1 and polycystin-2, which are very different in size and structure, but which have a region of homology and m...

Journal: :Current Biology 1999
Alex Bateman Richard Sandford

Südhof TC: α α-Latrotoxin receptor CIRL/latrophilin 1 (CL1) defines an unusual family of ubiquitous G-protein-linked receptors. requirements for α α-latrotoxin binding and α α-latrotoxin-stimulated secretion. α α-Latrotoxin stimulates exocytosis by the interaction with a neuronal G-protein-coupled receptor. AG: A novel ubiquitously expressed α α-latrotoxin receptor is a member of the CIRL famil...

Journal: :Nephrology Dialysis Transplantation 2023

Abstract Background and Aims Acute kidney injury (AKI) is not a merely transient event, which can lead to subsequent progression chronic disease (CKD). Autosomal dominant polycystic (ADPKD) the most frequent inherited caused by mutations in PKD1 or PKD2 gene. Previous studies showed that acute injuries promote cystogenesis adult mice with ADPKD. Fibrosis hallmark of AKI CKD (AKI-CKD) transition...

Journal: :Human molecular genetics 2009
Cleo S Bonnet Mark Aldred Christopher von Ruhland Rebecca Harris Richard Sandford Jeremy P Cheadle

Clinical trials are underway for the treatment of tuberous sclerosis (TSC)-associated tumours using mTOR inhibitors. Here, we show that many of the earliest renal lesions from Tsc1+/- and Tsc2+/- mice do not exhibit mTOR activation, suggesting that pharmacological targeting of an alternative pathway may be necessary to prevent tumour formation. Patients with TSC often develop renal cysts and th...

Journal: :Journal of medical genetics 1990
M H Breuning F G Snijdewint J G Dauwerse J J Saris E Bakker P L Pearson G J vanOmmen

Polymorphic DNA markers can now be used for presymptomatic and prenatal diagnosis of the autosomal dominant form of polycystic kidney disease (PKD). A detailed map is known for the chromosomal region around the PKD1 gene on the short arm of chromosome 16. We present here a simple, two step procedure for diagnosis of PKD1 by family studies. Using this approach, at least 92% of random subjects ar...

Journal: :Human molecular genetics 1997
R Sandford B Sgotto S Aparicio S Brenner M Vaudin R K Wilson S Chissoe K Pepin A Bateman C Chothia J Hughes P Harris

PKD1 is the major locus of the common genetic disorder autosomal dominant polycystic kidney disease (ADPKD). Analysis of the predicted protein sequence of the human PKD1 gene, polycystin, shows a large molecule with a unique arrangement of extracellular domains and multiple putative transmembrane regions. The precise function of polycystin remains unclear with a paucity of mutations to define k...

Journal: :Human molecular genetics 1996
B Peral A C Ong J L San Millán V Gamble L Rees P C Harris

Autosomal dominant polycystic kidney disease (ADPKD) is the most common single gene disorder resulting in renal failure. It is generally an adult onset disease, but rarely, cases of severe childhood polycystic disease arise in ADPKD families. The clear clinical anticipation in these pedigrees has led to the suggestion that the mutation may be an unstable trinucleotide repeat. We have now identi...

Journal: :American journal of physiology. Renal physiology 2008
M Rafiq Islam Sanjeev Puri Marianna Rodova Brenda S Magenheimer Robin L Maser James P Calvet

The retinoic acids all-trans retinoic acid (AT-RA) and 9-cis retinoic acid (9C-RA) and the retinoic acid receptors RAR and RXR significantly induce transcriptional activity from a 200-bp PKD1 proximal promoter in transfected mammalian cells. This PKD1 promoter region contains Ets, p53, and GC box motifs, but lacks a canonical RAR/RXR motif. Mutagenesis of the Ets sites did not affect RA inducti...

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