Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
Mark B. Consugar,Wai C. Wong,Patrick A. Lundquist,Sandro Rossetti,Vickie J. Kubly,Denise L. Walker,Laureano J. Rangel,Richard Aspinwall,W. Patrick Niaudet,Seza Ozen,Albert David,Milen Velinov,Eric J. Bergstralh,Kyongtae T. Bae,Arlene B. Chapman,Lisa M. Guay-Woodford,Jared J. Grantham,Vicente E. Torres,Julian R. Sampson,Brian Dawson,Peter C. Harris +20 more
Reads0
Chats0
TLDR
A multiplex ligation-dependent probe amplification assay was developed employing base-pair differences between PKD1 and the six pseudogenes to generate PKD 1-specific probes, which improves detection levels and the reliability of molecular testing of patients with ADPKD.About:
This article is published in Kidney International.The article was published on 2008-12-01 and is currently open access. It has received 120 citations till now. The article focuses on the topics: Contiguous gene syndrome & PKD1.read more
Citations
More filters
Journal ArticleDOI
Autosomal dominant polycystic kidney disease
TL;DR: An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation of its progression and systemic manifestations have laid out the foundation for the development of clinical trials and potentially effective treatments.
Book
Polycystic Kidney Disease
TL;DR: Rare, syndromic forms of PKD also include defects of the eye, central nervous system, digits, and/or neural tube and highlight the role of cilia and pathways such as Wnt and Hh in their pathogenesis.
Journal ArticleDOI
Autosomal dominant polycystic kidney disease: the last 3 years
TL;DR: An increased understanding of its underlying genetic, molecular, and cellular mechanisms and a better appreciation of its progression and systemic manifestations have laid out the foundation for the development of clinical trials and potentially effective therapies.
Journal ArticleDOI
Tuberous sclerosis complex
Elizabeth P. Henske,Sergiusz Jóźwiak,J. Christopher Kingswood,Julian R. Sampson,Elizabeth A. Thiele +4 more
TL;DR: The state-of-the-art knowledge in the TSC field is reviewed, including the molecular and cellular basis of the disease, medical management, major knowledge gaps and ongoing research towards a cure.
Journal ArticleDOI
Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Arlene B. Chapman,Olivier Devuyst,Kai-Uwe Eckardt,Ron T. Gansevoort,Tess Harris,Shigeo Horie,Bertram L. Kasiske,Dwight Odland,York Pei,Ronald D. Perrone,Yves Pirson,Robert W. Schrier,Roser Torra,Vicente E. Torres,Terry Watnick,David C. Wheeler +15 more
TL;DR: This review summarized areas of consensus, gaps in knowledge, and research and health-care priorities related to diagnosis; monitoring of kidney disease progression; management of hypertension, renal function decline and complications; end-stage renal disease; extrarenal complications; and practical integrated patient support that are summarized in this review.
References
More filters
Journal ArticleDOI
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
Jan P. Schouten,Cathal J. McElgunn,Raymond Waaijer,Danny A. Zwijnenburg,Filip Diepvens,Gerard Pals +5 more
TL;DR: A new method for relative quantification of 40 different DNA sequences in an easy to perform reaction requiring only 20 ng of human DNA is described.
Journal ArticleDOI
Identification and characterization of the tuberous sclerosis gene on chromosome 16
Mark Nellist,Bart Janssen,Phillip T. Brook-Carter,Arjenne L. W. Hesseling-Janssen,Magitha M. Maheshwar,Senno Verhoef,Ans M.W. van den Ouweland,Dick Lindhout,Bert Eussen,Isabel Cordeiro,Heloisa Santos,Dicky J. J. Halley,Julian R. Sampson,Christopher J. Ward,Belén Peral,Sandra Thomas,Jim R. Hughes,Peter C. Harris,Jeroen H. Roelfsema,Jasper J. Saris,Lia Spruit,Dorien J.M. Peters,J. G. Dauwerse,Martijn H. Bruening +23 more
TL;DR: Northern blot analysis identified a shortened transcript, while reduced expression was observed in another TSC family, confirming TSC2 as the chromosome 16 TSC gene, and its protein product, tuberin, has a region of homology to the GTPase-activating protein GAP3.
Journal ArticleDOI
PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
Toshio Mochizuki,Guanqing Wu,Tomohito Hayashi,Stavroulla Xenophontos,Barbera Veldhuisen,Jasper J. Saris,David Reynolds,Yiqiang Cai,Patricia A. Gabow,Alkis Pierides,William J. Kimberling,Martijn H. Breuning,Constantinos Deltas,Dorien J.M. Peters,Stefan Somlo +14 more
TL;DR: A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning and it has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD 1, and the family of voltage-activated calcium channels.
Journal ArticleDOI
Autosomal dominant polycystic kidney disease
TL;DR: An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation of its progression and systemic manifestations have laid out the foundation for the development of clinical trials and potentially effective treatments.