Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Carsten Bergmann,Jan Senderek,Ellen Windelen,Fabian Küpper,Iris Middeldorf,Frank Schneider,Christian Dornia,Sabine Rudnik-Schöneborn,Martin Konrad,Claus Peter Schmitt,Tomas Seeman,Thomas Neuhaus,Udo Vester,Jutta Kirfel,Reinhard Büttner,Klaus Zerres +15 more
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TLDR
This is the first study that reports the long-term outcome of ARPKD patients with defined PK HD1 mutations, indicating that PKHD1 mutation screening is a powerful diagnostic tool in patients suspected with AR PKD.About:
This article is published in Kidney International.The article was published on 2005-03-01 and is currently open access. It has received 269 citations till now. The article focuses on the topics: Autosomal recessive polycystic kidney disease (ARPKD) & Kidney disease.read more
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Journal ArticleDOI
Polycystic kidney disease.
Carsten Bergmann,Lisa M. Guay-Woodford,Peter C. Harris,Shigeo Horie,Dorien J.M. Peters,Vicente E. Torres +5 more
TL;DR: An overview of the current knowledge of PKD and its treatment can be found in this paper, where the authors provide an overview of existing knowledge about the pathogenesis and treatment of polycystic kidney disease.
Journal ArticleDOI
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?
TL;DR: Protein–protein interactions among cystoproteins, and their strong evolutionary conservation, provide a basis for a multidisciplinary approach to unravelling the novel signalling mechanisms that are involved in this disease group.
Journal ArticleDOI
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
Magdalena Adeva,Mounif El-Youssef,Sandro Rossetti,Patrick S. Kamath,Vickie J. Kubly,Mark B. Consugar,Dawn M. Milliner,Bernard F. King,Vicente E. Torres,Peter C. Harris +9 more
TL;DR: A broadened spectrum for the ARPKD phenotype is indicated and that later presenting cases with predominant liver disease should be considered part of AR PKD.
Journal ArticleDOI
Genotype–Phenotype Correlations in Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease
Sandro Rossetti,Peter C. Harris +1 more
TL;DR: Variance component analysis in ADPKD populations indicates that genetic modifiers are important, but few such factors (beyond co-inheritance of a TSC2 mutation) have been identified.
Journal ArticleDOI
Monogenic causes of chronic kidney disease in adults.
Dervla M. Connaughton,Dervla M. Connaughton,Dervla M. Connaughton,Claire Kennedy,Shirlee Shril,Nina Mann,Susan L. Murray,Patrick Williams,Patrick Williams,Eoin T. Conlon,Eoin T. Conlon,Makiko Nakayama,Amelie T. van der Ven,Hadas Ityel,Franziska Kause,Caroline M. Kolvenbach,Rufeng Dai,Asaf Vivante,Asaf Vivante,Daniela A. Braun,Ronen Schneider,Thomas M. Kitzler,Brona Moloney,Conor P. Moran,John Smyth,Alan Kennedy,Katherine A. Benson,Caragh P. Stapleton,Mark D. Denton,Colm Magee,Conall M. O'Seaghdha,William D. Plant,Matthew D. Griffin,Atif Awan,Clodagh Sweeney,Shrikant Mane,Richard P. Lifton,Richard P. Lifton,Brenda Griffin,Sean Leavey,Liam F. Casserly,Declan G. de Freitas,John Holian,Anthony Dorman,Anthony Dorman,Brendan Doyle,Peter Lavin,Mark A. Little,Peter J. Conlon,Peter J. Conlon,Friedhelm Hildebrandt +50 more
TL;DR: In this multi-centre study of adults with CKD, a molecular genetic diagnosis was established in over one-third of families and whole exome sequencing (WES) may be an important tool to identify the cause of CKD in adults.
References
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A Simple Estimate of Glomerular Filtration Rate in Children Derived From Body Length and Plasma Creatinine
TL;DR: Based on statistical analysis of data in 186 children, a formula was derived which allows accurate estimation of glomerular filtration rate (GFR) from plasma creatinine and body lenght and reveals excellent agreement with GFR estimated by the Ccr or Cin.
Journal ArticleDOI
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
Surya M. Nauli,Francis J. Alenghat,Ying Luo,Eric O. Williams,Peter M. Vassilev,Xiaogang Li,Andrew E. H. Elia,Weining Lu,Edward M. Brown,Stephen J. Quinn,Donald E. Ingber,Jing Zhou +11 more
TL;DR: PC1 and PC2 contribute to fluid-flow sensation by the primary cilium in renal epithelium and that they both function in the same mechanotransduction pathway, suggesting loss or dysfunction of PC1 or PC2 may lead to polycystic kidney disease.
Journal ArticleDOI
A genomic view of alternative splicing
Barmak Modrek,Christopher Lee +1 more
TL;DR: A community-based effort to discover and characterize alternative splice forms comprehensively throughout the human genome is recommended.
Journal ArticleDOI
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
TL;DR: Prenatal diagnosis by direct mutation detection permits prenatal treatment of affected females with severe, classic 21-hydroxylase deficiency to minimize genital virilization, reducing mortality from this condition.
Journal ArticleDOI
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
Christopher J. Ward,Marie C. Hogan,Sandro Rossetti,Denise L. Walker,Tam P. Sneddon,Xiaofang Wang,Vicky Kubly,Julie M. Cunningham,Robert L. Bacallao,Masahiko Ishibashi,Dawn S. Milliner,Vicente E. Torres,Peter C. Harris +12 more
TL;DR: Genetic analysis of a rat with recessive polycystic kidney disease revealed an orthologous relationship between the rat locus and the ARPKD region in humans; a candidate gene was identified.