The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein (Q24292750)

GOA release 2020-03-11

homeostatic process

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GOA release 2020-03-11

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Julie M Cunningham

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author name string

Christopher J Ward

1

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Marie C Hogan

2

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Sandro Rossetti

3

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Denise Walker

4

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Tam Sneddon

5

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Xiaofang Wang

6

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Vicky Kubly

7

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Robert Bacallao

9

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Masahiko Ishibashi

10

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Dawn S Milliner

11

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Vicente E Torres

12

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Peter C Harris

Autosomal recessive polycystic kidney disease

13

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language of work or name

English

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publication date

March 2002

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published in

Nature Genetics

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volume

30

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issue

3

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page(s)

259-69

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cites work

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Autosomal recessive polycystic kidney disease

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Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data

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Polycystic disease of kidney and liver presenting in childhood

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Polycystic kidney disease in the first year of life

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Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie

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Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation"

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Polycystic kidney disease: primary extracellular matrix abnormality or defective cellular differentiation?

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Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family

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Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.

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Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen

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An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region

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Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.

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A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6

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Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene

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Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease

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Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

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The pck rat: a new model that resembles human autosomal dominant polycystic kidney and liver disease

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Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis

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An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

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A complete mutation screen of the ADPKD genes by DHPLC

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Denaturing high-performance liquid chromatography: A review

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Glomerular epithelial, mesangial, and endothelial cell lines from transgenic mice

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Domains in plexins: links to integrins and transcription factors

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Sequence of MET protooncogene cDNA has features characteristic of the tyrosine kinase family of growth-factor receptors

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Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates

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Identification of the ron gene product as the receptor for the human macrophage stimulating protein

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Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2

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Protein kinase phosphorylation site sequences and consensus specificity motifs: tabulations

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Autosomal recessive polycystic kidney disease: long-term sonographic findings in patients surviving the neonatal period

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Polycystic kidney disease of perinatal type

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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Computational inference of homologous gene structures in the human genome

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Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker

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Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites

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Topology prediction for helical transmembrane proteins at 86% accuracy

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