Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). (Q34393436)

1 August 2017

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title

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). (English)

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autosomal recessive polycystic kidney

1 August 2017

main subject

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Jan Senderek

5

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author name string

Carsten Bergmann

1

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1 August 2017

Fabian Küpper

2

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1 August 2017

Christian Dornia

3

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1 August 2017

Frank Schneider

4

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1 August 2017

Klaus Zerres

6

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1 August 2017

publication date

1 March 2005

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1 August 2017

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1 August 2017

volume

25

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1 August 2017

issue

3

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1 August 2017

page(s)

225-231

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Analysis of chromosome 6p in Spanish families with recessive polycystic kidney disease

1 August 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20145

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Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

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PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

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PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

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https://api.crossref.org/works/10.1002%2FHUMU.20145

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Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

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Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

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https://api.crossref.org/works/10.1002%2FHUMU.20145

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Autosomal Recessive Polycystic Kidney Disease: The Clinical Experience in North America

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Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat.

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https://api.crossref.org/works/10.1002%2FHUMU.20145

7 January 2021

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

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https://api.crossref.org/works/10.1002%2FHUMU.20145

7 January 2021

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

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Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

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https://api.crossref.org/works/10.1002%2FHUMU.20145

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PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

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https://api.crossref.org/works/10.1002%2FHUMU.20145

7 January 2021

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

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7 January 2021

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

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7 January 2021

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

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7 January 2021

The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area

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https://api.crossref.org/works/10.1002%2FHUMU.20145

7 January 2021

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

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7 January 2021

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

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7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20145

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

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7 January 2021

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

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7 January 2021

Autosomal recessive polycystic kidney disease

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https://api.crossref.org/works/10.1002%2FHUMU.20145

7 January 2021

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20145

7 January 2021

PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells

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7 January 2021

Cystic kidney diseases: all roads lead to the cilium

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20145

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1 August 2017

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