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

1 August 2017

1 reference

title

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

1 reference

autosomal recessive polycystic kidney

1 August 2017

0 references

Jan Senderek

5

0 references

author name string

Carsten Bergmann

1

1 reference

1 August 2017

Fabian Küpper

2

1 reference

1 August 2017

Christian Dornia

3

1 reference

1 August 2017

Frank Schneider

4

1 reference

1 August 2017

Klaus Zerres

6

1 reference

1 August 2017

1 March 2005

1 reference

1 August 2017

1 reference

1 August 2017

25

1 reference

1 August 2017

3

1 reference

1 August 2017

225-231

1 reference

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

1 August 2017

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

1 reference

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Autosomal recessive polycystic kidney disease

1 reference

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

1 reference

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

7 January 2021

Cystic kidney diseases: all roads lead to the cilium

1 reference

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

7 January 2021

Identifiers

DOI

10.1002/HUMU.20145

1 reference

1 August 2017

1 reference