(Q42594856)

3 November 2017

title

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease (English)

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autosomal recessive polycystic kidney

3 November 2017

main subject

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author

Jan Senderek

5

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3 November 2017

Carsten Bergmann

1

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3 November 2017

Valeska Frank

2

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3 November 2017

Fabian Küpper

3

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3 November 2017

Christa Schmidt

4

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3 November 2017

Klaus Zerres

6

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3 November 2017

publication date

3 August 2006

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Journal of Human Genetics

3 November 2017

published in

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3 November 2017

volume

51

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3 November 2017

issue

9

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3 November 2017

page(s)

788-793

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

3 November 2017

cites work

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12 December 2020

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

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12 December 2020

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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12 December 2020

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene

1 reference

12 December 2020

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

1 reference

12 December 2020

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

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12 December 2020

Splicing in action: assessing disease causing sequence changes

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12 December 2020

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

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12 December 2020

Autosomal recessive polycystic kidney disease (ARPKD)

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12 December 2020

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mechanisms of alternative pre-messenger RNA splicing

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12 December 2020

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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12 December 2020

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

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12 December 2020

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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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

10.1007/S10038-006-0022-4

Identifiers

DOI

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3 November 2017

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