(Q52841273)

8 May 2018

title

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

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8 May 2018

autosomal recessive polycystic kidney

main subject

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author name string

Monique Losekoot

1

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8 May 2018

Cathleen Haarloo

2

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8 May 2018

Claudia Ruivenkamp

3

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8 May 2018

Stefan J White

4

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8 May 2018

Martijn H Breuning

5

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8 May 2018

Dorien J M Peters

6

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8 May 2018

publication date

15 November 2005

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8 May 2018

published in

Human Genetics

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8 May 2018

volume

118

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8 May 2018

issue

2

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8 May 2018

page(s)

185-206

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8 May 2018

https://scigraph.springernature.com/pub.10.1007/s00439-005-0027-7

exact match

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cites work

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12 December 2020

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

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

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

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Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.

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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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Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

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

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12 December 2020

The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.

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A simple salting out procedure for extracting DNA from human nucleated cells

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

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Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease

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Improved splice site detection in Genie

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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12 December 2020

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

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

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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

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

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12 December 2020

Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells

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

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Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease

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Mutations in SEC63 cause autosomal dominant polycystic liver disease

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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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Neural network detects errors in the assignment of mRNA splice sites

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

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

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A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease

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

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

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Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease

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

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Amino acid difference formula to help explain protein evolution

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12 December 2020

10.1007/S00439-005-0027-7

Identifiers

DOI

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8 May 2018

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8 May 2018