Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications (Q34043790)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11115377%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications (English)

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2 November 2019

0 references

2

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2 November 2019

Belén Peral

6

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2 November 2019

author name string

Rossetti S

1

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2 November 2019

Gamble V

3

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2 November 2019

Burton S

4

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2 November 2019

Sneddon V

5

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2 November 2019

Roy S

7

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2 November 2019

Bakkaloglu A

8

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2 November 2019

Komel R

9

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2 November 2019

Winearls CG

10

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2 November 2019

Harris PC

11

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2 November 2019

language of work or name

English

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publication date

12 December 2000

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American Journal of Human Genetics

2 November 2019

published in

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2 November 2019

volume

68

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2 November 2019

issue

1

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2 November 2019

page(s)

46-63

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Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families

2 November 2019

cites work

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5 July 2018

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Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins

5 July 2018

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5 July 2018

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A latrophilin/CL-1-like GPS domain in polycystin-1

5 July 2018

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A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

5 July 2018

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DNA structural transitions within the PKD1 gene.

5 July 2018

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Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

5 July 2018

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RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

5 July 2018

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A perfect message: RNA surveillance and nonsense-mediated decay

5 July 2018

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Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group

5 July 2018

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Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein

5 July 2018

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Long RT-PCR Amplification of the entire coding sequence of the polycystic kidney disease 1 (PKD1) gene.

5 July 2018

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Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.

5 July 2018

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A 2.5 kb polypyrimidine tract in the PKD1 gene contains at least 23 H-DNA-forming sequences.

5 July 2018

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Gene conversion is a likely cause of mutation in PKD1.

5 July 2018

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Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

5 July 2018

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Mutation detection in the repeated part of the PKD1 gene

5 July 2018

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Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

5 July 2018

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A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)

5 July 2018

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Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains

5 July 2018

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Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

5 July 2018

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5 July 2018

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Identification and localization of polycystin, the PKD1 gene product

5 July 2018

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5 July 2018

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A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

5 July 2018

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The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1.

5 July 2018

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PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

5 July 2018

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Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney

5 July 2018

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Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair

5 July 2018

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Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations

5 July 2018

1 reference

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Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

5 July 2018

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Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1.

5 July 2018

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The leucine-rich repeat: a versatile binding motif

5 July 2018

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The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

5 July 2018

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The 1993-94 Généthon human genetic linkage map

5 July 2018

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Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries

5 July 2018

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5 July 2018

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Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

5 July 2018

1 reference

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High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

28 October 2018

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Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

28 October 2018

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The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

28 October 2018

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The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

28 October 2018

1 reference

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Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease

28 October 2018

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12 December 2020

Segregation analysis of autosomal dominant polycystic kidney disease

1 reference

12 December 2020

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

1 reference

12 December 2020

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

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12 December 2020

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

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12 December 2020

On the distributions of frequencies of mutation to genes determining harmful traits in man

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12 December 2020

Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene

1 reference

12 December 2020

Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

12 December 2020

DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients

1 reference

12 December 2020

Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease

1 reference

12 December 2020

The human gene mutation database

1 reference

12 December 2020

The PKD1 gene product, "polycystin-1," is a tyrosine-phosphorylated protein that colocalizes with alpha2beta1-integrin in focal clusters in adherent renal epithelia

1 reference

12 December 2020

Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue

1 reference

12 December 2020

Introduction of a myc reporter tag to improve the quality of mutation detection using the protein truncation test

1 reference

12 December 2020

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion

1 reference

12 December 2020

Thirteen novel mutations of the replicated region of PKD1 in an Asian population

1 reference

12 December 2020

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

1 reference

12 December 2020

Identifiers

DOI

10.1086/316939

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11115377%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11115377%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference