(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)

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

0 references

2

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

Belén Peral

6

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

author name string

Rossetti S

1

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

Gamble V

3

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

Burton S

4

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

Sneddon V

5

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

Roy S

7

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

Bakkaloglu A

8

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

Komel R

9

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

Winearls CG

10

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

Harris PC

11

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

language of work or name

English

0 references

publication date

12 December 2000

1 reference

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

American Journal of Human Genetics

2 November 2019

published in

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

volume

68

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

page(s)

46-63

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

issue

1

1 reference

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

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

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Polycystin 1 is required for the structural integrity of blood vessels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Polycystin-L is a calcium-regulated cation channel permeable to calcium ions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

DNA structural transitions within the PKD1 gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

A perfect message: RNA surveillance and nonsense-mediated decay

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Gene conversion is a likely cause of mutation in PKD1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Mutation detection in the repeated part of the PKD1 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Identification and localization of polycystin, the PKD1 gene product

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

The leucine-rich repeat: a versatile binding motif

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

The 1993-94 Généthon human genetic linkage map

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

Locus assignment of human alpha globin mutations by selective amplification and direct sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234934

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

28 October 2018

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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