(Q36158405)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Miguel A Garcia-Gonzalez

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Jeffrey G Jones

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Susan K Allen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Christopher M Palatucci

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Sat D Batish

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

William K Seltzer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Zheng Lan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Erica Allen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Feng Qian

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Xose M Lens

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

York Pei

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Terry J Watnick

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

18 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

1 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

160-167

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

1 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Novel mutations in the duplicated region of PKD1 gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Molecular basis of autosomal dominant polycystic kidney disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Information analysis of human splice site mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Gene conversion is a likely cause of mutation in PKD1.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Improved splice site detection in Genie

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Automated splicing mutation analysis by information theory.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Mutation screening of the PKD1 transcript by RT-PCR.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Understanding human disease mutations through the use of interspecific genetic variation

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Loss of Polycystin-1 in Human Cyst-Lining Epithelia Leads to Ciliary Dysfunction

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085355

Autosomal dominant polycystic kidney disease

5 December 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

Therapies to slow polycystic kidney disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

Volume progression in polycystic kidney disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

Therapeutic approaches in autosomal dominant polycystic kidney disease (ADPKD): is there light at the end of the tunnel?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

A complete mutation screen of the ADPKD genes by DHPLC

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.05.004

Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes

7 January 2021

1 reference

12 December 2020

Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples

1 reference

12 December 2020

[Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph]

1 reference

12 December 2020

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

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

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease

1 reference

12 December 2020

10.1016/J.YMGME.2007.05.004

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17574468%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference