(Q37362422)

English

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis

scientific article published on January 1997

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

0 references

0 references

polycystic kidney disease

1 reference

based on heuristic

inferred from title

author name string

J L Brasier

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

E P Henske

2

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

language of work or name

0 references

publication date

1 January 1997

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

99

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

194-199

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

The incidence of simple renal cyst by computed tomography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

Epithelial hyperplasia in human polycystic kidney diseases. Its role in pathogenesis and risk of neoplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

Polycystic kidney disease: neoplasia in disguise

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

A genetic model for colorectal tumorigenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

6 September 2017

Clinical implications of the p53 tumor-suppressor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

28 September 2017

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

26 June 2018

Aberrant epithelial cell growth in autosomal dominant polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

26 June 2018

Multilocus polycystic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

26 June 2018

Accumulation of nuclear p53 and tumor progression in bladder cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507786

2 September 2018

Cyst-derived cells do not exhibit accelerated growth or features of transformed cells in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/9005987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal involvement in tuberous sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9005987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumor suppressor genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9005987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

https://pubmed.ncbi.nlm.nih.gov/9005987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9005987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A PCR-Based Genetic Linkage Map of Human Chromosome 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/9005987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9005987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family

1 reference

https://pubmed.ncbi.nlm.nih.gov/9005987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic alterations and instabilities in renal cell carcinomas and their relationship to tumor pathology

1 reference

https://pubmed.ncbi.nlm.nih.gov/9005987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mutations are frequent and increase with age in human kidney epithelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/9005987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cyst formation and growth in autosomal dominant polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9005987

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI119147

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

0 references

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