(Q38914739)

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Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease

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scholarly article

1 reference

Europe PubMed Central

7 September 2017

Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease (English)

1 reference

Europe PubMed Central

7 September 2017

0 references

autosomal dominant polycystic kidney disease

1 reference

based on heuristic

inferred from title

autosomal dominant polycystic kidney

1 reference

based on heuristic

inferred from title

Charity G Moore

19

1 reference

Europe PubMed Central

7 September 2017

Robert William Schrier

8

object named as

Robert W Schrier

1 reference

Europe PubMed Central

7 September 2017

author name string

Christina M Heyer

1

1 reference

Europe PubMed Central

7 September 2017

Jamie L Sundsbak

2

1 reference

Europe PubMed Central

7 September 2017

Kaleab Z Abebe

3

1 reference

Europe PubMed Central

7 September 2017

Arlene B Chapman

4

1 reference

Europe PubMed Central

7 September 2017

Vicente E Torres

5

1 reference

Europe PubMed Central

7 September 2017

Jared J Grantham

6

1 reference

Europe PubMed Central

7 September 2017

Kyongtae T Bae

7

1 reference

Europe PubMed Central

7 September 2017

Ronald D Perrone

9

1 reference

Europe PubMed Central

7 September 2017

William E Braun

10

1 reference

Europe PubMed Central

7 September 2017

Theodore I Steinman

11

1 reference

Europe PubMed Central

7 September 2017

Michal Mrug

12

1 reference

Europe PubMed Central

7 September 2017

Alan S L Yu

13

1 reference

Europe PubMed Central

7 September 2017

Godela Brosnahan

14

1 reference

Europe PubMed Central

7 September 2017

Katharina Hopp

15

1 reference

Europe PubMed Central

7 September 2017

Maria V Irazabal

16

1 reference

Europe PubMed Central

7 September 2017

William M Bennett

17

1 reference

Europe PubMed Central

7 September 2017

Michael F Flessner

18

1 reference

Europe PubMed Central

7 September 2017

Douglas Landsittel

20

1 reference

Europe PubMed Central

7 September 2017

Peter C Harris

21

1 reference

Europe PubMed Central

7 September 2017

HALT PKD and CRISP Investigators

22

1 reference

Europe PubMed Central

7 September 2017

publication date

28 January 2016

1 reference

Europe PubMed Central

7 September 2017

Journal of the American Society of Nephrology

1 reference

Europe PubMed Central

7 September 2017

27

1 reference

Europe PubMed Central

7 September 2017

2872-2884

1 reference

Europe PubMed Central

7 September 2017

9

1 reference

Europe PubMed Central

7 September 2017

The PROPKD Score: A New Algorithm to Predict Renal Survival 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=5004648

9 September 2017

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal 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=5004648

9 September 2017

Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

Blood pressure in early 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=5004648

9 September 2017

Angiotensin blockade in late 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=5004648

9 September 2017

Altered trafficking and stability of polycystins underlie polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

Liver involvement in early 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=5004648

9 September 2017

Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

Type of PKD1 mutation influences renal outcome in ADPKD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

Kidney volume and functional outcomes 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=5004648

9 September 2017

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

Why kidneys fail 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=5004648

9 September 2017

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

Molecular diagnostics for 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=5004648

9 September 2017

The HALT polycystic kidney disease trials: design and implementation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

A new equation to estimate glomerular filtration rate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

Polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

9 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=5004648

9 September 2017

Factors affecting the progression of renal disease 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=5004648

17 June 2018

Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

22 August 2018

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

22 August 2018

Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

22 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5004648

22 August 2018

Genotype-renal function correlation in type 2 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=5004648

22 August 2018

Autosomal dominant polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/26823553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/26823553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/26823553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/26823553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Volume progression in polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/26823553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/26823553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1681/ASN.2015050583

1 reference

Europe PubMed Central

7 September 2017

release_5fivgbtmhzagflplu2q6q4he3q

1 reference

https://api.fatcat.wiki/v0/release/5fivgbtmhzagflplu2q6q4he3q

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

7 September 2017

1 reference

Europe PubMed Central

7 September 2017

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