Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease (Q90451238)

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14 April 2020

title

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease (English)

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autosomal dominant polycystic kidney disease

14 April 2020

main subject

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autosomal dominant polycystic kidney

inferred from title

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Adrian Y Tan

1

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14 April 2020

Tuo Zhang

2

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14 April 2020

Alber Michaeel

3

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14 April 2020

Jon Blumenfeld

4

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14 April 2020

Genyan Liu

5

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14 April 2020

Wanying Zhang

6

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14 April 2020

Zhengmao Zhang

7

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14 April 2020

Yi Zhu

8

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14 April 2020

Lior Rennert

9

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14 April 2020

Che Martin

10

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14 April 2020

Jenny Xiang

11

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14 April 2020

Steven P Salvatore

12

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14 April 2020

Brian D Robinson

13

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Sandip Kapur

14

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14 April 2020

Stephanie Donahue

15

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14 April 2020

Warren O Bobb

16

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14 April 2020

Hanna Rennert

17

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publication date

24 July 2018

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Journal of the American Society of Nephrology

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published in

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volume

29

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issue

8

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page(s)

2139-2156

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

14 April 2020

cites work

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Time to treat polycystic kidney diseases like the neoplastic disorders that they are

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12 December 2020

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

1 reference

12 December 2020

Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease

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12 December 2020

Molecular cytogenetic aberrations in autosomal dominant polycystic kidney disease tissue

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12 December 2020

Immortalized epithelial cells from human autosomal dominant polycystic kidney cysts

1 reference

12 December 2020

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

1 reference

12 December 2020

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

1 reference

12 December 2020

Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease

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12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

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12 December 2020

A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

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12 December 2020

Overexpression of PKD2 in the mouse is associated with renal tubulopathy

1 reference

12 December 2020

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

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12 December 2020

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

1 reference

12 December 2020

Molecular advances in autosomal dominant polycystic kidney disease

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12 December 2020

What is the role of somatic mutation in autosomal dominant polycystic kidney disease?

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12 December 2020

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

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12 December 2020

Polycystin-2 takes different routes to the somatic and ciliary plasma membrane

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12 December 2020

A missense mutation in PKD1 attenuates the severity of renal disease

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12 December 2020

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

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12 December 2020

A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene

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12 December 2020

Cancer genome landscapes

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12 December 2020

Mutational heterogeneity in cancer and the search for new cancer-associated genes

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12 December 2020

Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease

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12 December 2020

Signatures of mutational processes in human cancer

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12 December 2020

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing

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12 December 2020

A general framework for estimating the relative pathogenicity of human genetic variants

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12 December 2020

Polycystin-1: a master regulator of intersecting cystic pathways

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12 December 2020

Polycystic kidney disease and cancer after renal transplantation

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12 December 2020

Renal insufficiency is associated with an increased risk of papillary renal cell carcinoma histology

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12 December 2020

Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease

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12 December 2020

Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

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12 December 2020

The hallmarks of cancer: relevance to the pathogenesis of polycystic kidney disease

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12 December 2020

Papillary renal cell carcinoma with a somatic mutation in MET in a patient with autosomal dominant polycystic kidney disease.

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12 December 2020

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

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12 December 2020

Mutant TP53 disrupts age-related accumulation patterns of somatic mutations in multiple cancer types

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12 December 2020

Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care

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12 December 2020

Identifiers

DOI

10.1681/ASN.2017080878

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30042192%20AND%20SRC:MED&resulttype=core&format=json

14 April 2020

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14 April 2020

PubMed publication ID

30042192

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