(Q44009665)

28 November 2017

title

Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease (English)

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autosomal dominant polycystic kidney disease

28 November 2017

main subject

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autosomal dominant polycystic kidney

inferred from title

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Ming-Yang Chang

1

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28 November 2017

Hsiao-Mang Chen

2

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28 November 2017

Chang-Chyi Jenq

3

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28 November 2017

Shen-Yang Lee

4

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28 November 2017

Yu-Ming Chen

5

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28 November 2017

Ya-Chung Tian

6

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28 November 2017

Yung-Chang Chen

7

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28 November 2017

Cheng-Chieh Hung

8

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28 November 2017

Ji-Tseng Fang

9

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28 November 2017

Chih-Wei Yang

10

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28 November 2017

Yah-Huei Wu-Chou

11

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28 November 2017

publication date

29 August 2013

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Journal of Human Genetics

28 November 2017

published in

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28 November 2017

volume

58

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28 November 2017

issue

11

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28 November 2017

page(s)

720-727

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A case for water in the treatment of polycystic kidney disease.

28 November 2017

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1 reference

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Polycystin-1 C-terminal cleavage is modulated by polycystin-2 expression

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Protein phosphatase-1α interacts with and dephosphorylates polycystin-1

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Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

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Aberrant regulation of planar cell polarity in polycystic kidney disease

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Homophilic and heterophilic polycystin 1 interactions regulate E-cadherin recruitment and junction assembly in MDCK cells

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Polycystins, focal adhesions and extracellular matrix interactions

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Family history of renal disease severity predicts the mutated gene in ADPKD.

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Type of PKD1 mutation influences renal outcome in ADPKD.

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

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

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Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

21 January 2018

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A missense mutation in PKD1 attenuates the severity of renal disease

21 January 2018

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Autosomal dominant polycystic kidney disease: the last 3 years

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Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease

21 January 2018

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Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic

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

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Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease

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21 January 2018

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

21 January 2018

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Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains

21 January 2018

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Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease

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21 January 2018

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FJHG.2013.91

7 January 2021

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

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https://api.crossref.org/works/10.1038%2FJHG.2013.91

7 January 2021

Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese

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https://api.crossref.org/works/10.1038%2FJHG.2013.91

7 January 2021

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https://api.crossref.org/works/10.1038%2FJHG.2013.91

7 January 2021

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for aPKD2missense mutation due to uniparental disomy

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https://api.crossref.org/works/10.1038%2FJHG.2013.91

7 January 2021

Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease

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https://api.crossref.org/works/10.1038%2FJHG.2013.91

7 January 2021

PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning

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https://api.crossref.org/works/10.1038%2FJHG.2013.91

7 January 2021

Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE

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https://api.crossref.org/works/10.1038%2FJHG.2013.91

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FJHG.2013.91

7 January 2021

Identifiers

DOI

10.1038/JHG.2013.91

1 reference

Dimensions Publication ID

28 November 2017

1032359914

0 references

1 reference