Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. (Q30372462)

21 June 2017

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

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autosomal dominant polycystic kidney disease

21 June 2017

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autosomal dominant polycystic kidney

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Ying-Cai Tan

1

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21 June 2017

Jon D Blumenfeld

2

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21 June 2017

Raluca Anghel

3

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21 June 2017

Stephanie Donahue

4

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21 June 2017

Rimma Belenkaya

5

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21 June 2017

Marina Balina

6

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21 June 2017

Thomas Parker

7

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21 June 2017

Daniel Levine

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21 June 2017

Debra G B Leonard

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21 June 2017

Hanna Rennert

10

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21 June 2017

1 February 2009

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21 June 2017

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21 June 2017

30

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21 June 2017

2

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21 June 2017

264-273

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

21 June 2017

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https://api.crossref.org/works/10.1002%2FHUMU.20842

Large deletions in the polycystic kidney disease 1 (PKD1) gene

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Autosomal dominant polycystic kidney disease: time for a change?

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Mutations of the human polycystic kidney disease 2 (PKD2) gene

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Familial phenotype differences in PKD11.

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

A rapid and sensitive enzymatic method for epidermal growth factor receptor mutation screening

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Predicting deleterious amino acid substitutions

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Accounting for human polymorphisms predicted to affect protein function

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Autosomal Dominant Polycystic Kidney Disease Types 1 and 2: Assessment of US Sensitivity for Diagnosis

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Mutation detection using a novel plant endonuclease

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Molecular pathogenesis of ADPKD: the polycystin complex gets complex

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Novel mutations in the duplicated region of PKD1 gene

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

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https://api.crossref.org/works/10.1002%2FHUMU.20842

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/10.1002%2FHUMU.20842

7 January 2021

Primer-site SNPs mask mutations.

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Human non-synonymous SNPs: server and survey

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Variation in age at ESRD in autosomal dominant polycystic kidney disease

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Improved splice site detection in Genie

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

A complete mutation screen of the ADPKD genes by DHPLC

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Prediction of deleterious human alleles

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Earlier diagnosis of autosomal dominant polycystic kidney disease: importance of family history and implications for cardiovascular and renal complications

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Extrarenal manifestations of autosomal dominant polycystic kidney disease

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Treatment of polycystic liver disease: one size does not fit all.

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Gene conversion is a likely cause of mutation in PKD1.

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https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Limitations of Single-Strand Conformation Polymorphism Analysis As a High-Throughput Method for the Detection of EGFR Mutations in the Clinical Setting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20842

7 January 2021

Identifiers

DOI

10.1002/HUMU.20842

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21 June 2017

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