(Q37087898)

18 August 2017

Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease (English)

1 reference

autosomal dominant polycystic kidney disease

18 August 2017

0 references

autosomal dominant polycystic kidney

1 reference

Andrew D Paterson

7

0 references

author name string

Kiarong Wang

1

1 reference

18 August 2017

Xiao Zhao

2

1 reference

18 August 2017

Shelly Chan

3

1 reference

18 August 2017

Onur Cil

4

1 reference

18 August 2017

Ning He

5

1 reference

18 August 2017

Xuewen Song

6

1 reference

18 August 2017

York Pei

8

1 reference

18 August 2017

21 January 2009

1 reference

Clinical Journal of the American Society of Nephrology

18 August 2017

1 reference

18 August 2017

4

1 reference

18 August 2017

2

1 reference

18 August 2017

442-449

1 reference

Splicing in disease: disruption of the splicing code and the decoding machinery

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Diagnostic approach in autosomal dominant polycystic kidney disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Molecular pathogenesis of ADPKD: the polycystin complex gets complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Intrinsic differences between authentic and cryptic 5' splice sites

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

ESEfinder: A web resource to identify exonic splicing enhancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Genetics and pathogenesis of polycystic kidney disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Prediction of complete gene structures in human genomic DNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Parametric and nonparametric linkage analysis: a unified multipoint approach

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Easy calculations of lod scores and genetic risks on small computers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Unified criteria for ultrasonographic diagnosis of ADPKD.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Improved splice site detection in Genie

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Comparative analysis detects dependencies among the 5' splice-site positions

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Avoiding recomputation in linkage analysis.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2637591

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

3 September 2018

1 reference

12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

12 December 2020

A complete mutation screen of the ADPKD genes by DHPLC

1 reference

12 December 2020

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.2215/CJN.00980208

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

19158373

1 reference