Autosomal dominant polycystic kidney disease: Genetics, mutations and microRNAs (Q37851648)

24 August 2017

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title

Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs (English)

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24 August 2017

Autosomal dominant polycystic kidney disease: Genetics, mutations and microRNAs (English)

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

autosomal dominant polycystic kidney disease

26 November 2024

main subject

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microRNA

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based on heuristic

inferred from title

autosomal dominant polycystic kidney

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Ying-Cai Tan

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24 August 2017

Jon Blumenfeld

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24 August 2017

Hanna Rennert

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24 August 2017

language of work or name

English

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publication date

17 March 2011

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full work available at URL

24 August 2017

https://api.elsevier.com/content/article/PII:S0925443911000512?httpAccept=text/xml

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

https://api.elsevier.com/content/article/PII:S0925443911000512?httpAccept=text/plain

26 November 2024

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

Biochimica et Biophysica Acta

26 November 2024

published in

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24 August 2017

volume

1812

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24 August 2017

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24 August 2017

page(s)

1202-1212

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

24 August 2017

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Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus

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Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains

26 November 2024

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Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents

26 November 2024

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Domain mapping of the polycystin-2 C-terminal tail using de novo molecular modeling and biophysical analysis

26 November 2024

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

26 November 2024

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PKD1 interacts with PKD2 through a probable coiled-coil domain

26 November 2024

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Polycystin-1, STAT6, and P100 function in a pathway that transduces ciliary mechanosensation and is activated in polycystic kidney disease

26 November 2024

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

26 November 2024

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Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype

26 November 2024

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26 November 2024

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

26 November 2024

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

26 November 2024

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Molecular genetics and pathogenesis of autosomal dominant polycystic kidney disease

26 November 2024

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A "two-hit" model of cystogenesis in autosomal dominant polycystic kidney disease?

26 November 2024

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

26 November 2024

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

26 November 2024

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

26 November 2024

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26 November 2024

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

26 November 2024

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Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

26 November 2024

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Defining a link with autosomal-dominant polycystic kidney disease in mice with congenitally low expression of Pkd1

26 November 2024

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Overexpression of PKD1 causes polycystic kidney disease

26 November 2024

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26 November 2024

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26 November 2024

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A truncated polycystin-2 protein causes polycystic kidney disease and retinal degeneration in transgenic rats

26 November 2024

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

26 November 2024

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Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

26 November 2024

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

26 November 2024

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

26 November 2024

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

26 November 2024

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

26 November 2024

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

26 November 2024

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Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

26 November 2024

1 reference

https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

Anticipation of age at renal death in autosomal dominant polycystic kidney disease (ADPKD)?

26 November 2024

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

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

26 November 2024

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

Comparison between siblings and twins supports a role for modifier genes in ADPKD.

26 November 2024

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

Modifier genes play a significant role in the phenotypic expression of PKD1.

26 November 2024

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

Genetic variation of DKK3 may modify renal disease severity in ADPKD.

26 November 2024

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

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

26 November 2024

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PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney disease

26 November 2024

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Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

26 November 2024

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

26 November 2024

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

26 November 2024

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

26 November 2024

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DNA structural transitions within the PKD1 gene.

26 November 2024

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

Gene conversion is a likely cause of mutation in PKD1.

26 November 2024

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

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

26 November 2024

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1

26 November 2024

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The mouse homolog of PKD1: sequence analysis and alternative splicing

26 November 2024

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Tissue-specific expression and splicing of the rat polycystic kidney disease 1 gene

26 November 2024

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Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease

26 November 2024

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The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14

26 November 2024

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How microRNAs control cell division, differentiation and death

26 November 2024

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26 November 2024

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Most mammalian mRNAs are conserved targets of microRNAs

26 November 2024

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Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets

26 November 2024

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MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease

26 November 2024

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Rat models of autosomal dominant polycystic kidney disease

26 November 2024

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Microarray-based approach identifies microRNAs and their target functional patterns in polycystic kidney disease

26 November 2024

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Potential mRNA degradation targets of hsa-miR-200c, identified using informatics and qRT-PCR.

26 November 2024

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MicroRNA-17 post-transcriptionally regulates polycystic kidney disease-2 gene and promotes cell proliferation

26 November 2024

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The RNA-binding protein bicaudal C regulates polycystin 2 in the kidney by antagonizing miR-17 activity

26 November 2024

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Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes

26 November 2024

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Mutation screening of the PKD1 transcript by RT-PCR.

26 November 2024

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

26 November 2024

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Unified criteria for ultrasonographic diagnosis of ADPKD.

26 November 2024

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

26 November 2024

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Pretransplant genetic testing of live kidney donors at risk for autosomal dominant polycystic kidney disease

26 November 2024

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DNA testing for live kidney donors at risk for autosomal dominant polycystic kidney disease

26 November 2024

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Diagnostic approach in autosomal dominant polycystic kidney disease

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PGD for autosomal dominant polycystic kidney disease type 1

26 November 2024

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

26 November 2024

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Novel mutations in the duplicated region of PKD1 gene

26 November 2024

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

26 November 2024

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

26 November 2024

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A complete mutation screen of the ADPKD genes by DHPLC

26 November 2024

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26 November 2024

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26 November 2024

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26 November 2024

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

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

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Predicting deleterious amino acid substitutions

26 November 2024

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Accounting for human polymorphisms predicted to affect protein function

26 November 2024

107

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Prediction of deleterious human alleles

26 November 2024

108

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Human non-synonymous SNPs: server and survey

26 November 2024

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Improved Splice Site Detection in Genie

26 November 2024

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ESEfinder: A web resource to identify exonic splicing enhancers

26 November 2024

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

26 November 2024

112

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https://api.crossref.org/works/10.1016/J.BBADIS.2011.03.002

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

26 November 2024

113

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Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

26 November 2024

114

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Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

26 November 2024

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26 November 2024

Identifiers

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24 August 2017

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