4.4 Article

Identification of novel single-nucleotide variants altering RNA splicing of PKD1 and PKD2

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing

Karthik A. Jagadeesh et al.

NATURE GENETICS (2019)

Article Biochemistry & Molecular Biology

Predicting Splicing from Primary Sequence with Deep Learning

Kishore Jaganathan et al.

Review Urology & Nephrology

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases

Emilie Cornec-Le Gall et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2018)

Review Biotechnology & Applied Microbiology

Splicing mutations in human genetic disorders: examples, detection, and confirmation

Anna Abramowicz et al.

JOURNAL OF APPLIED GENETICS (2018)

Article Medicine, General & Internal

Polycystic kidney disease

Carsten Bergmann et al.

NATURE REVIEWS DISEASE PRIMERS (2018)

Article Biochemistry & Molecular Biology

Extracellular Loops Are Essential for the Assembly and Function of Polycystin Receptor-Ion Channel Complexes

Zahra Salehi-Najafabadi et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2017)

Review Cell Biology

Mechanistic insights into precursor messenger RNA splicing by the spliceosome

Yigong Shi

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)

Article Multidisciplinary Sciences

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

Kaoru Ito et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Article Urology & Nephrology

Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016

Fouad T. Chebib et al.

AMERICAN JOURNAL OF KIDNEY DISEASES (2016)

Article Biochemistry & Molecular Biology

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

Amali C. Mallawaarachchi et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Review Urology & Nephrology

A polycystin-centric view of cyst formation and disease: the polycystins revisited

Albert C. M. Ong et al.

KIDNEY INTERNATIONAL (2015)

Review Urology & Nephrology

Vasopressin and disruption of calcium signalling in polycystic kidney disease

Fouad T. Chebib et al.

NATURE REVIEWS NEPHROLOGY (2015)

Review Genetics & Heredity

In silico tools for splicing defect prediction: a survey from the viewpoint of end users

Xueqiu Jian et al.

GENETICS IN MEDICINE (2014)

Article Genetics & Heredity

Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

Virginie Kergourlay et al.

HUMAN MUTATION (2014)

Article Biochemistry & Molecular Biology

In silico prediction of splice-altering single nucleotide variants in the human genome

Xueqiu Jian et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Genetics & Heredity

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing

Daniel Trujillano et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2014)

Article Urology & Nephrology

Type of PKD1 Mutation Influences Renal Outcome in ADPKD

Emilie Cornec-Le Gall et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)

Review Biochemistry & Molecular Biology

Pre-mRNA splicing in disease and therapeutics

Ravi K. Singh et al.

TRENDS IN MOLECULAR MEDICINE (2012)

Article Endocrinology & Metabolism

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

Oystein L. Holla et al.

MOLECULAR GENETICS AND METABOLISM (2009)

Article Biochemistry & Molecular Biology

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

Francois-Olivier Desmet et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Multidisciplinary Sciences

Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure

Shengqiang Yu et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Review Medicine, General & Internal

Autosomal dominant polycystic kidney disease

Vicente E. Torres et al.

LANCET (2007)

Review Genetics & Heredity

Splicing in action: assessing disease causing sequence changes

D Baralle et al.

JOURNAL OF MEDICAL GENETICS (2005)

Article Biochemical Research Methods

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

G Yeo et al.

JOURNAL OF COMPUTATIONAL BIOLOGY (2004)

Article Biochemistry & Molecular Biology

ESEfinder: a web resource to identify exonic splicing enhancers

L Cartegni et al.

NUCLEIC ACIDS RESEARCH (2003)

Article Biochemistry & Molecular Biology

The polycystin-1 C-type lectin domain binds carbohydrate in a calcium-dependent manner, and interacts with extracellular matrix proteins in vitro

BS Weston et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2001)

Article Biochemistry & Molecular Biology

Analysis of canonical and non-canonical splice sites in mammalian genomes

M Burset et al.

NUCLEIC ACIDS RESEARCH (2000)