4.8 Article

Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia

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 Biochemistry & Molecular Biology

Quantitative Activity Profile and Context Dependence of All Human 5′ Splice Sites

Mandy S. Wong et al.

MOLECULAR CELL (2018)

Article Biochemical Research Methods

Machine learning annotation of human branchpoints

Bethany Signal et al.

BIOINFORMATICS (2018)

Article Education, Scientific Disciplines

Inherited hemolytic anemia: a possessive beginner's guide

Narla Mohandas

HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM (2018)

Review Genetics & Heredity

Deep intronic mutations and human disease

Rita Vaz-Drago et al.

HUMAN GENETICS (2017)

Review Hematology

RNA splicing during terminal erythropoiesis

John G. Conboy

CURRENT OPINION IN HEMATOLOGY (2017)

Review Medicine, Research & Experimental

RNA splicing in human disease and in the clinic

Diana Baralle et al.

CLINICAL SCIENCE (2017)

Review Genetics & Heredity

RNA mis-splicing in disease

Marina M. Scotti et al.

NATURE REVIEWS GENETICS (2016)

Review Biochemistry & Molecular Biology

Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine

Maximilian W. Popp et al.

Review Cell Biology

Defective control of pre-messenger RNA splicing in human disease

Benoit Chabot et al.

JOURNAL OF CELL BIOLOGY (2016)

Article Cell Biology

Nonsense-mediated mRNA decay in humans at a glance

Tatsuaki Kurosaki et al.

JOURNAL OF CELL SCIENCE (2016)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Article Biochemistry & Molecular Biology

A dynamic alternative splicing program regulates gene expression during terminal erythropoiesis

Harold Pimentel et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Multidisciplinary Sciences

Probing large conformational rearrangements in wild-type and mutant spectrin using structural mass spectrometry

Sira Sriswasdi et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Review Biotechnology & Applied Microbiology

Exon identity crisis: disease-causing mutations that disrupt the splicing code

Timothy Sterne-Weiler et al.

GENOME BIOLOGY (2014)

Article Pediatrics

Abnormalities of the Erythrocyte Membrane

Patrick G. Gallagher

PEDIATRIC CLINICS OF NORTH AMERICA (2013)

Review Cell Biology

Targeting RNA splicing for disease therapy

Mallory A. Havens et al.

WILEY INTERDISCIPLINARY REVIEWS-RNA (2013)

Review Biochemistry & Molecular Biology

Pre-mRNA splicing in disease and therapeutics

Ravi K. Singh et al.

TRENDS IN MOLECULAR MEDICINE (2012)

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Letter Biochemical Research Methods

MutationTaster evaluates disease-causing potential of sequence alterations

Jana Marie Schwarz et al.

NATURE METHODS (2010)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemistry & Molecular Biology

SROOGLE: webserver for integrative, user-friendly visualization of splicing signals

Schraga Schwartz et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Biochemical Research Methods

Use of minigene systems to dissect alternative splicing elements

TA Cooper

METHODS (2005)

Article Hematology

Coinheritance of two α-spectrin gene defects in a recessive spherocytosis family

D Dhermy et al.

CLINICAL AND LABORATORY HAEMATOLOGY (2000)