4.8 Article

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

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 Biochemical Research Methods

SFMetrics: an analysis tool for scanning force microscopy images of biomolecules

Humberto Sanchez et al.

BMC BIOINFORMATICS (2015)

Article Oncology

Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

Sarah L. Sawyer et al.

CANCER DISCOVERY (2015)

Article Genetics & Heredity

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

Martin Kircher et al.

NATURE GENETICS (2014)

Article Genetics & Heredity

Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

Massimo Bogliolo et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Review Multidisciplinary Sciences

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

Molly C. Kottemann et al.

NATURE (2013)

Article Multidisciplinary Sciences

A Protein Prioritization Approach Tailored for the FA/BRCA Pathway

Anneke Haitjema et al.

PLOS ONE (2013)

Article Cell Biology

Repair of Strand Breaks by Homologous Recombination

Maria Jasin et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)

Article Genetics & Heredity

RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans

Christel Depienne et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Hematology

Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis

Anneke B. Oostra et al.

ANEMIA (2012)

Editorial Material Multidisciplinary Sciences

METABOLISM Alcohol, DNA and disease

Hans Joenje

NATURE (2011)

Article Multidisciplinary Sciences

Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice

Frederic Langevin et al.

NATURE (2011)

Letter Biotechnology & Applied Microbiology

Integrative genomics viewer

James T. Robinson et al.

NATURE BIOTECHNOLOGY (2011)

Review Genetics & Heredity

Regulation of Homologous Recombination in Eukaryotes

Wolf-Dietrich Heyer et al.

ANNUAL REVIEW OF GENETICS, VOL 44 (2010)

Review Genetics & Heredity

Regulation of DNA strand exchange in homologous recombination

J. Thomas Holthausen et al.

DNA REPAIR (2010)

Article Multidisciplinary Sciences

A map of human genome variation from population-scale sequencing

David Altshuler et al.

NATURE (2010)

Article Genetics & Heredity

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

Fiona Vaz et al.

NATURE GENETICS (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

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 Multidisciplinary Sciences

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

Radoje Drmanac et al.

SCIENCE (2010)

Article Multidisciplinary Sciences

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Jared C. Roach et al.

SCIENCE (2010)

Article Biochemistry & Molecular Biology

Crystal Structure of an Archaeal Rad51 Homologue in Complex with a Metatungstate Inhibitor

Yang Li et al.

BIOCHEMISTRY (2009)

Article Biochemical Research Methods

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

Daniel C. Koboldt et al.

BIOINFORMATICS (2009)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Biotechnology & Applied Microbiology

Fanconi anemia and its diagnosis

Arleen D. Auerbach

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2009)

Article Biochemical Research Methods

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Article Biochemistry & Molecular Biology

Inter-subunit interactions that coordinate Rad51s activities

Arabela A. Grigorescu et al.

NUCLEIC ACIDS RESEARCH (2009)

Review Genetics & Heredity

The consequences of Rad51 overexpression for normal and tumor cells

Hannah L. Klein

DNA REPAIR (2008)

Article Genetics & Heredity

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2

Bing Xia et al.

NATURE GENETICS (2007)

Review Genetics & Heredity

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2

Blanche P. Alter et al.

JOURNAL OF MEDICAL GENETICS (2007)

Article Biochemistry & Molecular Biology

Asp302 determines potassium dependence of a RadA recombinase from Methanococcus voltae

Xinguo Qian et al.

JOURNAL OF MOLECULAR BIOLOGY (2006)

Article Biochemistry & Molecular Biology

Roles of the human Rad51 L1 and L2 loops in DNA binding

Yusuke Matsuo et al.

FEBS JOURNAL (2006)

Article Biochemistry & Molecular Biology

The Rad51/RadA N-terminal domain activates nucleoprotein filament ATPase activity

Vitold E. Galkin et al.

STRUCTURE (2006)

Article Biochemistry & Molecular Biology

Crystal structure of a Rad51 filament

AB Conway et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2004)

Article Multidisciplinary Sciences

Ca2+ activates human homologous recombination protein Rad51 by modulating its ATPase activity

DV Bugreev et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)

Review Hematology

Fanconi anaemia and leukaemia - clinical and molecular aspects

M Tischkowitz et al.

BRITISH JOURNAL OF HAEMATOLOGY (2004)

Article Biochemistry & Molecular Biology

Biochemical characterization of the human RAD51 protein - I. ATP hydrolysis

G Tombline et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2002)

Article Biochemistry & Molecular Biology

Tailed duplex DNA is the preferred substrate for Rad51 protein-mediated homologous pairing

AV Mazin et al.

EMBO JOURNAL (2000)