4.7 Article

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia

Asuka Hira et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Review Hematology

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

Galina Glousker et al.

BRITISH JOURNAL OF HAEMATOLOGY (2015)

Editorial Material Biochemistry & Molecular Biology

SnapShot: Fanconi Anemia and Associated Proteins

Anderson T. Wang et al.

Article Biochemistry & Molecular Biology

AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia

Elizabeth L. Virts et al.

HUMAN MOLECULAR GENETICS (2015)

Article Multidisciplinary Sciences

Exit from dormancy provokes DNA-damage-induced attrition in haematopoietic stem cells

Dagmar Walter et al.

NATURE (2015)

Article Genetics & Heredity

ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function

Hemanth Tummala et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Review Hematology

Marrow failure: a window into ribosome biology

Davide Ruggero et al.

BLOOD (2014)

Article Genetics & Heredity

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

Jennie E. Murray et al.

HUMAN MUTATION (2014)

Article Genetics & Heredity

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

Martin Kircher et al.

NATURE GENETICS (2014)

Review Biochemistry & Molecular Biology

Mechanisms of Programmed DNA Lesions and Genomic Instability in the Immune System

Frederick W. Alt et al.

Article Biochemistry & Molecular Biology

Human RTEL1 deficiency causes HoyeraalHreidarsson syndrome with short telomeres and genome instability

Tangui Le Guen et al.

HUMAN MOLECULAR GENETICS (2013)

Review Biotechnology & Applied Microbiology

Disease-causing missense mutations in human DNA helicase disorders

Avvaru N. Suhasini et al.

MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (2013)

Article Multidisciplinary Sciences

53BP1 is a reader of the DNA-damage-induced H2A Lys 15 ubiquitin mark

Amelie Fradet-Turcotte et al.

NATURE (2013)

Article Biochemical Research Methods

Genome engineering using the CRISPR-Cas9 system

F. Ann Ran et al.

NATURE PROTOCOLS (2013)

Article Biochemistry & Molecular Biology

Acetylation limits 53BP1 association with damaged chromatin to promote homologous recombination

Jiangbo Tang et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2013)

Article Biochemistry & Molecular Biology

RNF8-and RNF168-dependent degradation of KDM4A/JMJD2A triggers 53BP1 recruitment to DNA damage sites

Frederick A. Mallette et al.

EMBO JOURNAL (2012)

Article Allergy

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita

Fabien Touzot et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2012)

Article Biochemistry & Molecular Biology

PHF20 is an effector protein of p53 double lysine methylation that stabilizes and activates p53

Gaofeng Cui et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2012)

Review Biochemistry & Molecular Biology

Functions of the Snf2/Swi2 family Rad54 motor protein in homologous recombination

Shannon J. Ceballos et al.

BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS (2011)

Article Biochemistry & Molecular Biology

Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins

Konstantinos Tripsianes et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2011)

Article Biochemistry & Molecular Biology

Repression of Retroelements in Drosophila Germline via piRNA Pathway by the Tudor Domain Protein Tejas

Veena S. Patil et al.

CURRENT BIOLOGY (2010)

Article Multidisciplinary Sciences

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

Fabien Touzot et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Review Genetics & Heredity

How the Fanconi Anemia Pathway Guards the Genome

George-Lucian Moldovan et al.

ANNUAL REVIEW OF GENETICS (2009)

Article Hematology

Diagnosis of Fanconi anemia in patients with bone marrow failure

Fernando O. Pinto et al.

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2009)

Review Biotechnology & Applied Microbiology

Mouse models of Fanconi anemia

Kalindi Parmar et al.

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

Article Biotechnology & Applied Microbiology

Fanconi anemia and its diagnosis

Arleen D. Auerbach

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

Review Hematology

Inherited aplastic anaemias/bone marrow failure syndromes

Inderjeet Dokal et al.

BLOOD REVIEWS (2008)

Article Biochemistry & Molecular Biology

Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair

Agata Smogorzewska et al.

Article Biochemistry & Molecular Biology

The HHpred interactive server for protein homology detection and structure prediction

J Söding et al.

NUCLEIC ACIDS RESEARCH (2005)

Article Biochemistry & Molecular Biology

Structure of the SWI2/SNF2 chromatin-remodeling domain of eukaryotic Rad54

NH Thomä et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2005)

Article Biochemistry & Molecular Biology

The tudor tandem of 53BP1:: A new structural motif involved in DNA and RG-rich peptide binding

G Charier et al.

STRUCTURE (2004)

Review Biochemistry & Molecular Biology

Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints

A Sancar et al.

ANNUAL REVIEW OF BIOCHEMISTRY (2004)

Review Immunology

The mechanisms of immune diversification and their disorders

JP de Villartay et al.

NATURE REVIEWS IMMUNOLOGY (2003)

Review Oncology

RecQ helicases: Caretakers of the genome

ID Hickson

NATURE REVIEWS CANCER (2003)

Article Biochemistry & Molecular Biology

Interaction of the fanconi anemia proteins and BRCA1 in a common pathway

I Garcia-Higuera et al.

MOLECULAR CELL (2001)