TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

Directional dominance on stature and cognition in diverse human populations

(2015) Peter K. Joshi et al.   NATURE

Proteomics reveals dynamic assembly of repair complexes during bypass of DNA cross-links

(2015) M. Raschle et al.   SCIENCE

Cdt2-mediated XPG degradation promotes gap-filling DNA synthesis in nucleotide excision repair

(2014) Chunhua Han et al.   CELL CYCLE

TRIP/NOPO E3 ubiquitin ligase promotes ubiquitylation of DNA polymerase  

(2014) H. A. Wallace et al.   DEVELOPMENT

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

(2014) Carol-Anne Martin et al.   NATURE GENETICS

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

(2014) Davor Lessel et al.   NATURE GENETICS

Mutations in WNT1 Cause Different Forms of Bone Fragility

(2013) Katharina Keupp et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

(2013) Jennie E. Murray et al.   HUMAN MUTATION

Regulation of DNA Damage Responses by Ubiquitin and SUMO

(2013) Stephen P. Jackson et al.   MOLECULAR CELL

Spindle orientation in mammalian cerebral cortical development

(2012) Madeline A Lancaster et al.   CURRENT OPINION IN NEUROBIOLOGY

Regulation of the specialized DNA polymerase eta: Revisiting the biological relevance of its PCNA- and ubiquitin-binding motifs

(2012) Emmanuelle Despras et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

TRAF-interacting protein (TRIP) negatively regulates IFN-β production and antiviral response by promoting proteasomal degradation of TANK-binding kinase 1

(2012) Meng Zhang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Regulation of DNA-End Resection by hnRNPU-like Proteins Promotes DNA Double-Strand Break Signaling and Repair

(2012) Sophie E. Polo et al.   MOLECULAR CELL

Prime, Repair, Restore: The Active Role of Chromatin in the DNA Damage Response

(2012) Gaston Soria et al.   MOLECULAR CELL

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

(2012) Tomoo Ogi et al.   PLoS Genetics

Mechanisms and pathways of growth failure in primordial dwarfism

(2011) A. Klingseisen et al.   GENES & DEVELOPMENT

Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice

(2011) Frédéric Langevin et al.   NATURE

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

(2011) Duane L Guernsey et al.   NATURE GENETICS

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Xeroderma pigmentosum

(2011) Alan R Lehmann et al.   Orphanet Journal of Rare Diseases

CtIP Mutations Cause Seckel and Jawad Syndromes

(2011) Per Qvist et al.   PLoS Genetics

The role of RPA2 phosphorylation in homologous recombination in response to replication arrest

(2010) Wei Shi et al.   CARCINOGENESIS

Primary immunodeficiencies associated with DNA-repair disorders

(2010) Mary A. Slatter et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

ATR/Chk1 pathway is essential for resumption of DNA synthesis and cell survival in UV-irradiated XP variant cells

(2010) Emmanuelle Despras et al.   HUMAN MOLECULAR GENETICS

The TRAF-Interacting Protein (TRIP) Is a Regulator of Keratinocyte Proliferation

(2010) Stéphanie Almeida et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Regulation of Translesion Synthesis DNA Polymerase η by Monoubiquitination

(2010) Marzena Bienko et al.   MOLECULAR CELL

The DNA Damage Response: Making It Safe to Play with Knives

(2010) Alberto Ciccia et al.   MOLECULAR CELL

Maintaining genome stability at the replication fork

(2010) Dana Branzei et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Protein Phosphatase 2A-Dependent Dephosphorylation of Replication Protein A Is Required for the Repair of DNA Breaks Induced by Replication Stress

(2009) J. Feng et al.   MOLECULAR AND CELLULAR BIOLOGY

The DNA-damage response in human biology and disease

(2009) Stephen P. Jackson et al.   NATURE

A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging

(2009) Matilde Murga et al.   NATURE GENETICS

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PP4 is a γH2AX phosphatase required for recovery from the DNA damage checkpoint

(2008) Shinichiro Nakada et al.   EMBO REPORTS

A PP4-Phosphatase Complex Dephosphorylates γ-H2AX Generated during DNA Replication

(2008) Dipanjan Chowdhury et al.   MOLECULAR CELL

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE