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

Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome

(2014) Junko Oshima et al.   GERONTOLOGY

Causes and consequences of replication stress

(2013) Michelle K. Zeman et al.   NATURE CELL BIOLOGY

Break-Induced Replication Repair of Damaged Forks Induces Genomic Duplications in Human Cells

(2013) Lorenzo Costantino et al.   SCIENCE

Role of p97/VCP (Cdc48) in genome stability

(2013) Bruno Vaz et al.   Frontiers in Genetics

Ethnic-specificWRNmutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry

(2013) Bidisha Saha et al.   Molecular Genetics & Genomic Medicine

Spartan/C1orf124 is important to prevent UV-induced mutagenesis

(2012) Yuka Machida et al.   CELL CYCLE

Proliferating Cell Nuclear Antigen (PCNA)-binding Protein C1orf124 Is a Regulator of Translesion Synthesis

(2012) Gargi Ghosal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Spartan/C1orf124, a Reader of PCNA Ubiquitylation and a Regulator of UV-Induced DNA Damage Response

(2012) Richard C. Centore et al.   MOLECULAR CELL

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

(2012) Weibin Zhou et al.   NATURE GENETICS

DVC1 (C1orf124) recruits the p97 protein segregase to sites of DNA damage

(2012) Emily J Davis et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

DVC1 (C1orf124) is a DNA damage–targeting p97 adaptor that promotes ubiquitin-dependent responses to replication blocks

(2012) Anna Mosbech et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Regulation of error-prone translesion synthesis by Spartan/C1orf124

(2012) Myoung Shin Kim et al.   NUCLEIC ACIDS RESEARCH

Characterization of human Spartan/C1orf124, an ubiquitin-PCNA interacting regulator of DNA damage tolerance

(2012) Szilvia Juhasz et al.   NUCLEIC ACIDS RESEARCH

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

(2011) Guntram Borck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

(2011) Xose S. Puente et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A

(2011) Fuki M. Hisama et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular markers for cancer prognosis and treatment: Have we struck gold?

(2011) Somaira Nowsheen et al.   CANCER LETTERS

Zebrafish mRNA sequencing deciphers novelties in transcriptome dynamics during maternal to zygotic transition

(2011) Håvard Aanes et al.   GENOME RESEARCH

53BP1 nuclear bodies form around DNA lesions generated by mitotic transmission of chromosomes under replication stress

(2011) Claudia Lukas et al.   NATURE CELL BIOLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Hepatocellular Carcinoma

(2011) Hashem B. El-Serag   NEW ENGLAND JOURNAL OF MEDICINE

The RecQ helicase WRN is required for normal replication fork progression after DNA damage or replication fork arrest

(2010) Julia M. Sidorova et al.   CELL CYCLE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Progeria syndromes and ageing: what is the connection?

(2010) Christopher R. Burtner et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Maintaining genome stability at the replication fork

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

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

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Generating linkage mapping files from Affymetrix SNP chip data

(2009) M. Bahlo et al.   BIOINFORMATICS

The epidemiology of hepatocellular cancer: from the perspectives of public health problem to tumor biology

(2009) Stephen Caldwell et al.   JOURNAL OF GASTROENTEROLOGY

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

(2009) R. Drmanac et al.   SCIENCE

HapCUT: an efficient and accurate algorithm for the haplotype assembly problem

(2008) V. Bansal et al.   BIOINFORMATICS

Essential function of Chk1 can be uncoupled from DNA damage checkpoint and replication control

(2008) D. Wilsker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA