Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

A role for cdk9-cyclin k in maintaining genome integrity

(2011) David S. Yu et al.   CELL CYCLE

The HARP domain dictates the annealing helicase activity of HARP/SMARCAL1

(2011) Gargi Ghosal et al.   EMBO REPORTS

55K isoform of CDK9 associates with Ku70 and is involved in DNA repair

(2010) Hongbing Liu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Variability in gene expression underlies incomplete penetrance

(2010) Arjun Raj et al.   NATURE

Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin

(2010) Ryan D Morin et al.   NATURE GENETICS

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

(2010) S. Seo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Methylated H3K4, a Transcription-Associated Histone Modification, Is Involved in the DNA Damage Response Pathway

(2010) David Faucher et al.   PLoS Genetics

The annealing helicase HARP protects stalled replication forks

(2009) J. Yuan et al.   GENES & DEVELOPMENT

The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart

(2009) A. Ciccia et al.   GENES & DEVELOPMENT

The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks

(2009) C. E. Bansbach et al.   GENES & DEVELOPMENT

The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA

(2009) T. Yusufzai et al.   GENES & DEVELOPMENT

Identification of SMARCAL1 as a Component of the DNA Damage Response

(2009) Lisa Postow et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

(2009) C Thauvin-Robinet et al.   JOURNAL OF MEDICAL GENETICS

Neurologic Phenotype of Schimke Immuno-Osseous Dysplasia and Neurodevelopmental Expression of SMARCAL1

(2009) Kimiko Deguchi et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution

(2009) Sohrab P. Shah et al.   NATURE

Genetic mechanisms and modifying factors in hereditary hemochromatosis

(2009) Günter Weiss   Nature Reviews Gastroenterology & Hepatology

Mutation ofFOXL2in Granulosa-Cell Tumors of the Ovary

(2009) Sohrab P. Shah et al.   NEW ENGLAND JOURNAL OF MEDICINE

Schimke Immuno-Osseous Dysplasia: Expression of SMARCAL1 in Blood and Kidney Provides Novel Insight Into Disease Phenotype

(2009) Benjamin Dekel et al.   PEDIATRIC RESEARCH

NELF-mediated stalling of Pol II can enhance gene expression by blocking promoter-proximal nucleosome assembly

(2008) D. A. Gilchrist et al.   GENES & DEVELOPMENT

The functional response of upstream DNA to dynamic supercoiling in vivo

(2008) Fedor Kouzine et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A RECQ5-RNA polymerase II association identified by targeted proteomic analysis of human chromatin

(2008) O. Aygun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

HARP Is an ATP-Driven Annealing Helicase

(2008) T. Yusufzai et al.   SCIENCE