Severe combined immunodeficiencies (SCIDs) comprise a group of rare, monogenic
diseases that are characterized by an early onset and a profound block in the development …

Mounting evidence suggests that DNA damage plays a central role in aging. Multiple tiers of
defense have evolved to reduce the accumulation of DNA damage, including reducing …

PRIMPOL repriming allows DNA replication to skip DNA lesions, leading to ssDNA gaps.
These gaps must be filled to preserve genome stability. Using a DNA fiber approach to …

SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin,
subfamily A-like1) maintains genome integrity during DNA replication. Here we investigated …

Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive
pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal …

The cerebrovascular disorder moyamoya disease (MMD) was first described in 1957 in
Japan, and is typically considered to be an Asian-specific disease. However, it is globally …

Background. The rate of complete remission after induction therapy for steroid-resistant
nephrotic syndrome (SRNS) due to either focal segmental glomerulosclerosis (FSGS) or …

Proteins with annealing activity are newly identified ATP-dependent motors that can rewind
RPA-coated complementary single-stranded DNA bubbles. AH2 (annealing helicase 2, also …

Mutations in HepA-related protein (HARP) are the only identified causes of Schimke
immunoosseous dysplasia (SIOD). HARP has a unique annealing helicase activity in vitro …

SMARCAL1 (also known as HARP) is a SWI/SNF family protein with an ATPase activity
stimulated by DNA containing both single-stranded and double-stranded regions. Mutations …