DNA double‐strand breaks ( DSB s) can be repaired by two major pathways: non‐homologous
end‐joining ( NHEJ ) and homologous recombination ( HR ). DNA repair pathway choice …

Skin sun exposure induces two protection programs: stress responses and pigmentation,
the former within minutes and the latter only hours afterward. Although serving the same …

The homologous recombination repair (HRR) pathway repairs DNA double-strand breaks in
an error-free manner. Mutations in HRR genes can result in increased mutation rate and …

Purpose of Review Until recently, the gene associated with the recessive form of familial brain
calcification (PFBC, Fahr disease) was unknown. MYORG, a gene that causes recessive …

DNA repair by homologous recombination (HR) is critical for the maintenance of genome
stability. Germline and somatic mutations in HR genes have been associated with an …

Objective To investigate the genetic basis of the recessive form of primary familial brain
calcification and study pathways linking a novel gene with known dominant genes that cause the …

Osteoclasts are the bone resorbing cells that derive from myeloid progenitor cells. Although
there have been recent advancements in the ability to identify osteoclast progenitors, very …

We report a multiplex family with extended multisystem neurological phenotype associated
with a CRYAB variant. Two affected siblings were evaluated with whole exome sequencing, …

Methods We performed whole-genome sequencing (WGS) of cfDNA from PDAC patients and
healthy controls. For each sample, we calculated cfDNA fragment length distributions, end …

Suppose we have a series of N coin flips D∈{H, T} N. For an individual flip we have xi∼ Ber
(θ) with xi=(1 ith tossing yields head 0 otherwise. To estimate θ we will maximize the …