Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1710046
Abstract: This study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time,… read more here.
Keywords: primary microcephaly; coincidental time; time; mcph1 ... See more keywords
Microcephaly family protein MCPH1 stabilizes RAD51 filaments
Sign Up to like & getrecommendations! Published in 2020 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkaa636
Abstract: Abstract Microcephalin 1 (MCPH1) was identified from genetic mutations in patients with primary autosomal recessive microcephaly. In response to DNA double-strand breaks (DSBs), MCPH1 forms damage-induced foci and recruits BRCA2–RAD51 complex, a key component of… read more here.
Keywords: protein; microcephaly family; family protein; protein mcph1 ... See more keywords
The emerging role of MCPH1/BRIT1 in carcinogenesis
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2023.1047588
Abstract: The MCPH1 gene, also known as BRCT-repeat inhibitor of hTERT expression (BRIT1), has three BRCA1 carboxyl-terminal domains which is an important regulator of DNA repair, cell cycle checkpoints and chromosome condensation. MCPH1/BRIT1 is also known… read more here.
Keywords: mcph1; role; gene; cancer ... See more keywords