Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-107518
Abstract: Background Minichromosomal maintenance (MCM) complex components 2, 4, 5 and 6 have been linked to human disease with phenotypes including microcephaly and intellectual disability. The MCM complex has DNA helicase activity and is thereby important… read more here.
Keywords: microcephaly intellectual; intellectual disability; autosomal recessive; recessive primary ... See more keywords
Expression Analyses of Cep152, a Responsible Gene Product for Autosomal Recessive Primary Microcephaly, during Mouse Brain Development
Sign Up to like & getrecommendations! Published in 2022 at "Developmental Neuroscience"
DOI: 10.1159/000523922
Abstract: Centrosomal protein 152 (Cep152) regulates centriole duplication as a molecular scaffold during the cell cycle. Its gene abnormalities are responsible for autosomal recessive primary microcephaly 9 and Seckel syndrome. In this study, we prepared an… read more here.
Keywords: brain development; cep152; autosomal recessive; recessive primary ... See more keywords
Autosomal Recessive Primary Microcephaly: Not Just a Small Brain
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2021.784700
Abstract: Microcephaly or reduced head circumference results from a multitude of abnormal developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal recessive primary microcephaly (MCPH) is the prototype of isolated primary (congenital) microcephaly, affecting… read more here.
Keywords: recessive primary; primary microcephaly; autosomal recessive; mcph ... See more keywords