ALLMedicine™ Autosomal Recessive Primary Microcephaly Center
Research & Reviews 36 results
Journal of Medical Genetics; Ravindran E, Gutierrez de Velazco C et. al.
Jun 1st, 2021 - 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 for the ini...
European Journal of Medical Genetics; Razmara E, Azimi H et. al.
Nov 13th, 2020 - Major facilitator superfamily domain-containing 2A (MFSD2A) is required for brain uptake of Docosahexaenoic acid and Lysophosphatidylcholine, both are essential for the normal neural development and function. Mutations in MFSD2A dysregulate the ac...
Molecular Genetics & Genomic Medicine; Rasool S, Baig JM et. al.
Jul 17th, 2020 - Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which makes it suitable mo...
European Journal of Human Genetics : EJHG; Scala M, Chua GL et. al.
Jun 23rd, 2020 - Major Facilitator Superfamily Domain containing 2a (MFSD2A) is an essential endothelial lipid transporter at the blood-brain barrier. Biallelic variants affecting function in MFSD2A cause autosomal recessive primary microcephaly 15 (MCPH15, OMIM# ...
Translational Psychiatry; Garrett L, Chang YJ et. al.
Feb 18th, 2020 - Neurodevelopmental disorders are heterogeneous and identifying shared genetic aetiologies and converging signalling pathways affected could improve disease diagnosis and treatment. Truncating mutations of the abnormal spindle-like microcephaly ass...