Molecular genetics of human primary microcephaly: an overview

M Faheem, MI Naseer, M Rasool, AG Chaudhary… - BMC medical …, 2015 - Springer
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that
is characterised by microcephaly present at birth and non-progressive mental retardation …

Primary microcephaly: do all roads lead to Rome?

GK Thornton, CG Woods - Trends in Genetics, 2009 - cell.com
The relatively large brain and expanded cerebral cortex of humans is unusual in the animal
kingdom and is thought to have promoted our adaptability and success as a species. One …

Disease-associated mutation in SRSF2 misregulates splicing by altering RNA-binding affinities

J Zhang, YK Lieu, AM Ali, A Penson, KS Reggio… - Proceedings of the …, 2015 - pnas.org
Serine/arginine-rich splicing factor 2 (SRSF2) is an RNA-binding protein that plays important
roles in splicing of mRNA precursors. SRSF2 mutations are frequently found in patients with …

Many roads lead to primary autosomal recessive microcephaly

AM Kaindl, S Passemard, P Kumar, N Kraemer… - Progress in …, 2010 - Elsevier
Autosomal recessive primary microcephaly (MCPH), historically referred to as Microcephalia
vera, is a genetically and clinically heterogeneous disease. Patients with MCPH typically …

Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

S Mahmood, W Ahmad, MJ Hassan - Orphanet journal of rare diseases, 2011 - Springer
Abstract Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of
neurogenic mitosis characterized by reduced head circumference at birth with variable …

Molecular and cellular basis of autosomal recessive primary microcephaly

M Barbelanne, WY Tsang - BioMed research international, 2014 - Wiley Online Library
Autosomal recessive primary microcephaly (MCPH) is a rare hereditary
neurodevelopmental disorder characterized by a marked reduction in brain size and …

Cdk5rap2 exposes the centrosomal root of microcephaly syndromes

TL Megraw, JT Sharkey, RS Nowakowski - Trends in cell biology, 2011 - cell.com
Autosomal recessive primary microcephaly (MCPH) is characterized by small brain size as a
result of deficient neuron production in the develo** cerebral cortex. Although MCPH is a …

CEP proteins: the knights of centrosome dynasty

A Kumar, V Rajendran, R Sethumadhavan, R Purohit - Protoplasma, 2013 - Springer
Centrosome forms the backbone of cell cycle progression mechanism. Recent debates have
occurred regarding the essentiality of centrosome in cell cycle regulation. CEP family protein …

MORC2 regulates RBM39-mediated CDK5RAP2 alternative splicing to promote EMT and metastasis in colon cancer

Y He, Y Shao, Z Zhou, T Li, Y Gao, X Liu, G Yuan… - Cell Death & …, 2024 - nature.com
Colorectal carcinogenesis and progression are associated with aberrant alternative splicing,
yet its molecular mechanisms remain largely unexplored. Here, we find that Microrchidia …

Emerging roles of centrosome cohesion

H Dang, E Schiebel - Open Biology, 2022 - royalsocietypublishing.org
The centrosome, consisting of centrioles and the associated pericentriolar material, is the
main microtubule-organizing centre (MTOC) in animal cells. During most of interphase, the …