The genetics of primary microcephaly

D Jayaraman, BI Bae, CA Walsh - Annual review of genomics …, 2018 - annualreviews.org
Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain
development that results in a head circumference more than 3 standard deviations below …

Microtubule-organizing centers

J Wu, A Akhmanova - Annual review of cell and developmental …, 2017 - annualreviews.org
The organization of microtubule networks is crucial for controlling chromosome segregation
during cell division, for positioning and transport of different organelles, and for cell polarity …

Dissecting the genetic and etiological causes of primary microcephaly

F Jean, A Stuart, M Tarailo-Graovac - Frontiers in neurology, 2020 - frontiersin.org
Autosomal recessive primary microcephaly (MCPH;“small head syndrome”) is a rare,
heterogeneous disease arising from the decreased production of neurons during brain …

CAMSAPs and nucleation-promoting factors control microtubule release from γ-TuRC

D Rai, Y Song, S Hua, K Stecker, JL Monster, V Yin… - Nature Cell …, 2024 - nature.com
Abstract γ-Tubulin ring complex (γ-TuRC) is the major microtubule-nucleating factor. After
nucleation, microtubules can be released from γ-TuRC and stabilized by other proteins …

A new horizon of moyamoya disease and associated health risks explored through RNF213

A Koizumi, H Kobayashi, T Hitomi, KH Harada… - … health and preventive …, 2016 - Springer
The cerebrovascular disorder moyamoya disease (MMD) was first described in 1957 in
Japan, and is typically considered to be an Asian-specific disease. However, it is globally …

Autosomal recessive primary microcephaly (MCPH): an update

S Zaqout, D Morris-Rosendahl, AM Kaindl - Neuropediatrics, 2017 - thieme-connect.com
Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a
genetically heterogeneous neurodevelopmental disorder characterized by a significantly …

Premature aging disorders: A clinical and genetic compendium

F Schnabel, U Kornak, B Wollnik - Clinical Genetics, 2021 - Wiley Online Library
Progeroid disorders make up a heterogeneous group of very rare hereditary diseases
characterized by clinical signs that often mimic physiological aging in a premature manner …

Congenital microcephaly: a debate on diagnostic challenges and etiological paradigm of the shift from isolated/non-syndromic to syndromic microcephaly

M Asif, U Abdullah, P Nürnberg, S Tinschert… - Cells, 2023 - mdpi.com
Congenital microcephaly (CM) exhibits broad clinical and genetic heterogeneity and is thus
categorized into several subtypes. However, the recent bloom of disease–gene discoveries …

Multifaceted roles of centrosomes in development, health, and disease

F Qi, J Zhou - Journal of Molecular Cell Biology, 2021 - academic.oup.com
The centrosome is a membrane-less organelle consisting of a pair of barrel-shaped
centrioles and pericentriolar material and functions as the major microtubule-organizing …

Centrosome function is critical during terminal erythroid differentiation

P Tátrai, F Gergely - The EMBO Journal, 2022 - embopress.org
Red blood cells are produced by terminal erythroid differentiation, which involves the
dramatic morphological transformation of erythroblasts into enucleated reticulocytes …