Results 31 to 40 of about 90,161 (348)

Time is of the essence: the molecular mechanisms of primary microcephaly

Genes & Development, 2021
In this review, Phan et al. discuss the different models that have been proposed to explain how centrosome dysfunction impairs cortical development, and review the evidence supporting a unified model in which centrosome defects reduce cell proliferation ...
Thao P Phan, A. Holland
semanticscholar   +1 more source

Investigating microcephaly [PDF]

Archives of Disease in Childhood, 2013
1. Microcephaly is a clinical finding, not a 'disease', and is a crude but trusted assessment of intracranial brain volume. 2. Developmental processes reducing in utero neuron generation present at birth with 'Primary microcephaly'. 3. 'Secondary microcephaly' develops after birth and predominantly reflects dendritic or white matter diseases.
C Geoffrey, Woods, Alasdair, Parker
openaire   +2 more sources

Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly

Journal of Head & Neck Physicians and Surgeons, 2022
Microcephaly is a rare neurological condition, and it is characterized by a smaller head than other children of the same age and sex. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MLCRD) is a syndrome with a varying ...
Sinem Yalcintepe, Hazal Sezginer Guler, Drenushe Zhuri, Damla Eker, Hakan Gurkan   +4 more
doaj   +1 more source

Multifaceted Microcephaly-Related Gene MCPH1

Cells, 2022
MCPH1, or BRIT1, is often mutated in human primary microcephaly type 1, a neurodevelopmental disorder characterized by a smaller brain size at birth, due to its dysfunction in regulating the proliferation and self-renewal of neuroprogenitor cells. In the
Martina Kristofova, A. Ori, Zhao-Qi Wang
semanticscholar   +1 more source

Development of an adverse outcome pathway for radiation-induced microcephaly via expert consultation and machine learning

International Journal of Radiation Biology, 2022
Background Brain development during embryogenesis and in early postnatal life is particularly complex and involves the interplay of many cellular processes and molecular mechanisms, making it extremely vulnerable to exogenous insults, including ionizing ...
T. Jaylet, R. Quintens, M. A. Benotmane, Jukka Luukkonen, I. B. Tanaka, C. Ibanez, Christelle Durand, M. Sachana, O. Azimzadeh, C. Adam-Guillermin, K. Tollefsen, Olivier Laurent, Karine Audouze, O. Armant   +13 more
semanticscholar   +1 more source

Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]

, 2017
Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Abramowicz, Marc, David, Philippe, Desmyter, Laurence, Duerinckx, Sarah, Perazzolo, Camille, Pirson, Isabelle, Verhelst, Helene   +6 more
core   +2 more sources

Zika virus: New clinical syndromes and its emergence in the western hemisphere [PDF]

, 2016
Zika virus (ZIKV) had remained a relatively obscure flavivirus until a recent series of outbreaks accompanied by unexpectedly severe clinical complications brought this virus into the spotlight as causing an infection of global public health concern.
Brazilian Medical Genetics Society–Zika Embryopathy Task Force, Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, Collaborative Cross Consortium, European Centre for Disease Prevention and Control, European Centre for Disease Prevention and Control, Helen M. Lazear, Michael S. Diamond, T. C. Pierson   +9 more
core   +3 more sources

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]

, 2019
Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G., Mancuso G., Martorana C., Montante C., Notarbartolo V., Piro E., Schierz I. A. M., Vanella V.   +7 more
core   +1 more source

Using brain organoids to understand Zika virus-induced microcephaly

Development, 2017
Xuyu Qian, Ha Nam Nguyen, Fadi Jacob, Hongjun Song, Guo‐li Ming   +4 more
openalex   +2 more sources