Concept

Microcephaly

Related publications (11)

Probing the distribution of cortical components, including PtdIns(4,5)P2, during asymmetric division of C. elegans embryos

Asymmetric cell division is crucial for embryonic development and stem cell lineages. In the one-cell C. elegans embryo, a contractile cortical actomyosin network contributes to asymmetric division by segregating PAR proteins to discrete cortical domains. ...

EPFL2018

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Bart Deplancke, Marion Leleu, Nele Gheldof, Loyse Hippolyte

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with ...

Springer Nature2017

Zika virus causes supernumerary foci with centriolar proteins and impaired spindle positioning

Pierre Gönczy, Coralie Busso, Benita Wolf

Zika virus (ZIKV) causes congenital microcephaly. Although ZIKV can impair cell cycle progression and provoke apoptosis, which probably contributes to disease aetiology through depletion of neural progenitor cells, additional cellular mechanisms may be imp ...

Royal Society, The2017

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Pierre Gönczy

Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate cell division have been reported to cause autosomal recessive primary microcephaly (MCPH). By ho ...

Oxford Univ Press2014

Impact of the apolipoprotein E polymorphism, age and sex on neurogenesis in mice: Pathophysiological relevance for Alzheimer's disease?

Johan Auwerx

Apolipoprotein E (ApoE) is found in three different forms in humans (ApoE2, ApoE3 and ApoE4), and ApoE polymorphism is recognized as a major risk factor for Alzheimer's disease (AD). ApoE is involved in lipid and cholesterol transport, cell repair, and amy ...

Elsevier2014

Longitudinal analysis of brain network reorganization in preterm IUGR children at 1, 6 and 9 years-old

Jean-Philippe Thiran, Elda Fischi Gomez

Intrauterine Growth Restriction (IUGR) due to placental insufficiency affects 5-10% of all pregnancies and it is associated with a wide range of short and long-term neurodevelopmental disorders. Different approaches have been considered to understand IUGR ...

2014

Spindle positioning in human cells relies on proper centriole formation and on the microcephaly proteins CPAP and STIL

Pierre Gönczy, Petr Strnad, Debora Keller, Fernando Romero Balestra, Gregor Kohlmaier

Patients with MCPH (autosomal recessive primary microcephaly) exhibit impaired brain development, presumably due to the compromised function of neuronal progenitors. Seven MCPH loci have been identified, including one that encodes centrosome protein 4.1 as ...

Company of Biologists2011

NuMA-related LIN-5, ASPM-1, calmodulin and dynein promote meiotic spindle rotation independently of cortical LIN-5/GPR/Galpha

Pierre Gönczy

The spindle apparatus dictates the plane of cell cleavage, which is critical in the choice between symmetric or asymmetric division. Spindle positioning is controlled by an evolutionarily conserved pathway, which involves LIN-5/GPR-1/2/Galpha in Caenorhabd ...

2009

A Surface-based approach to Quantify Local Cortical Gyrification

Jean-Philippe Thiran, Meritxell Bach Cuadra, Marie Schaer, François Lazeyras

The high complexity of cortical convolutions in humans remains a mystery for both engineers to measure and compare it, and for biologists to understand it. We developed a method for the quantification of the cortical area allowed by the process of folding. ...

2008

Electrical properties and defect structure of niobia-doped ceria

Jan Van Herle, Joseph Sfeir

The electrical conductivity of Ce0.992Nb0.008O2−δ was measured as a function of oxygen partial pressure between 10−28 and 1 bar in the temperature range of 873–1173 K. The activation energy for the conductivity at an oxygen partial pressure of 10−4 bar was ...

Elsevier2004

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