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The promise of whole-exome sequencing in medical genetics
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …
DNA strands at once. These technologies are revolutionizing our understanding in medical …
Proliferation control in neural stem and progenitor cells
Neural circuit function can be drastically affected by variations in the number of cells that are
produced during development or by a reduction in adult cell number owing to disease. For …
produced during development or by a reduction in adult cell number owing to disease. For …
Recent Zika virus isolates induce premature differentiation of neural progenitors in human brain organoids
The recent Zika virus (ZIKV) epidemic is associated with microcephaly in newborns.
Although the connection between ZIKV and neurodevelopmental defects is widely …
Although the connection between ZIKV and neurodevelopmental defects is widely …
The genetic architecture of morphological abnormalities of the sperm tail
Spermatozoa contain highly specialized structural features reflecting unique functions
required for fertilization. Among them, the flagellum is a sperm-specific organelle required to …
required for fertilization. Among them, the flagellum is a sperm-specific organelle required to …
The genetics of primary microcephaly
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 …
development that results in a head circumference more than 3 standard deviations below …
Molecular genetics of human primary microcephaly: an overview
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that
is characterised by microcephaly present at birth and non-progressive mental retardation …
is characterised by microcephaly present at birth and non-progressive mental retardation …
Towards a molecular architecture of centriole assembly
P Gönczy - Nature reviews Molecular cell biology, 2012 - nature.com
The centriole is an evolutionarily conserved macromolecular structure that is crucial for the
formation of flagella, cilia and centrosomes. The ultrastructure of the centriole was first …
formation of flagella, cilia and centrosomes. The ultrastructure of the centriole was first …
Centrosome amplification causes microcephaly
V Marthiens, MA Rujano, C Pennetier, S Tessier… - Nature cell …, 2013 - nature.com
Centrosome amplification is a hallmark of human tumours. In flies, extra centrosomes cause
spindle position defects that result in the expansion of the neural stem cell (NSC) pool and …
spindle position defects that result in the expansion of the neural stem cell (NSC) pool and …
CPAP promotes timely cilium disassembly to maintain neural progenitor pool
E Gabriel, A Wason, A Ramani, LM Gooi, P Keller… - The EMBO …, 2016 - embopress.org
A mutation in the centrosomal‐P4. 1‐associated protein (CPAP) causes Seckel syndrome
with microcephaly, which is suggested to arise from a decline in neural progenitor cells …
with microcephaly, which is suggested to arise from a decline in neural progenitor cells …
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
Centrioles are essential for ciliogenesis. However, mutations in centriole biogenesis genes
have been reported in primary microcephaly and Seckel syndrome, disorders without the …
have been reported in primary microcephaly and Seckel syndrome, disorders without the …