A developmental and genetic classification for malformations of cortical development: update 2012

AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson… - Brain, 2012 - academic.oup.com
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

Short and tall stature: a new paradigm emerges

J Baron, L Sävendahl, F De Luca, A Dauber… - Nature Reviews …, 2015 - nature.com
In the past, the growth hormone (GH)–insulin-like growth factor 1 (IGF-1) axis was often
considered to be the main system that regulated childhood growth and, therefore …

The missing link between genetic association and regulatory function

NJ Connally, S Nazeen, D Lee, H Shi… - Elife, 2022 - elifesciences.org
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

Recent Zika virus isolates induce premature differentiation of neural progenitors in human brain organoids

E Gabriel, A Ramani, U Karow, M Gottardo… - Cell stem cell, 2017 - cell.com
The recent Zika virus (ZIKV) epidemic is associated with microcephaly in newborns.
Although the connection between ZIKV and neurodevelopmental defects is widely …

[HTML][HTML] Centrioles, centrosomes, and cilia in health and disease

EA Nigg, JW Raff - Cell, 2009 - cell.com
Centrioles are barrel-shaped structures that are essential for the formation of centrosomes,
cilia, and flagella. Here we review recent advances in our understanding of the function and …

Subdiffraction-resolution fluorescence microscopy reveals a domain of the centrosome critical for pericentriolar material organization

V Mennella, B Keszthelyi, KL McDonald, B Chhun… - Nature cell …, 2012 - nature.com
As the main microtubule-organizing centre in animal cells, the centrosome has a
fundamental role in cell function. Surrounding the centrioles, the pericentriolar material …

[HTML][HTML] Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

M Chaki, R Airik, AK Ghosh, RH Giles, R Chen… - Cell, 2012 - cell.com
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …

Quantitative proteomics combined with BAC TransgeneOmics reveals in vivo protein interactions

NC Hubner, AW Bird, J Cox, B Splettstoesser… - Journal of Cell …, 2010 - rupress.org
Protein interactions are involved in all cellular processes. Their efficient and reliable
characterization is therefore essential for understanding biological mechanisms. In this …

Centrosomes and cilia in human disease

M Bettencourt-Dias, F Hildebrandt, D Pellman… - Trends in Genetics, 2011 - cell.com
Centrioles are microtubule-derived structures that are essential for the formation of
centrosomes, cilia and flagella. The centrosome is the major microtubule organiser in animal …

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

P Heyn, CV Logan, A Fluteau, RC Challis… - Nature …, 2019 - nature.com
DNA methylation and Polycomb are key factors in the establishment of vertebrate cellular
identity and fate. Here we report de novo missense mutations in DNMT3A, which encodes …