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A developmental and genetic classification for malformations of cortical development: update 2012
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …
Short and tall stature: a new paradigm emerges
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 …
considered to be the main system that regulated childhood growth and, therefore …
The missing link between genetic association and regulatory function
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 …
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
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 …
[HTML][HTML] Centrioles, centrosomes, and cilia in health and disease
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 …
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
As the main microtubule-organizing centre in animal cells, the centrosome has a
fundamental role in cell function. Surrounding the centrioles, the pericentriolar material …
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
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 …
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 …
characterization is therefore essential for understanding biological mechanisms. In this …
Centrosomes and cilia in human disease
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 …
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 …
identity and fate. Here we report de novo missense mutations in DNMT3A, which encodes …