Sara Mercurio
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Explore the profile of Sara Mercurio including associated specialties, affiliations and a list of published articles.
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Citations
810
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Recent Articles
1.
Moleri S, Mercurio S, Pezzotta A, DAngelo D, Brix A, Plebani A, et al.
Cells
. 2023 Sep;
12(18).
PMID: 37759531
Mutations in the transcription factor-coding gene , the growth factor-coding gene and its receptor-coding gene cause primary lymphedema in humans. In mammals, SOX18, together with COUP-TFII/NR2F2, activates the expression of...
2.
Mercurio S
Int J Mol Sci
. 2023 Apr;
24(8).
PMID: 37108798
The SOX2 transcription factor is a key regulator of nervous system development, and its mutation in humans leads to a rare disease characterized by severe eye defects, cognitive defects, hearing...
3.
Mercurio S, Pozzolini G, Baldi R, Barila S, Pitasi M, Catona O, et al.
Int J Mol Sci
. 2023 Jan;
24(2).
PMID: 36674677
DNA sequence variants (single nucleotide polymorphisms or variants, SNPs/SNVs; copy number variants, CNVs) associated to neurodevelopmental disorders (NDD) and traits often map on putative transcriptional regulatory elements, including, in particular,...
4.
Mercurio S, Serra L, Pagin M, Nicolis S
Cells
. 2022 May;
11(10).
PMID: 35626641
SOX2 is a transcription factor conserved throughout vertebrate evolution, whose expression marks the central nervous system from the earliest developmental stages. In humans, mutation leads to a spectrum of CNS...
5.
Foglio B, Rossini L, Garbelli R, Regondi M, Mercurio S, Bertacchi M, et al.
Brain Struct Funct
. 2021 Mar;
226(4):1303-1322.
PMID: 33661352
The neocortex, the most recently evolved brain region in mammals, is characterized by its unique areal and laminar organization. Distinct cortical layers and areas can be identified by the presence...
6.
An early Sox2-dependent gene expression programme required for hippocampal dentate gyrus development
Mercurio S, Alberti C, Serra L, Meneghini S, Berico P, Bertolini J, et al.
Open Biol
. 2021 Feb;
11(2):200339.
PMID: 33622105
The hippocampus is a brain area central for cognition. Mutations in the human SOX2 transcription factor cause neurodevelopmental defects, leading to intellectual disability and seizures, together with hippocampal dysplasia. We...
7.
Mercurio S, Serra L, Nicolis S
Int J Mol Sci
. 2019 Sep;
20(18).
PMID: 31540269
The Sox2 transcription factor, encoded by a gene conserved in animal evolution, has become widely known because of its functional relevance for stem cells. In the developing nervous system, Sox2...
8.
Mercurio S, Serra L, Motta A, Gesuita L, Sanchez-Arrones L, Inverardi F, et al.
iScience
. 2019 May;
15:257-273.
PMID: 31082736
Visual system development involves the formation of neuronal projections connecting the retina to the thalamic dorso-lateral geniculate nucleus (dLGN) and the thalamus to the visual cerebral cortex. Patients carrying mutations...
9.
Bertolini J, Favaro R, Zhu Y, Pagin M, Ngan C, Wong C, et al.
Cell Stem Cell
. 2019 Mar;
24(3):462-476.e6.
PMID: 30849367
The SOX2 transcription factor is critical for neural stem cell (NSC) maintenance and brain development. Through chromatin immunoprecipitation (ChIP) and chromatin interaction analysis (ChIA-PET), we determined genome-wide SOX2-bound regions and...
10.
Cerrato V, Mercurio S, Leto K, Fuca E, Hoxha E, Bottes S, et al.
Glia
. 2018 May;
66(9):1929-1946.
PMID: 29732603
Sox2 is a transcription factor active in the nervous system, within different cell types, ranging from radial glia neural stem cells to a few specific types of differentiated glia and...