Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature
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DOI: 10.1002/humu.23612
Abstract: The authors have realized that a typographic error occurred in Table 1 in the description of sequence variants usingHGVSnomenclature, compared to the original manuscript. Indeed, in the columns “nucleotide change” and “amino-acid change”, a superscript… read more here.
Keywords: gene involved; gpc3 gene; mutation update; update gpc3 ... See more keywords
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
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DOI: 10.1038/s41431-021-00985-9
Abstract: ITSN1 plays an important role in brain development. Recent studies in large cohorts of subjects with neurodevelopmental disorders have identified de novo variants in ITSN1 gene thereby suggesting that this gene is involved in the… read more here.
Keywords: development; neurodevelopmental disorder; gene; gene involved ... See more keywords
The MKK2a Gene Involved in the MAPK Signaling Cascades Enhances Populus Salt Tolerance
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DOI: 10.3390/ijms231710185
Abstract: Mitogen-activated protein kinase (MAPK) cascades are highly conserved signal transduction modules, which transmit environmental signals in plant cells through stepwise phosphorylation and play indispensable roles in a wide range of physiological and biochemical processes. Here,… read more here.
Keywords: gene; mkk2a gene; mapk signaling; signaling cascades ... See more keywords