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   Articles with "zc4h2" as a keyword



The pathogenic factor of ZC4H2-associated rare disorder is a postsynaptic regulator for synaptic activity and cognitive function.

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recommendations! Published in 2025 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2426375122

Abstract: Significance Intellectual disability represents a core clinical manifestation of ZC4H2-associated rare disorder (ZARD), yet the underlying synaptic etiology remains elusive. In this study, with a conditional knockout mouse model depleting its pathogenic factor ZC4H2 in… read more here.

Keywords: rare disorder; zc4h2 associated; associated rare; zc4h2 ... See more keywords

ZC4H2 stabilizes RNF220 to pattern ventral spinal cord through modulating Shh/Gli signaling

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recommendations! Published in 2019 at "Journal of Molecular Cell Biology"

DOI: 10.1093/jmcb/mjz087

Abstract: Abstract ZC4H2 encodes a C4H2 type zinc-finger nuclear factor, the mutation of which has been associated with disorders with various clinical phenotypes in human, including developmental delay, intellectual disability and dystonia. ZC4H2 has been suggested… read more here.

Keywords: zc4h2; gli signaling; ventral spinal; spinal cord ... See more keywords

ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved in neural development in Xenopus

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recommendations! Published in 2017 at "Open Biology"

DOI: 10.1098/rsob.170122

Abstract: Bone morphogenetic proteins (BMPs) play vital roles in regulating stem cell maintenance, differentiation and embryonic development. Intracellularly, BMP signalling is mediated by Smad proteins, which are regulated post-transcriptionally through reversible phosphorylation and ubiquitination. ZC4H2 is… read more here.

Keywords: xenopus; zc4h2; neural development; bmp signalling ... See more keywords

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

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recommendations! Published in 2022 at "Clinical Genetics"

DOI: 10.1111/cge.14248

Abstract: ZC4H2 (MIM# 300897) is a nuclear factor involved in various cellular processes including proliferation and differentiation of neural stem cells, ventral spinal patterning and osteogenic and myogenic processes. Pathogenic variants in ZC4H2 have been associated… read more here.

Keywords: tethered cord; related disorder; variant; zc4h2 ... See more keywords