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Article

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Human molecular genetics - 15 Jun 2015

Jolly Lachlan A, Nguyen Lam Son, Domingo Deepti, Sun Ying, Barry Simon, Hancarova Miroslava, Plevova Pavlina, Vlckova Marketa, Havlovicova Marketa, Kalscheuer Vera M, Graziano Claudio, Pippucci Tommaso, Bonora Elena, Sedlacek Zdenek, Gecz Jozef

Abstract excerpt

Both gain- and loss-of-function mutations have recently implicated HCFC1 in neurodevelopmental disorders. Here, we extend our previous HCFC1 over-expression studies by employing short hairpin RNA to reduce the expression of Hcfc1 in embryonic neural cells. We show that in contrast to over-expression, loss of Hcfc1 favoured proliferation of neural progenitor cells at the expense of differentiation and promoted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25740848
DOI: 10.1093/hmg/ddv083

Genes

HCFC1
MMACHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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