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A CpG island promoter drives the CXXC5 gene expression.
Sci Rep
August 2021
Department of Biological Sciences, Middle East Technical University, Ankara, 06800, Turkey.
CXXC5 is a member of the zinc-finger CXXC family that binds to unmethylated CpG dinucleotides. CXXC5 modulates gene expressions resulting in diverse cellular events mediated by distinct signaling pathways. However, the mechanism responsible for CXXC5 expression remains largely unknown.
View Article and Find Full Text PDFCXXC5 variant in an immunodeficient patient with a progressive loss of hematopoietic cells.
J Allergy Clin Immunol
April 2021
Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah.
The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction.
J Biol Chem
April 2018
From the Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan 48201.
Coiled-coil-helix-coiled-coil-helix domain-containing 10 (CHCHD10) and CHCHD2 (MNRR1) are homologous proteins with 58% sequence identity and belong to the twin CXC family of proteins that mediate cellular stress responses. Despite the identification of several neurodegeneration-associated mutations in the gene, few studies have assessed its physiological role. Here, we investigated CHCHD10's function as a regulator of oxidative phosphorylation in the mitochondria and the nucleus.
View Article and Find Full Text PDFDiscovery of novel protein partners of the transcription factor FOXL2 provides insights into its physiopathological roles.
Hum Mol Genet
July 2012
Institut Jacques Monod, UMR 7592 CNRS-Université Paris Diderot, Paris 75205, France.
FOXL2 transcription factor is responsible for the Blepharophimosis Ptosis Epicantus inversus Syndrome (BPES), a genetic disease involving craniofacial malformations often associated with ovarian failure. Recently, a somatic FOXL2 mutation (p.C134W) has been reported in >95% of adult-type granulosa cell tumors.
View Article and Find Full Text PDFDeep RNA sequencing reveals novel cardiac transcriptomic signatures for physiological and pathological hypertrophy.
PLoS One
August 2012
School of Life Sciences and Systems Biology Research Center, Gwangju Institute of Science and Technology (GIST), Gwangju, Republic of Korea.
Although both physiological hypertrophy (PHH) and pathological hypertrophy (PAH) of the heart have similar morphological appearances, only PAH leads to fatal heart failure. In the present study, we used RNA sequencing (RNA-Seq) to determine the transcriptomic signatures for both PHH and PAH. Approximately 13-20 million reads were obtained for both models, among which PAH showed more differentially expressed genes (DEGs) (2,041) than PHH (245).
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