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Julien Cottineau, Molly C Kottemann, Francis P Lach, Young-Hoon Kang, Frédéric Vély, Elissa K Deenick, Tomi Lazarov, Laure Gineau, Yi Wang, Andrea Farina, Marie Chansel, Lazaro Lorenzo, Christelle Piperoglou, Cindy S Ma, Patrick Nitschke, Aziz Belkadi, Yuval Itan, Bertrand Boisson, Fabienne Jabot-Hanin, Capucine Picard, Jacinta Bustamante, Céline Eidenschenk, Soraya Boucherit, Nathalie Aladjidi, Didier Lacombe, Pascal Barat, Waseem Qasim, Jane A Hurst, Andrew J Pollard, Holm H Uhlig, Claire Fieschi, Jean Michon, Vladimir P Bermudez, Laurent Abel, Jean-Pierre de Villartay, Frédéric Geissmann, Stuart G Tangye, Jerard Hurwitz, Eric Vivier, Jean-Laurent Casanova, Agata Smogorzewska, Emmanuelle Jouanguy
Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the 5 patients also had postnatal growth retardation. The association of neutropenia and NK cell deficiency, which is unusual among primary immunodeficiencies and bone marrow failures, was due to a blockade in the bone marrow and was mildly symptomatic. We discovered compound heterozygous rare mutations in Go-Ichi-Ni-San (GINS) complex subunit 1 (GINS1, also known as PSF1) in the 5 patients...
May 1, 2017: Journal of Clinical Investigation
Cristina Nieto-Jiménez, Ana Alcaraz-Sanabria, Raquel Páez, Javier Pérez-Peña, Verónica Corrales-Sánchez, Atanasio Pandiella, Alberto Ocaña
BACKGROUND: Control of DNA damage is frequently deregulated in solid tumors. Upregulation of genes within this process can be indicative of a more aggressive phenotype and linked with worse outcome. In the present article we identify DNA damage related genes associated with worse outcome in breast cancer. RESULTS: 2286 genes were differentially expressed between normal breast tissue and basal-like tumors, and 62 included in the DNA metabolic process function. Expression of RAD51, GINS1, TRIP13 and MCM2 were associated with detrimental relapse free survival (RFS) and overall survival (OS) in luminal tumors...
July 28, 2016: Oncotarget
Dong-Hui Chen, Alipi Naydenov, Jacqueline L Blankman, Heather C Mefford, Marie Davis, Youngmee Sul, A Samuel Barloon, Emily Bonkowski, John Wolff, Mark Matsushita, Corrine Smith, Benjamin F Cravatt, Ken Mackie, Wendy H Raskind, Nephi Stella, Thomas D Bird
PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts) is a recently described autosomal-recessive neurodegenerative disease caused by mutations in the α-β-hydrolase domain-containing 12 gene (ABHD12). Only five homozygous ABHD12 mutations have been reported and the pathogenesis of PHARC remains unclear. We evaluated a woman who manifested short stature as well as the typical features of PHARC. Sequence analysis of ABHD12 revealed a novel heterozygous c.1129A>T (p.Lys377*) mutation...
December 2013: Human Mutation
Martin Koch, Michael Wiese
PURPOSE: To assign functional properties to gene expression profiles of cervical cancer stages and identify clinically relevant biomarker genes. EXPERIMENTAL DESIGN: Microarray samples of 24 normal and 102 cervical cancer biopsies from four publicly available studies were pooled and evaluated. High-quality microarrays were normalized using the CONOR package from the Bioconductor project. Gene expression profiling was performed using variance-component analysis for accessing most reliable probes, which were subsequently processed by gene set enrichment analysis...
February 2013: Journal of Cancer Research and Clinical Oncology
L Guo, X Li, J-X Huang, H-Y Huang, Y-Y Zhang, S-W Qian, H Zhu, Y-D Zhang, Y Liu, Y Liu, K-K Wang, Q-Q Tang
CCAAT/enhancer-binding protein (C/EBP) β is required for both mitotic clonal expansion (MCE) and terminal adipocyte differentiation of 3T3-L1 preadipocytes. Although the role of C/EBPβ in terminal adipocyte differentiation is well defined, its mechanism of action during MCE is not. In this report, histone demethylase Kdm4b, as well as cell cycle genes Cdc45l (cell division cycle 45 homolog), Mcm3 (mini-chromosome maintenance complex component 3), Gins1 (GINS complex subunit 1) and Cdc25c (cell division cycle 25 homolog c), were identified as potential C/EBPβ target genes during MCE by utilizing promoter-wide chromatin immunoprecipitation (ChIP)-on-chip analysis combined with gene expression microarrays...
December 2012: Cell Death and Differentiation
S S Rich, M O Goodarzi, N D Palmer, C D Langefeld, J Ziegler, S M Haffner, M Bryer-Ash, J M Norris, K D Taylor, T Haritunians, J I Rotter, Y-D I Chen, L E Wagenknecht, D W Bowden, R N Bergman
AIMS/HYPOTHESIS: This study sought to identify genes and regions in the human genome that are associated with the acute insulin response to glucose (AIRg), an important predictor of type 2 diabetes, in Hispanic-American participants from the Insulin Resistance Atherosclerosis Family Study (IRAS FS). METHODS: A two-stage genome-wide association scan (GWAS) was performed in IRAS FS Hispanic-American samples. In the first stage, 317K single nucleotide polymorphisms (SNPs) were assessed in 229 Hispanic-American DNA samples from 34 families from San Antonio, TX, USA...
July 2009: Diabetologia
Li-Ching Lee, Chiung-Mei Chen, Fen-Lin Chen, Pei-Ying Lin, Ya-Chin Hsiao, Pin-Rong Wang, Ming-Tsan Su, Hsiu-Mei Hsieh-Li, Ji-Chuu Hwang, Chung-Hsin Wu, Guan-Chiun Lee, Sher Singh, Yenshou Lin, Sen-Yung Hsieh, Guey-Jen Lee-Chen, Jung-Yaw Lin
BACKGROUND: Expansion of the CAG repeat of the TATA-box binding protein (TBP) gene has been identified as the causative mutations in spinocerebellar ataxia 17 (SCA17). TBP is ubiquitously expressed in both central nervous system and peripheral tissues. The underlying molecular changes of SCA17 are rarely explored. METHODS: To study the molecular mechanisms underlying SCA17, we generated stably induced isogenic 293 cells expressing normal TBP-Q(36) and expanded TBP-Q(61) and analyzed the expressed proteins using two-dimensional difference in gel electrophoresis (2D-DIGE), followed by mass spectrometry and immunoblotting...
February 2009: Clinica Chimica Acta; International Journal of Clinical Chemistry
Byungwoo Ryu, Dave S Kim, Amena M Deluca, Rhoda M Alani
BACKGROUND: Gene expression profiling has revolutionized our ability to molecularly classify primary human tumors and significantly enhanced the development of novel tumor markers and therapies; however, progress in the diagnosis and treatment of melanoma over the past 3 decades has been limited, and there is currently no approved therapy that significantly extends lifespan in patients with advanced disease. Profiling studies of melanoma to date have been inconsistent due to the heterogeneous nature of this malignancy and the limited availability of informative tissue specimens from early stages of disease...
July 4, 2007: PloS One
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