Results 211 to 220 of about 317,261 (329)

Reactivation of Human X-Linked Gene and Stable X-Chromosome Inactivation Observed in Generation and Differentiation of iPSCs from a Female Patient with HNRNPH2 Mutation. [PDF]

Cells
Chen G, Rodriguez-Lopez A, Wangsa D, Lomash RM, Huang X, Chen CZ, Bowling RA, Ghousifam N, Banks CJ, Hurd KA, Zou J, Zheng W.   +11 more
europepmc   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis. [PDF]

BMC Neurol
Bekircan-Kurt CE, Aksu-Menges E, Kumtepe ET, Durmaz CD, Terzi YK, Ergul-Ulger Z, Temucin ÇM, Erdem-Ozdamar S, Tan E, Balci-Hayta B.   +9 more
europepmc   +1 more source

The role of X-chromosome inactivation during spermatogenesis (Drosophila-allocycly-chromosome evolution-male sterility-dosage compensation).

Proceedings of the National Academy of Sciences of the United States of America, 1972
E. Lifschytz, D. Lindsley
semanticscholar   +1 more source

Proteome Analysis of Corynebacterium diphtheriae–Macrophage Interaction

PROTEOMICS, EarlyView.
ABSTRACT Contact of Corynebacterium diphtheriae with macrophages induces adaptations on both bacterial and cellular sides. The study presented here was aiming to shed light on the simultaneous intracellular adaptation of the bacteria and changes in the proteome of the phagocytes in response to the internalization of C. diphtheriae.
Luca Musella, Jens Möller, Christopher Lischer, Julio Vera‐Gonzalez, Jörg Hofmann, Lisa Ott, Andreas Burkovski   +6 more
wiley   +1 more source

Role of the SAF-A/HNRNPU SAP domain in X chromosome inactivation, nuclear dynamics, transcription, splicing, and cell proliferation. [PDF]

PLoS Genet
Sharp JA, Sparago E, Thomas R, Alimenti K, Wang W, Blower MD.   +5 more
europepmc   +1 more source

Untreated Hair Dye Effluents Enter the Environment: Are They a Threat to Human Health?

Environmental Toxicology, EarlyView.
ABSTRACT The effluents generated during the process of hair dyeing exhibit a complex composition, comprising chemical compounds with varying toxicity levels. While the adverse impact of hair dyes on human health is acknowledged, there is a notable absence of studies addressing the toxicity associated with effluents produced during these activities. The
Letícia Cristina Gonçalves, Matheus Mantuanelli Roberto, Adriana Fabiana Corrêa da Silva, Maria Aparecida Marin‐Morales   +3 more
wiley   +1 more source

Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context. [PDF]

Hum Mol Genet
Peeters S, Baldry S, Korecki AJ, Srinivasan A, Wasserman WW, Simpson EM, Brown CJ.   +6 more
europepmc   +1 more source

Novel reference gene microseminoprotein‐beta based prostate cancer antigen 3 urine test: Enhanced diagnostic performance for prostate cancer and feasibility of non‐digital rectal examination urine sampling

UroPrecision, EarlyView.
Abstract Background The diagnosis of prostate cancer (PCa) is limited by low specificity and invasiveness. This study aims to establish a highly accurate, noninvasive reverse transcription‐quantitative polymerase chain reaction (RT‐qPCR)‐based urinary prostate cancer antigen 3 (PCA3) assay system and explore the feasibility of using first‐morning urine
Jianglei Xu, Lu Yang, Cong Shi, Yiwei Jiang, Jing Chen, Xiaoxiao Sun, Xuejuan Gao, Xian Wang, Jianzhong Jiang, Xiuzhi Duan, Xuchu Wang, Yiyi Xie, Zhixian Yu, Zhihua Tao, Xiaobing Dou, Chunyu Jin   +15 more
wiley   +1 more source

Erosion of X Chromosome Inactivation in Human Pluripotent Cells Initiates with XACT Coating and Depends on a Specific Heterochromatin Landscape.

Cell Stem Cell, 2015
C. Vallot, Jean-François Ouimette, M. Makhlouf, O. Féraud, Julien Pontis, Julien Côme, C. Martinat, A. Bennaceur-Griscelli, M. Lalande, C. Rougeulle   +9 more
semanticscholar   +1 more source