Results 91 to 100 of about 6,305,601 (337)

Bipartite structure of the inactive mouse X chromosome

Genome Biology, 2015
BackgroundIn mammals, one of the female X chromosomes and all imprinted genes are expressed exclusively from a single allele in somatic cells. To evaluate structural changes associated with allelic silencing, we have applied a recently developed Hi-C ...
Xinxian Deng, Wenxiu Ma, V. Ramani, Andrew J. Hill, Fan Yang, F. Ay, J. B. Berletch, C. Blau, J. Shendure, Z. Duan, William Stafford Noble, C. Disteche   +11 more
semanticscholar   +1 more source

Functional Connectivity Associations With Markers of Disease Progression in GRN Pathogenic Variant Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autosomal dominant progranulin (GRN) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN‐related therapies are underway, there is an unmet need for biomarkers that can predict symptom onset and track disease progression.
Taru M. Flagan, Stephanie A. Chu, Suvi Häkkinen, Liwen Zhang, David McFall, Jonathan D. Rohrer, Jesse A. Brown, Alex J. Lee, Kristen Fernhoff, Lorenzo Pasquini, Katherine P. Rankin, Maria Luisa Mandelli, Maria Luisa Gorno‐Tempini, Jennifer S. Yokoyama, Virginia E. Sturm, Brian Appleby, Bradford C. Dickerson, Kimiko Domoto‐Reilly, Tatiana Foroud, Daniel H. Geschwind, Nupur Ghoshal, Neill R. Graff‐Radford, Ging‐Yuek Robin Hsiung, Eric J. Huang, Edward Huey, Kejal Kantarci, Irene Litvan, Ian R. Mackenzie, Mario F. Mendez, Chiadi U. Onyike, Leonard Petrucelli, Eliana Marisa Ramos, Erik D. Roberson, Julio C. Rojas, Maria Carmela Tartaglia, Arthur W. Toga, Sandra Weintraub, Leah K. Forsberg, Hilary W. Heuer, Brad F. Boeve, Adam L. Boxer, Howard J. Rosen, Bruce L. Miller, Fermin Moreno, William W. Seeley, Suzee E. Lee, on behalf of the ALLFTD Consortium   +46 more
wiley   +1 more source

Varying levels of X chromosome coalescence in female somatic cells alters the balance of X-linked dosage compensation and is implicated in female-dominant systemic lupus erythematosus

Scientific Reports, 2019
The three-dimensional organization of the genome in mammalian interphase nuclei is intrinsically linked to the regulation of gene expression. Whole chromosome territories and their encoded gene loci occupy preferential positions within the nucleus that ...
Agnieszka I. Laskowski, Daniel S. Neems, Kyle Laster, Chelsee Strojny-Okyere, Ellen L. Rice, Iwona M. Konieczna, Jessica H. Voss, James M. Mathew, Joseph R. Leventhal, Rosalind Ramsey-Goldman, Erica D. Smith, Steven T. Kosak   +11 more
doaj   +1 more source

BRCA1-mediated repression of select X chromosome genes

Journal of Translational Medicine, 2004
Recently BRCA1 has been implicated in the regulation of gene expression from the X chromosome. In this study the influence of BRCA1 on expression of X chromosome genes was investigated.
Ropers H Hilger, Liu Edison T, Nuber Ulrike A, Sotiriou Christos, Aprelikova Olga, Chandramouli Gadisetti VR, Jazaeri Amir A, Yee Cindy J, Boyd Jeff, Barrett J Carl   +9 more
doaj   +1 more source

Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities

Annals of Clinical and Translational Neurology, EarlyView.
Chronic pain affected 66.2% of 10,631 individuals with Parkinson's disease, with higher prevalence and severity in females. Pain most often involved the buttocks, lower back, neck, and knees, and was linked to depression, sleep disorders, and osteoarthritis.
Natalia S. Ogonowski, Freddy Chafota, Fangyuan Cao, Amanda Wei Yin Lim, Victor Flores‐Ocampo, Santiago Díaz‐Torres, Zuriel Ceja, Luis M. García‐Marín, Scott F. Farrell, Kishore R. Kumar, Jane Alty, George D. Mellick, Trung Thành Ngô, Miguel E. Rentería   +13 more
wiley   +1 more source

Movement of X Chromosome in Epileptic Cortex

Pediatric Neurology Briefs, 1989
Chronic uncontrolled seizure activity was linked to specific positional changes of the X chromosome in neurons of cortical seizure foci from both male and female patients at Yale University School of Medicine, New Haven, Connecticut.
J Gordon Millichap
doaj   +1 more source

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant

Molecular Genetics & Genomic Medicine, 2020
Background Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss‐of‐function variant in X‐linked MECP2.
Satoru Takahashi, Ryo Takeguchi, Mami Kuroda, Ryosuke Tanaka   +3 more
doaj   +1 more source

Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation

Human Molecular Genetics, 2014
X-chromosome inactivation (XCI) achieves dosage compensation between males and females through the silencing of the majority of genes on one of the female X chromosomes. Thus, the female X chromosomes provide a unique opportunity to study euchromatin and
Allison M. Cotton, Allison M. Cotton, E. M. Price, E. M. Price, Meaghan J. Jones, Meaghan J. Jones, Bradley P. Balaton, Bradley P. Balaton, M. Kobor, M. Kobor, Carolyn J. Brown, Carolyn J. Brown   +11 more
semanticscholar   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

X-Ray fractionation and chromosome breakage [PDF]

, 1951
G. R. Lane
openalex   +1 more source