Results 141 to 150 of about 332,161 (328)

An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

Frontiers in Genetics
ObjectivesHemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. Women are usually asymptomatic carriers, and rarely presenting with severe or moderately severe phenotype.
Xiaoyan Tan, Yi Yang, Xia Wu, Jing Zhu, Teng Wang, Huihui Jiang, Shu Chen, Shifeng Lou   +7 more
doaj   +1 more source

Targeting Xist with compounds that disrupt RNA structure and X inactivation. [PDF]

Nature, 2022
Aguilar R, Spencer KB, Kesner B, Rizvi NF, Badmalia MD, Mrozowich T, Mortison JD, Rivera C, Smith GF, Burchard J, Dandliker PJ, Patel TR, Nickbarg EB, Lee JT.   +13 more
europepmc   +1 more source

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation

, 2008
Eric M. Lewis, Manav Singla, Susan Sergeant, Patrick P. Koty, Linda C. McPhail   +4 more
openalex   +2 more sources

Clinical Characteristics and Outcomes of Early‐Onset Versus Late‐Onset LGI1‐Antibody Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Leucine‐rich glioma‐inactivated 1 antibody (LGI1‐Ab) encephalitis predominantly affected older individuals, but has also been reported in younger patients. However, the demographic, clinical, and prognostic characteristics of early‐onset LGI1‐Ab encephalitis have yet to be systematically elucidated. This study aims to systematically
Yu Kong, Shasha Yu, Jing Zhang, Yu Zu, Yujing Zhang, Jing Lv, Xuyang Cao, Xuedan Feng   +7 more
wiley   +1 more source

Analysis of X-inactivation status in a Rett syndrome natural history study cohort. [PDF]

Mol Genet Genomic Med, 2022
Fang X, Butler KM, Abidi F, Gass J, Beisang A, Feyma T, Ryther RC, Standridge S, Heydemann P, Jones M, Haas R, Lieberman DN, Marsh ED, Benke TA, Skinner S, Neul JL, Percy AK, Friez MJ, Caylor RC.   +18 more
europepmc   +1 more source

Nonrandom X Chromosome Inactivation Is Influenced by Multiple Regions on the Murine X Chromosome [PDF]

, 2012
Joanne L. Thorvaldsen, Christopher Krapp, Huntington F. Willard, Marisa S. Bartolomei   +3 more
openalex   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable. [PDF]

PLoS Genet, 2023
Zito A, Roberts AL, Visconti A, Rossi N, Andres-Ejarque R, Nardone S, El-Sayed Moustafa JS, Falchi M, Small KS.   +8 more
europepmc   +1 more source

Is human X chromosome inactivation a sex-determining device?

, 1985
H. Sharat Chandra
openalex   +2 more sources

Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome [PDF]

, 2013
Purpose: Microphthalmia with linear skin defects syndrome (MLS or MIDAS, OMIM #309801) is a rare X-linked male-lethal disorder characterized by microphthalmia or other ocular anomalies and skin lesions limited to the face and neck.
Claerhout, Ilse, Leroy, Bart, Menten, Björn, Vergult, Sarah   +3 more
core   +2 more sources