Results 31 to 40 of about 851,546 (305)

Over-expression of XIST, the Master Gene for X Chromosome Inactivation, in Females With Major Affective Disorders

EBioMedicine, 2015
Background: Psychiatric disorders are common mental disorders without a pathological biomarker. Classic genetic studies found that an extra X chromosome frequently causes psychiatric symptoms in patients with either Klinefelter syndrome (XXY) or Triple X
Baohu Ji, Kerin K. Higa, John R. Kelsoe, Xianjin Zhou   +3 more
doaj   +1 more source

Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene

Stem Cell Research, 2020
X-linked retinoschisis (XLRS) is a one of most common retinal genetic diseases of juvenile progressive vitreoretinal degeneration in males, which caused by the mutation of RS1 gene.
Shengru Mao, Chengcheng Ding, Yalan Zhou, Yutong Jing, Juan Chen, Yonglong Guo, Jian Liu, Zekai Cui, Xin Yan, Jianing Gu, Yini Wang, Jiansu Chen, Shibo Tang   +12 more
doaj   +1 more source

Generation of an iPSC cohort of isogenic iPSC lines (46-XY and 47-XXY) from a non-mosaic Klinefelter Syndrome patient (47-XXY) (KAUSTi008-A, KAUSTi008-B, KAUSTi008-C, KAUSTi008-D, KAUSTi008-E, KAUSTi008-F, KAUSTi008-G)

Stem Cell Research, 2021
Klinefelter Syndrome (KS) is the most common X chromosome aneuploidy in males characterized by highly heterogeneous clinical manifestations including a subtle cognitive impairment and multisystemic disorders such as infertility, metabolic syndrome ...
Elisabetta Fiacco, Maryam Alowaysi, Veronica Astro, Antonio Adamo   +3 more
doaj   +1 more source

Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy

Frontiers in Genetics, 2021
Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are two common kinds of neuromuscular disorders sharing various similarities in clinical manifestations.
Yu Xia, Yijie Feng, Lu Xu, Xiaoyang Chen, Feng Gao, Shanshan Mao   +5 more
doaj   +1 more source

Effects of selection and mutation on epidemiology of X-linked genetic diseases

Mathematical Biosciences and Engineering, 2017
The epidemiology of X-linked recessive diseases, a class of genetic disorders, is modeled with a discrete-time, structured, non linear mathematical system. The model accounts for both de novo mutations (i.e., affected sibling born to unaffected parents) and selection (i.e., distinct fitness rates depending on individual's health conditions).
Verrilli F, Kebriaei H, Glielmo L, Corless M, Del Vecchio C   +4 more
openaire   +5 more sources

Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy. [PDF]

, 2019
Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child.
Gandini, Maria A, Lerner, Jason, Matsumoto, Joyce, Mitchell, Wendy G, Pierson, Tyler Mark, Souza, Ivana A, Zamponi, Gerald W, Zhang, Fang-Xiong   +7 more
core   +3 more sources

The power and the promise of CRISPR/Cas9 genome editing for clinical application with gene therapy

Journal of Advanced Research, 2022
Background: Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) is derived from the bacterial innate immune system and engineered as a robust gene-editing tool.
Ning Guo, Ji-Bin Liu, Wen Li, Yu-Shui Ma, Da Fu   +4 more
doaj   +1 more source

Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis

Bratislava Medical Journal, 2015
Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH) to couples requiring preimplantation genetic diagnosis (PGD) of X-linked diseases. However, this process results in discarding all male embryos and is not able to distinguish a carrier or healthy female ...
I, Borgulova, M, Putzova, I, Soldatova, L, Krautova, L, Pecnova, J, Mika, R, Kren, P, Potuznikova, D, Stejskal   +8 more
openaire   +3 more sources

MicroRNAs in age-related diseases [PDF]

, 2013
Aging is a complex process that is linked to an increased incidence of major diseases such as cardiovascular and neurodegenerative disease, but also cancer and immune disorders.
Jazbutyte V, Olivieri F, Pierluigi Nicotera, Stefanie Dimmeler, Yang J   +4 more
core   +1 more source

Genetic Analysis of a Family with Mohr-Tranebjaerg Syndrome

罕见病研究, 2023
Objective Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked neurodegenerative disorder which usually involving hearing impairment, gradual dystonia, and other symptoms.
GAO Ruzhen, FAN Yue, FAN Xinmiao, YANG Tengyu, SONG Wenjie, CHEN Xiaowei   +5 more
doaj   +1 more source