Results 21 to 30 of about 379,319 (247)

Zebrafish Models of Autosomal Dominant Ataxias

Cells, 2021
Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination.
Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez   +4 more
doaj   +1 more source

ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene

Computational and Structural Biotechnology Journal, 2020
ATP7A is a critical copper transporter involved in Menkes Disease, Occipital horn Syndrome and X-linked distal spinal muscular atrophy type 3 which are X linked genetic disorders.
Aditi Mhaske, K.V. Dileep, Mukesh Kumar, Mukta Poojary, Kavita Pandhare, Kam Y.J. Zhang, Vinod Scaria, B.K. Binukumar   +7 more
doaj   +1 more source

Long noncoding RNA XIST: Mechanisms for X chromosome inactivation, roles in sex-biased diseases, and therapeutic opportunities

Genes and Diseases, 2022
Sexual dimorphism has been reported in various human diseases including autoimmune diseases, neurological diseases, pulmonary arterial hypertension, and some types of cancers, although the underlying mechanisms remain poorly understood.
Jianjian Li, Zhe Ming, Liuyi Yang, Tingxuan Wang, Gaowen Liu, Qing Ma   +5 more
doaj   +1 more source

Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males

Haematologica, 2007
All males in two generations of a Hungarian family died of interstitial pneumonia. History and records suggested X-linked hyper-IgM syndrome (X-HIGM). DNA sequencing of a female carrier revealed a c.
Melinda Erdos, Krisztina Alapi, László Maródi   +2 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

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

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

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

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