Results 41 to 50 of about 11,144,186 (305)

Rapid Genetic Analysis of X-Linked Chronic Granulomatous Disease by High-Resolution Melting [PDF]

The Journal of Molecular Diagnostics, 2010
High-resolution melting analysis was applied to X-linked chronic granulomatous disease, a rare disorder resulting from mutations in CYBB. Melting curves of the 13 PCR products bracketing CYBB exons were predicted by Poland's algorithm and compared with observed curves from 96 normal individuals.
Harry R, Hill, Nancy H, Augustine, Robert J, Pryor, Gudrun H, Reed, Joshua D, Bagnato, Anne E, Tebo, Jeffrey M, Bender, Brian M, Pasi, Javier, Chinen, I Celine, Hanson, Martin, de Boer, Dirk, Roos, Carl T, Wittwer   +12 more
openaire   +2 more sources

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

X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects [PDF]

, 2012
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults.
Aubourg, Patrick, Kemp, Stephan, Berger, Johannes   +2 more
core   +1 more source

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

, 2022
Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked, inherited genetic disease caused by a functional deficiency of lysosomal α-galactosidase, leading to the accumulation of glycosphingolipids in virtually all of the body ...
Bulanov, Nikolay, Filatova, Ekaterina, Alexey Moiseev, Victor Fomin, Moiseev, Alexey, Moiseev, Sergey, Germain, Dominique P., Ekaterina Filatova, Tao, Ekaterina, Dominique P. Germain, Ekaterina Tao, Fomin, Victor, Nikolay Bulanov, Sergey Moiseev   +13 more
core   +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

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

Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey

Clinical Genetics, 2023
Abstract Female carriers of X‐linked inherited retinal diseases (IRDs) are burdened with potentially passing their disease‐causing variant to future generations, as well as exhibiting signs of retinal disease themselves. This study aimed to investigate carriers' experiences of genetic testing, emotions relating to
Sena A. Gocuk, Thomas L. Edwards, Jasleen K. Jolly, Lauren N. Ayton   +3 more
openaire   +3 more sources

Deciphering the Genetic Code of Autoimmune Kidney Diseases

, 2023
Autoimmune kidney diseases occur due to the loss of tolerance to self-antigens, resulting in inflammation and pathological damage to the kidneys. This review focuses on the known genetic associations of the major autoimmune kidney diseases that result in
Kim Maree O’Sullivan, Oneli Kulatunge, Stephanie U-Shane Huang   +2 more
core   +1 more source