Results 41 to 50 of about 944,231 (329)

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

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

X-Linked Sensorineural Hearing Loss: A Literature Review

Current Genomics, 2017
Sensorineural hearing loss is a very diffuse pathology (about 1/1000 born) with several types of transmission. X-linked hearing loss accounts for approximately 1% - 2% of cases of non-syndromic forms, as well as for many syndromic forms.
V. Corvino, P. Apisa, Rita Malesci, Carla Laria, G. Auletta, A. Franzè   +5 more
semanticscholar   +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

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

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Skeletal Muscle, 2015
Congenital and inherited myopathies in dogs are faithful models of human muscle diseases and are being recognized with increasing frequency. In fact, canine models of dystrophin deficient muscular dystrophy and X-linked myotubular myopathy are of ...
D. Shelton, Branden E. Rider, G. Child, S. Tzannes, Ling T Guo, B. Moghadaszadeh, E. Troiano, B. Haase, C. Wade, A. Beggs   +9 more
semanticscholar   +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

Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review [PDF]

, 2018
Atypical femoral fractures (AFFs) are uncommon and have been associated particularly with long-term antiresorptive therapy, including bisphosphonates. Although the pathogenesis of AFFs is unknown, their identification in bisphosphonate-naïve individuals ...
Ebeling, P. (Peter), Laarschot, D.M. (Denise) van de, Milat, F. (Frances), Nguyen, Hanh H., Verkerk, A.J.H.M. (Annemieke), Zillikens, M.C. (Carola)   +5 more
core   +3 more sources

Hepatitis C Virus and Hepatocellular Carcinoma: Pathogenetic Mechanisms and Impact of Direct-Acting Antivirals [PDF]

, 2018
INTRODUCTION: Globally, between 64 and 103 million people are chronically infected with Hepatitis C virus (HCV), with more than 4.6 million people in the United States and is associated with more than 15.000 deaths annually.
Petruzziello, Arnolfo, Pinacchio, Claudia, Scheri, Giuseppe Corano, Schietroma, Ivan, Statzu, Maura, Vullo, Vincenzo   +5 more
core   +1 more source