Results 51 to 60 of about 554,004 (364)

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

Mild phenotype in an adult male with X-linked adrenoleukodystrophy – case report

, 2015
Key Clinical Message X-linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of ...
Jørum, Ellen, Wanders, Ronald J. A., Horn, Morten A., Mikaelsen, Karin B. M., Retterstøl, Lars, Ferdinandusse, Sacha, Tallaksen, Chantal M. E., Mellgren, Svein I.   +7 more
core   +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

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-Related Disorders: an Evolving Web of Heritable Autoimmune Diseases

Current opinion in pediatrics, 2013
Purpose of review To summarize recent progress in our understanding of Immune Dysregulation, Polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders.
J. Verbsky, T. Chatila
semanticscholar   +1 more source

Pervasive Sharing of Genetic Effects in Autoimmune Disease [PDF]

, 2011
Genome-wide association (GWA) studies have identified numerous, replicable, genetic associations between common single nucleotide polymorphisms (SNPs) and risk of common autoimmune and inflammatory (immune-mediated) diseases, some of which are shared ...
Klareskog, Lars, Benjamin F Voight, Worthington, Jane, Abecasis, Gonçalo R., David A van Heel, Judy Cho, Klareskog Lars, AbecasisGonç, Gonçalo R., Graham Robert R., van Heel, David A., Hansen, Kasper Lage, Graham, Robert R., Lage, Kasper, David A. van Heel, Hafler, David A., Benjamin M. Neale, Gregersen, Peter K., Gregersen, Peter, James T. Elder, Behrens Timothy, David A. Hafler, Siminovitch, Katherine A., null null, Philip L De Jager, Wijmenga, Cisca, Elizabeth Rossin, Cisca Wijmenga, David A Hafler, Chris Cotsapas, Siminovitch, KA, Kasper Lage, Mark J. Daly, Elder James T., Wallace Chris, John A. Todd, Hafler, DA, Rossin Elizabeth, Cotsapas, C, Gregersen Peter, Cotsapas, Chris, Klareskog, L, John A Todd, Behrens, Timothy, Rich Stephen S., Rich, Stephen S., Timothy Behrens, Todd, JA, Heel, David A. van, Abecasis Gonçalo R., Philip L. De Jager, Wallace, C, Neale, BM, Voight, BF, Voight, Benjamin F., Gonçalo R. Abecasis, Robert R. Graham, De Jager Philip L., Jeffrey C Barrett, Neale Benjamin M., Siminovitch Katherine A., Chris Wallace, Katherine A. Siminovitch, Benjamin M Neale, Robert R Graham, Cho, Judy, Jager, Philip L. De, Barrett Jeffrey C., Daly Mark J., Cotsapas Chris, Gonçalo R Abecasis, Rich, SS, van Heel David A., Wijmenga Cisca, Rossin, E, Graham, RR, Worthington, J, Gregersen, P, Barrett, Jeffrey C., Elder, James T., Jeffrey C. Barrett, Peter Gregersen, Katherine A Siminovitch, Lage Kasper, Wijmenga, C, Neale, Benjamin M., Wallace, Chris, Hafler David A., Behrens, T, James T Elder, Mark J Daly, Todd John A., Abecasis, GR, Elder, JT, Wijmenga, Cisca; id_orcid, Lars Klareskog, De Jager, PL, Voight Benjamin F., Benjamin F. Voight, FOCiS Network Consortia, Jane Worthington, Stephen S. Rich, Cho, J, FOCiS Network of Consortia, Cho Judy, Stephen S Rich, Barrett, JC, van Heel, DA, Todd, John A., Daly, Mark J., Daly, MJ, Worthington Jane, Rossin, Elizabeth, Lage, K, De Jager, Philip L.   +113 more
core   +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

Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency

, 2021
Mutations of the IL2RG gene, which encodes for the interleukin-2 receptor common gamma chain (γC, CD132), can lead to X-linked severe combined immunodeficiency (X-SCID) associated with a T−B+NK− phenotype as a result of dysfunctional ...
Paul G. Gratz, Elke Malenke, Tina Renno, Markus Mezger, Hans Peter Gratz, Rupert Handgretinger, Karin Schilbach-Stückle, Justin S. Antony, Yujuan Hou, Derya Güngör, Guillermo Ureña-Bailén, Daniel A. Mader   +11 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

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

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