Results 71 to 80 of about 4,503 (204)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Differential increases of specific FMR1 mRNA isoforms in premutation carriers [PDF]

, 2015
BackgroundOver 40% of male and ∼16% of female carriers of a premutation FMR1 allele (55-200 CGG repeats) will develop fragile X-associated tremor/ataxia syndrome, an adult onset neurodegenerative disorder, while about 20% of female carriers will develop ...
Tang, Hiu-Tung, Yrigollen, Carolyn M, Raske, Chris, Loomis, Erick W, Tassone, Flora, Pretto, Dalyir I, Durbin-Johnson, Blythe, Hagerman, Paul J, Eid, John S   +8 more
core   +1 more source

Neuropathic features in fragile X premutation carriers [PDF]

American Journal of Medical Genetics Part A, 2006
AbstractFragile X‐associated tremor/ataxia syndrome (FXTAS) is a progressive neurological condition occurring in fragile X premutation carriers, predominantly males, and resulting in CNS dysfunction including tremor, ataxia, Parkinsonism, and cognitive decline. Neuropathic signs have also been described.
Elizabeth, Berry-Kravis, Christopher G, Goetz, Maureen A, Leehey, Randi J, Hagerman, Lin, Zhang, Lexin, Li, Danh, Nguyen, Deborah A, Hall, Nicole, Tartaglia, Jennifer, Cogswell, Flora, Tassone, Paul J, Hagerman   +11 more
openaire   +2 more sources

FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation

Frontiers in Genetics, 2018
Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55–200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40.
Emily G. Allen, Anne Glicksman, Nicole Tortora, Krista Charen, Weiya He, Ashima Amin, Heather Hipp, Lisa Shubeck, Sarah L. Nolin, Stephanie L. Sherman   +9 more
doaj   +1 more source

Mutation in MSH5 Causes Primary Ovarian Insufficiency and Successful Therapeutic Intervention by In Vitro Fertilisation

Journal of Cellular and Molecular Medicine, Volume 30, Issue 9, May 2026.
ABSTRACT Primary ovarian insufficiency (POI) is a genetically heterogeneous disorder characterised by cessation of menstruation before the age of 40 years with elevated levels of follicle‐stimulating hormone. Germline variants in the MSH5 gene cause POI. In this study, we investigated a Han Chinese family with POI.
Bin Mao, Lili Zhang, Xiaodong Zhao, Xiaojuan Xu, Hongfang Liu, Dexiao Song, Peiqiang Li, Santasree Banerjee, Xiaoling Ma, Yongxiu Yang   +9 more
wiley   +1 more source

When R‐Loops Go Awry: Genome Instability and Neurological Diseases

European Journal of Neuroscience, Volume 63, Issue 8, April 2026.
DNA normally exists as a double helix formed by two complementary strands. During gene transcription, however, one strand of DNA can bind to RNA, causing the other DNA strand to be displaced. This creates a structure called an R‐loop. R‐loops play important roles in normal cellular processes such as gene expression, DNA replication, and transcription ...
Nur Rasyiqin Rasli, Yu Katsuyama
wiley   +1 more source

Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers

Journal of Neurodevelopmental Disorders, 2019
Background Individuals with premutation alleles of the fragile X mental retardation 1 (FMR1) gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) during aging.
Zheng Wang, Pravin Khemani, Lauren M. Schmitt, Su Lui, Matthew W. Mosconi   +4 more
doaj   +1 more source

Effect of AGG Interruptions on FMR1 Maternal Transmissions

Frontiers in Molecular Biosciences, 2020
There are four classes of CGG repeat alleles in the FMR1 gene: normal alleles have up to 44 repeats; patients with Fragile X Syndrome have more than 200 repeats; those between 55 and 200 CGGs are considered FMR1 premutation alleles, because they are ...
Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Hiart Maortua, Hiart Maortua, Ana Belén de la Hoz, Ana Belén de la Hoz, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Silvia Izquierdo-Álvarez, María Isabel Tejada, María Isabel Tejada, María Isabel Tejada   +15 more
doaj   +1 more source

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1)

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Camille Richagneux, Anton Granzhan
wiley   +1 more source

Broad autism spectrum and obsessive–compulsive symptoms in adults with the fragile X premutation [PDF]

, 2016
Objective: Clinical observations and a limited number of research studies provide evidence that the fragile X premutation may confer risk for autism, executive dysfunction, and psychopathology.
Schneider, A, R. J. Hagerman (2861726), Rivera, SM, F. Tassone (2861720), Johnston, C, Hagerman, RJ, S. Sansone (5740), Hessl, D, C. Johnston (2861729), S. M. Rivera (2861717), D. Hessl (2861714), A. Schneider (2315101), Tassone, F, Ferrer, E, E. Ferrer (2861723), Sansone, S   +15 more
core   +1 more source