Results 71 to 80 of about 8,344 (152)

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

Startle Response in Women with the FMR1 Premutation and Risk for Anxiety Disorders [PDF]

, 2020
Background: The FMR1 premutation, which occurs when there is an expansion of 55 -200 repeats of the CGG trinucleotide on the FMR1 gene, is associated with an increased risk for anxiety disorders.
Lateef, Azalfa
core   +1 more source

Clinical and molecular correlates in fragile X premutation females

eNeurologicalSci, 2017
The prevalence of the fragile X premutation (55–200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes.
Poonnada Jiraanont, Stefan R. Sweha, Reem R. AlOlaby, Marisol Silva, Hiu-Tung Tang, Blythe Durbin-Johnson, Andrea Schneider, Glenda M. Espinal, Paul J. Hagerman, Susan M. Rivera, David Hessl, Randi J. Hagerman, Nuanchan Chutabhakdikul, Flora Tassone   +13 more
doaj   +1 more source

An Autopsy Case With Fragile X‐Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System

Neuropathology, Volume 46, Issue 2, April 2026.
ABSTRACT Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder characterized by a late onset and slow progression caused by a premutation (55–200 CGG repeat) in the fragile X mental retardation (FMR1) gene. Here, we report the case of a Japanese patient with FXTAS which is the first case autopsied in Japan. The patient was
Ayako Shioya, Kazuhiro Ishii, Taiki Sato, Masayuki Noguchi, Akira Tamaoka, Yuko Saito   +5 more
wiley   +1 more source

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

BMC Medical Genetics, 2018
Background Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion diseases.
Artur Beke, Henriett Piko, Iren Haltrich, Veronika Karcagi, Janos Rigo, Maria Judit Molnar, György Fekete   +6 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

Elevated FMR1 mRNA in premutation carriers is due to increased transcription [PDF]

, 2007
Carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene have levels of FMR1 mRNA that are elevated by as much as 10-fold in peripheral blood leukocytes and CNS tissue. The excess expanded-repeat mRNA, per se,
Hagerman, Paul J., Beilina, Alexandra, Beilina A., Glover, Kira, Glover K., Bentley D., Carosi C., Li, Lexin, Hagerman P. J., Tassone, Flora, Tassone F., Carosi, Chiara, Bentley, David, Li L., Bagni, Claudia, Tassone F., Beilina A., Carosi C., Albertosi S., Bagni C., Li L., Glover K., Bentley D., Hagerman P.J., Albertosi, Serena, Albertosi S.   +17 more
core   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, Volume 41, Issue 1, Page 70-83, January 2026.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Warburg effect linked to cognitive‐executive deficits in FMR1 premutation

, 2016
A 55-200 CGG repeat expansion in the 5'-UTR of the fragile X mental retardation 1 (FMR1) gene is known as a premutation. Some carriers are affected by the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian ...
Napoli, Eleonora, Azarang, Atoosa, Giulivi, Cecilia, Song, Gyu, Schneider, Andrea, Hagerman, Randi, Al Azaim Eldeeb, Marwa Abd, Tassone, Flora   +7 more
core   +1 more source