Results 31 to 40 of about 748 (132)

Modeling fragile X-associated primary ovarian insufficiency (FXPOI) via ectopically expressed CGG99 repeats [PDF]

Fertility and Sterility, 2018
K.E. Shelly, N. Candelaria, D. Nelson
exaly   +2 more sources

Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation. [PDF]

Genes (Basel), 2022
Fragile X-associated primary ovarian insufficiency (FXPOI) is characterized by oligo/amenorrhea and hypergonadotropic hypogonadism and is caused by the expansion of the CGG repeat in the 5′UTR of Fragile X Mental Retardation 1 (FMR1). Approximately
Nguyen XP, Vilkaite A, Messmer B, Dietrich JE, Hinderhofer K, Schäkel K, Strowitzki T, Rehnitz J.   +7 more
europepmc   +2 more sources

An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System. [PDF]

Neuropathology
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
Shioya A, Ishii K, Sato T, Noguchi M, Tamaoka A, Saito Y.   +5 more
europepmc   +2 more sources

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20-75 Years of Age. [PDF]

Am J Med Genet B Neuropsychiatr Genet
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Klusek J, Jenner L, Hogan AL, Friedman L, Berry-Kravis E, Tassone F, Adayev T, Fairchild AJ, Roberts JE.   +8 more
europepmc   +2 more sources

Use of Machine Learning to Identify Markers of Risk for Fragile X-Associated Tremor/Ataxia Syndrome: A Preliminary Analysis. [PDF]

Ann Neurol
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Gupta C, Poudel A, Wang JY, Hagerman R, Espinal G, Famula J, Schneider A, Tassone F, Rivera SM, Chuah CN, Hessl D.   +10 more
europepmc   +2 more sources

Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers

Scientific Reports, 2021
FMR1 premutation (55–200 CGG repeats) results in fragile X-associated primary ovarian insufficiency (FXPOI). We evaluated expression levels of folliculogenesis-related mediators, follicle-stimulating hormone (FSH) receptor and anti-Mullerian hormone (AMH)
Moran Friedman-Gohas, Raoul Orvieto, Abigael Michaeli, Adva Aizer, Michal Kirshenbaum, Yoram Cohen   +5 more
doaj   +1 more source

Tophaceous gout of the nose in a male FMR1 premutation carrier

Clinical Case Reports, Volume 10, Issue 11, November 2022., 2022
This is the first documentation of immune dysregulation manifesting as uncontrolled gout in a male FXTAS premutation carrier. There is a need for further investigation of immune‐mediated disorders in male FXTAS carriers. Abstract Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this
Si Jie Tang, Shanthi Giri, Nima Pahlavan, Sophia H. Han, Ellery R. Santos, Glenda Espinal, Ramkumar Aishworiya, Andrea Schneider, David Hessl, Susan M. Rivera, Randi J. Hagerman   +10 more
wiley   +1 more source

X‐Linked Parkinsonism: Phenotypic and Genetic Heterogeneity

Movement Disorders, Volume 36, Issue 7, Page 1511-1525, July 2021., 2021
Abstract X‐linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed a complex underlying panorama, including a spectrum of disorders in which parkinsonism is variably associated with additional neurological and non‐neurological signs ...
Giulia Di Lazzaro, Francesca Magrinelli, Carlos Estevez‐Fraga, Enza M. Valente, Antonio Pisani, Kailash P. Bhatia   +5 more
wiley   +1 more source

Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center

Molecular Genetics &Genomic Medicine, Volume 9, Issue 7, July 2021., 2021
The present study explored the feasibility of FXS carrier screening during prenatal diagnosis for those who were not offered screening early in pregnancy or prior to conception. Implementation of FXS carrier screening during prenatal diagnosis may be considered for the need to increase screening for FXS.
Hui Xi, Wanqin Xie, Jing Chen, Wanglan Tang, Xiuli Deng, Hua Li, Ying Peng, Dan Wang, Shuting Yang, Yanan Zhang, Ranhui Duan, Junqun Fang, Hua Wang   +12 more
wiley   +1 more source

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic. [PDF]

Ann Clin Transl Neurol
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Greco G, Motta C, Marchionni E, D'Apice MR, Carrese C, Novelli G, Martorana A, Bonomi CG.   +7 more
europepmc   +2 more sources