Results 41 to 50 of about 17,892,622 (135)

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

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review

Frontiers in Psychiatry, 2021
FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Conxita Caro-Benito, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga   +9 more
doaj   +1 more source

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation

Scientific Reports, 2022
The fragile X mental retardation (FMR1) gene contains an expansion-prone CGG repeat within its 5′ UTR. Alleles with 55–200 repeats are known as premutation (PM) alleles and confer risk for one or more of the FMR1 premutation (PM) disorders that include ...
Ye Hyun Hwang, Bruce Eliot Hayward, Marwa Zafarullah, Jay Kumar, Blythe Durbin Johnson, Peter Holmans, Karen Usdin, Flora Tassone   +7 more
doaj   +1 more source

FMR1 Premutation Carrier Frequency in Patients Undergoing Routine Population-Based Carrier Screening: Insights Into the Prevalence of Fragile X Syndrome, Fragile X-Associated Tremor/Ataxia Syndrome, and Fragile X-Associated Primary Ovarian Insufficiency in the United States [PDF]

Obstetrical & Gynecological Survey, 2011
Fragile X syndrome is caused by expansion and methylation of a CGG tract in the 5' untranslated region of the FMR1 gene. The estimated frequency of expanded alleles (≥55 repeats) in the United States is 1:257-1:382, but these estimates were not calculated from unbiased populations. We sought to determine the frequency of fragile X syndrome premutation (
Feras M, Hantash, Dana M, Goos, Beryl, Crossley, Ben, Anderson, Ke, Zhang, Weimin, Sun, Charles M, Strom   +6 more
openaire   +2 more sources

STUDY OF PRIMORDIAL FOLLICLE, CORPORA LUTEA AND Fmr1 mRNA LEVELS FROM OVARIUM OF Fmr1 GENE PREMUTATION MICE [PDF]

, 2010
Background : The FMR1 gene involves in fragile X-associated disorders (FAD), including the fragile X mental retardation syndrome, primary ovarian insufficiency (POI) and Fragile X associated tremor/ataxia syndrome.
Santoso, Santoso
core   +1 more source

FMR1 gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India

Advanced Genetics, 2021
Fragile X syndrome is the most common genetic cause of intellectual disability (ID) and is also well known to have a role in primary ovarian insufficiency (POI) and fragile X‐associated tremor ataxia syndrome (FXTAS) that expresses across generations ...
Indhumathi Nagarathinam, Samuel S. Chong, Thelma B. K., Jeffrey Justin Margret, Viswanathan Venkataraman, Karthikeyen Natarajan Padmavathy, C. R. Srikumari Srisailapathy   +6 more
doaj   +1 more source

The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based? [PDF]

, 2020
The FMR1 gene contains a polymorphic CGG trinucleotide sequence within its 5’ untranslated region. More than 200 CGG repeats (termed a full mutation) underlie the severe neurodevelopmental condition fragile X syndrome, while repeat lengths that range ...
Anderson, Richard A, Rosario, Roseanne
core   +1 more source

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene [PDF]

, 2016
Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years.
Mercedes Télez, Criado, Begoña, Barrenetxea Ziarrusta, Gorka, Huerta, Iratxe, Gorka Barrenetxea, Isabel Arrieta, Iratxe Huerta, Barasoain Hernandez, Maitane, Télez, Mercedes, Begoña Criado, Maitane Barasoain, Arrieta Saez, María Isabel   +11 more
core   +1 more source

Fragile X- associated Neuropsychiatric Disorders: A Case Report [PDF]

, 2019
Mutations in the Fragile X Mental Retardation 1 (FMR1) gene create a spectrum of developmental disorders in children in addition to neurodegenerative problems in older populations. Two types of mutations are recognized in the FMR1 gene. The full mutation
Tan, Maria Melinda, Hagerman, Randi J, Dy, Jeanne Barbara, Tassone, Flora, Salcedo-Arellano, Maria Jimena   +4 more
core   +4 more sources

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

, 2018
Objective: To determine frequency of fragile X associated premature ovarian insufficiency (FXPOI) among Turkish premutation ...
Simsek-Kiper, Pelin Ozlem, Boduroglu, Koray, Urel-Demir, Gizem, Tuncbilek, ERGÜL, Akgun-Dogan, Ozlem, ALİKAŞİFOĞLU, MEHMET, ÜTİNE, GÜLEN EDA, Alanay, YASEMİN, AKTAŞ, Dilek   +8 more
core   +1 more source