Results 61 to 70 of about 19,643 (207)

FindingFMR1mosaicism in Fragile X syndrome [PDF]

Expert Review of Molecular Diagnostics, 2016
OBJECTIVE: Almost all patients with Fragile X Syndrome (FXS) exhibit a CGG repeat expansion (full mutation) in the Fragile Mental Retardation 1 gene (FMR1). Here, the authors report five unrelated males with FXS harboring a somatic full mutation/deletion mosaicism.
Gonçalves, Thaís Fernandez, dos Santos, Jussara Mendonça, Gonçalves, Andressa Pereira, Tassone, Flora, Mendoza-Morales, Guadalupe, Ribeiro, Márcia Gonçalves, Kahn, Evelyn, Boy, Raquel, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros   +9 more
openaire   +4 more sources

Plasma Proteomics Identifies Thousand‐and‐One–Amino Acid Kinase 3 as a Potential Biomarker of Rheumatoid Arthritis Activity and a Novel Therapeutic Target

Arthritis &Rheumatology, EarlyView.
Objective Bone destruction associated with active rheumatoid arthritis (RA) remains a major therapeutic challenge, with a lack of reliable molecular markers reflecting bone injury. This study aims to identify novel biomarkers linked to bone destruction in active RA through proteomic analysis, providing new strategies for precise monitoring and targeted
Pengfei Xin, Wenzhen Li, Xinyu A, Jun Shen, Xiaohui Meng, Yanqin Bian, Haihui Han, Zheng Xiang, Lei Ran, Songtao Sun, Jun Xie, Tao Yue, Qi Zhu, Xiaoming Zhang, Lu Xie, Lianbo Xiao   +15 more
wiley   +1 more source

Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence

Journal of Neurodevelopmental Disorders, 2017
Background The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study investigated attention to eye gaze
Jessica Klusek, Joseph Schmidt, Amanda J. Fairchild, Anna Porter, Jane E. Roberts   +4 more
doaj   +1 more source

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Acta Médica Portuguesa, 2021
Introduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic ...
Ana Raquel Neves, Ana Sofia Pais, Susana Isabel Ferreira, Vera Ramos, Maria João Carvalho, Alexandra Estevinho, Eunice Matoso, Fernanda Geraldes, Isabel Marques Carreira, Fernanda Águas   +9 more
doaj   +1 more source

Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels [PDF]

Journal of Neurodevelopmental Disorders, 2013
Abstract Background Fragile X syndrome is caused by the loss of FMRP expression due to methylation of the FMR1 promoter. Treatment of fragile X syndrome patients’ lymphoblastoid cells with 5-azadeoxycytidine results in demethylation of the promoter and reactivation of the gene.
Brendel, Cornelia, Mielke, Benjamin, Hillebrand, Merle, Gärtner, Jutta, Huppke, Peter   +4 more
openaire   +3 more sources

FMRpolyG accumulates in FMR1 premutation granulosa cells [PDF]

Journal of Ovarian Research, 2020
Abstract Background Fragile X premutation (Amplification of CGG number 55–200) is associated with increased risk for fragile X-Associated Premature Ovarian Insufficiency (FXPOI) in females and fragile X-associated tremor/ataxia syndrome (FXTAS) predominantly in males.
M. Friedman-Gohas, S. E. Elizur, O. Dratviman-Storobinsky, A. Aizer, J. Haas, H. Raanani, R. Orvieto, Y. Cohen   +7 more
openaire   +3 more sources

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

BMC Medical Genetics, 2007
Background The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre ...
D'Urso Michele, Chiurazzi Pietro, Laperuta Carmela, Miano Maria, Ursini Matilde   +4 more
doaj   +1 more source

Fragile X Messenger Ribonucleoprotein 1 (FMR1), a novel inhibitor of osteoblast/osteocyte differentiation, regulates bone formation, mass, and strength in young and aged male and female mice

Bone Research, 2023
Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene mutations lead to fragile X syndrome, cognitive disorders, and, in some individuals, scoliosis and craniofacial abnormalities. Four-month-old (mo) male mice with deletion of the FMR1 gene exhibit a mild
Padmini Deosthale, Julián Balanta-Melo, Amy Creecy, Chongshan Liu, Alejandro Marcial, Laura Morales, Julita Cridlin, Sylvia Robertson, Chiebuka Okpara, David J. Sanchez, Mahdi Ayoubi, Joaquín N. Lugo, Christopher J. Hernandez, Joseph M. Wallace, Lilian I. Plotkin   +14 more
doaj   +1 more source

FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles [PDF]

The Journal of Molecular Diagnostics, 2011
Fragile X syndrome (FXS) is caused by loss of the fragile X mental retardation gene protein product (FMRP) through promoter hypermethylation, which is usually associated with CGG expansion to full mutation size (>200 CGG repeats). Methylation-sensitive Southern blotting is the current gold standard for the molecular diagnosis of FXS.
David E, Godler, Howard R, Slater, Quang M, Bui, Michele, Ono, Freya, Gehling, David, Francis, David J, Amor, John L, Hopper, Randi, Hagerman, Danuta Z, Loesch   +9 more
openaire   +3 more sources