Results 71 to 80 of about 28,343 (239)

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core  

Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome. [PDF]

, 2016
BACKGROUND: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from the loss of function of the fragile X mental retardation 1 (FMR1) gene. The molecular pathways associated with FMR1 epigenetic silencing are
Brasa, Sarah, Chibout, Salah-Dine, Decker, Jerry, Gasparini, Fabrizio, Gomez-Mancilla, Baltazar, Grenet, Olivier, Hahne, Florian, He, Yunsheng, Jacquemont, Sebastien, Johnson, Keith, Manzella, Liliana, Mccormack, Christine, Moggs, Jonathan, Peters, Thomas, Rozenberg, Izabela, Terranova, Remi, Zollinger, Tulipan   +16 more
core   +7 more sources

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

Epigenetic mechanisms and therapeutic innovations in chronic pain‐associated neuropsychiatric co‐morbidities

British Journal of Pharmacology, EarlyView.
Abstract Chronic pain, marked by nociceptive sensitization and maladaptive neuroplasticity, affects 30% of the global population with escalating socioeconomic burdens. Epidemiological data show a 2‐3‐fold increase in neuropsychiatric co‐morbidities among individuals with chronic pain, where epigenetic dysregulation serves as a key mechanism linking ...
Kai Zhang, Sijia Zhu, Na Xing, Zhen Zhou, Jiayi Chen, Tianen Si, Mingrui Li, Lin Jia, Yousef Rastegar‐Kashkooli, Tom J. Wang, Wei Zhu, Jing Li, Chao Jiang, Junmin Wang, Moxin Wu, Xiaoping Yin, Weidong Zang, Jian Wang, Songxue Su   +18 more
wiley   +1 more source

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome. [PDF]

, 2020
BackgroundThe purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (
Abbeduto, Leonard, Banasik, Amy, Bullard, Lauren, Hagerman, Randi, Kim, Kyoungmi, McDuffie, Andrea, Nguyen, Vivian, Potter, Laura A, Potter, Sarah Nelson, Tassone, Flora, Thurman, Angela John   +10 more
core  

Comparative (computational) analysis of the DNA methylation status of trinucleotide repeat expansion diseases [PDF]

, 2013
Copyright © 2013 Mohammadmersad Ghorbani et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is ...
Ghorbani, M, Payne, A, Pook, MA, Taylor, SJE   +3 more
core   +4 more sources

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 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

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

Clinical Genetics, EarlyView.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin, Claudine Rieubland, Thierry Nouspikel   +2 more
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