Results 51 to 60 of about 10,200 (202)

Histone Deacetylase Complexes Promote Trinucleotide Repeat Expansions

PLoS Biology, 2012
Expansions of DNA trinucleotide repeats cause at least 17 inherited neurodegenerative diseases, such as Huntington's disease. Expansions can occur at frequencies approaching 100% in affected families and in transgenic mice, suggesting that specific cellular proteins actively promote (favor) expansions.
Olive Gleeson, Aisling Frizzell, Kim Debacker, Tony M. Mertz, Robert S. Lahue, Lucy Kirkham-McCarthy   +5 more
openaire   +5 more sources

Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy. [PDF]

PLoS Genetics, 2011
More than 20 human neurological and neurodegenerative diseases are caused by simple DNA repeat expansions; among these, non-coding CTG repeat expansions are the basis of myotonic dystrophy (DM1).
Zhenming Yu, Xiuyin Teng, Nancy M Bonini
doaj   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

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

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
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
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

Annals of Neurology, EarlyView.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl, Jun Yi Wang, Glenda Espinal, Ellery Santos, Flora Tassone, Randi J. Hagerman, Susan M. Rivera   +6 more
wiley   +1 more source

Transferability, Reproducibility and Sensitivity of Mutation Quantification by Duplex Sequencing

Environmental and Molecular Mutagenesis, EarlyView.
ABSTRACT Duplex Sequencing (DS) is an ultra‐accurate, error‐corrected next generation sequencing (ecNGS) technology for mutation analysis. A working group (WG) within Health and Environmental Sciences Institute's Genetic Toxicology Technical Committee is investigating the suitability of ecNGS for regulatory mutagenicity testing, using DS as a model ...
Shaofei Zhang, Barbara L. Parsons, Devon Fitzgerald, Anne Ashford, James Todd Auman, Tao Chen, Annette Dodge, Azeddine Elhajouji, Lena Pfaller, Shawn Harris, Jake Higgins, Cheryl A. Hobbs, Francesco Marchetti, Matthew J. Meier, Meagan B. Myers, Jesse Salk, Rebecca Sahroui, David Schuster, Raja Settivari, Stephanie L. Smith‐Roe, Carole L. Yauk, Jian Yan, Andrew Williams, Connie L. Chen   +23 more
wiley   +1 more source

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene

Molecular and Cellular Probes, 2016
Dystrophinopathies are allelic X-linked myopathies caused by large deletions/duplications or small lesions along the DMD gene. An unexpected dynamic trinucleotide (GAA) expansion, ranging from ∼59 to 82 pure GAA repeats, within the DMD intron 62, was revealed to segregate through three family generations.
Sophia Kitsiou-Tzeli, Maria Svingou, Pelagia Vorgia, Emmanuel Kanavakis, Emmanuel Kanavakis, Dimitris Petichakis, George K. Papadimas, Roser-Maria Pons, Artemis Gika, Christalena Sofocleous, Christalena Sofocleous, Kyriaki Kekou   +11 more
openaire   +3 more sources

Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening [PDF]

Clinical Chemistry, 2016
Abstract BACKGROUND Fragile X syndrome (FXS, OMIM #300624) is an X-linked condition caused by trinucleotide repeat expansions in the 5′ UTR (untranslated region) of the fragile X mental retardation 1 (FMR1) gene. FXS testing is commonly performed in expanded carrier screening and has been proposed for
Imran S. Haque, Eric A. Evans, Kristjan Eerik Kaseniit, Alex F. Robertson, Mark R. Theilmann   +4 more
openaire   +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

Movement Disorders, EarlyView.
Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath, Sanna Huhtaniska, Juulia Ellonen, Tytti Pokka, Salla M. Kangas, Jukka Moilanen, Heli Helander, Hanna Kallankari, Jonna Komulainen‐Ebrahim, Päivi Vieira, Elisa Rahikkala, Renzo Guerrini, Minna Honkila, Terhi S. Ruuska, Reetta Hinttala, Maria Suo‐Palosaari, Jussi‐Pekka Tolonen, Johanna Uusimaa   +17 more
wiley   +1 more source