Results 71 to 80 of about 39,855 (249)

Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy.

Investigative Ophthalmology and Visual Science, 2015
PURPOSE To analyze the expansion of CTG18.1 allele associated with Fuchs' corneal dystrophy (FCD) in our large cohort of late-onset FCD cases. METHODS CTG repeats within the CTG18.1 allele were estimated by short tandem repeat (STR) and triplet primed ...
S. Vasanth, A. Eghrari, Briana C. Gapsis, Jiangxia Wang, Nicolas F. Haller, W. Stark, N. Katsanis, S. Riazuddin, J. Gottsch   +8 more
semanticscholar   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source

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

Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]

, 2013
Copyright © 2013 Chiranjeevi Sandi 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 properly ...
Al-Mahdawi, S, Pook, MA, Sandi, C
core   +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

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

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

Slipped-CAG DNA binding small molecule induces trinucleotide repeat contractions in vivo

Nature Genetics, 2020
In many repeat diseases, such as Huntington’s disease (HD), ongoing repeat expansions in affected tissues contribute to disease onset, progression and severity.
M. Nakamori, G. Panigrahi, Stella Lanni, Terence Gall-Duncan, H. Hayakawa, Hana Tanaka, Jennifer Luo, Takahiro Otabe, Jinxing Li, Akihiro Sakata, Marie-christine Caron, Niraj R. Joshi, Tanya K. Prasolava, K. Chiang, J. Masson, M. Wold, Xiaoxiao Wang, Marietta Y. W. T. Lee, J. Huddleston, Katherine M. Munson, S. Davidson, M. Layeghifard, Lisa-Monique Edward, R. Gallon, M. Santibanez-Koref, A. Murata, M. Takahashi, E. Eichler, A. Shlien, K. Nakatani, H. Mochizuki, C. E. Pearson   +31 more
semanticscholar   +1 more source

Neuroimaging Biomarkers for Friedreich Ataxia: A Cross‐Sectional Analysis of the TRACK‐FA Study

Annals of Neurology, EarlyView.
Objective We aimed to quantify differences in the brain and spinal cord between Friedreich ataxia and controls, stratified by age and disease stage, including for the first time in young children. Methods TRACK‐FA is the largest prospective, longitudinal, multi‐modal neuroimaging study in Friedreich ataxia to date.
Nellie Georgiou‐Karistianis, Louise A. Corben, Eric F. Lock, Helena Bujalka, Isaac Adanyeguh, Manuela Corti, Dinesh K. Deelchand, Martin B. Delatycki, Imis Dogan, Jennifer Farmer, Marcondes C. França Jr., Anthony S. Gabay, William Gaetz, Ian H. Harding, James Joers, Michelle A. Lax, Jiakun Li, David R. Lynch, Thomas H. Mareci, Alberto R. M. Martinez, Massimo Pandolfo, Marina Papoutsi, Richard G. Parker, Kathrin Reetz, Thiago J.R. Rezende, Timothy P. Roberts, Sandro Romanzetti, David A. Rudko, Susmita Saha, Jörg B. Schulz, Sub H. Subramony, Veena G. Supramaniam, Christophe Lenglet, Pierre‐Gilles Henry   +33 more
wiley   +1 more source

Diverse Mechanisms of Trinucleotide Repeat Disorders: An Exploration of Fragile X Syndrome and Huntington’s Disease [PDF]

, 2013
Trinucleotide repeat disorders are an umbrella group of genetic diseases that have been well described clinically for a long time; however, the scientific community is only beginning to understand their molecular basis.
Strobel, Cara
core   +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