Results 81 to 90 of about 26,757 (246)

Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks [PDF]

, 2016
Typically disease-causing CAG/CTG repeats expand, but rare affected families can display high levels of contraction of the expanded repeat amongst offspring.
Abastado, Abeliovich, Acharya, Achiron, Alan E. Tomkinson, Amiel, Anderson, Arturo López Castel, Ashizawa, August B. Pearson, Axford, Aziz, Barnes, Brunner, Cami, Campbell, Carraway, Cereghini, Christopher E. Pearson, Chung, Clark, Cleary, Cleary, Cleary, Conley, Dean, Debrauwère, Dragileva, Du, Edelmann, Erdeniz, Erdile, Farrell, Fishel, Foiry, Freudenreich, Gagan B. Panigrahi, Genschel, Giordano, Goetz, Hashem, Haugen, Hay, Hou, Jackson, Jaworski, Kang, Kantartzis, Kleczkowska, Kovtun, Kow, Levin, Li, Lin, Liu, Lopez Castel, Lopez Castel, Lopez de Munain, Lu, Mackenney, Manley, Marcadier, Martorell, Masih, Mason, Matsumura, Meghan M. Slean, Miret, Miret, Nahhas, Nenguke, Norremolle, O'Hoy, Palombo, Panigrahi, Panigrahi, Panigrahi, Panigrahi, Parniewski, Pavlov, Pearson, Pearson, Petes, Prigent, Puymirat, Risinger, Romanova, Savouret, Savouret, Schmidt, Schneider, Schumacher, Schweitzer, Seriola, Sharp, Shelbourne, Slean, Srivatsan, Stillman, Stillman, Stillman, Tam, Tang, Tome, Tome, van den Broek, Vassilev, Westmoreland, Wheeler, Yang, Zhang   +110 more
core   +2 more sources

Long tract of untranslated CAG repeats is deleterious in transgenic mice. [PDF]

PLoS ONE, 2011
The most frequent trinucleotide repeat found in human disorders is the CAG sequence. Expansion of CAG repeats is mostly found in coding regions and is thought to cause diseases through a protein mechanism.
Ren-Jun Hsu, Kuang-Ming Hsiao, Min-Jon Lin, Chui-Yen Li, Li-Chun Wang, Luen-Kui Chen, Huichin Pan   +6 more
doaj   +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

RepeatOBserver: Tandem Repeat Visualisation and Putative Centromere Detection

Molecular Ecology Resources, EarlyView.
ABSTRACT Tandem repeats play an important role in centromere structure, subtelomeric regions, DNA methylation, recombination and the regulation of gene activity. Analysis of their distribution in genomes offers a potential means for predicting putative centromere locations, which continues to be a challenge for genome annotation.
Cassandra Elphinstone, Rob Elphinstone, Marco Todesco, Loren H. Rieseberg   +3 more
wiley   +1 more source

Tandemly repeated trinucleotides - comparative analysis.

Acta Biochimica Polonica, 2006
Characteristics of 64 possible tandem trinucleotide repeats (TSSR) from Homo sapiens (hs), Mus musculus (mm) and Rattus norvegicus (rn) genomes are presented. Comparative analysis of TSSR frequency depending on their repetitiveness and similarity of the TSSR length distributions is shown.
Piwowar, Monika, Meus, Jan, Piwowar, Piotr, Wiśniowski, Zdzisław, Stefaniak, Justyna, Roterman-Konieczna, Irena   +5 more
openaire   +5 more sources

Context Dependence of Trinucleotide Repeat Structures [PDF]

Biochemistry, 2010
Long repeated sequences of DNA and their associated secondary structure govern the development and severity of a significant class of neurological diseases. Utilizing the effect of base stacking on fluorescence quantum yield, 2-aminopurine substitutions for adenine previously demonstrated sequestered bases in the stem and exposed bases in the loop for ...
Courtney A. Barber, Natalya N. Degtyareva, Jeffrey T. Petty, Bidisha Sengupta   +3 more
openaire   +3 more sources

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
core   +2 more sources

Variation within the Huntington's disease gene influences normal brain structure. [PDF]

PLoS ONE, 2012
Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we
Mark Mühlau, Juliane Winkelmann, Dan Rujescu, Ina Giegling, Nikolaos Koutsouleris, Christian Gaser, Milan Arsic, Adolph Weindl, Maximilian Reiser, Eva M Meisenzahl   +9 more
doaj   +1 more source

Cannabidiol attenuates epileptic phenotype and increases survival in a mouse model of developmental and epileptic encephalopathy type 1

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathy type 1 (DEE1) is a rare drug‐resistant pediatric epilepsy caused by trinucleotide repeat expansions in the X‐linked ARX gene, leading to elongation of the first polyalanine tract. It presents with early onset tonic seizures or spasms, developmental and cognition delay, and high risk of ...
Lucia Verrillo, Fabio Arturo Iannotti, Denise Drongitis, Katiuscia Martinello, Loredana Poeta, Adriano Barra, Gaetano Terrone, Sergio Fucile, Vincenzo Di Marzo, Maria Giuseppina Miano   +9 more
wiley   +1 more source

Solitary oil‐collecting bee in cities: Habitat suitability and lack of population structuring in Centris analis

Insect Conservation and Diversity, EarlyView.
Lack of genetic population structure in urban populations of Centris analis. Low morphological differentiation across four phytogeographical regions in Brazil. Monogyny‐monandry mating system in C. analis. Abstract The decline of insect populations worldwide has raised concerns about the negative impact on ecosystem services, particularly pollination ...
Leandro Pereira Rezende, Cintia Akemi Oi, Katia Maria Ferreira, Isabel Cristina de Godoy, Marco Antonio Del Lama   +4 more
wiley   +1 more source