Results 71 to 80 of about 507 (138)

The flash-small-pool PCR: how to transform blotting and numerous hybridization steps into a simple denatured PCR

BioTechniques, 2018
Numerous human diseases are associated with abnormal expansion of unstable trinucleotide repeats (TNRs). TNR instability mechanisms are complex, and remain only partially understood.
Elodie Dandelot, Geneviève Gourdon
doaj   +1 more source

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?

Journal of Neuroscience Research, Volume 104, Issue 8, August 2026.
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Jenny Lange, Erica Zhao, Ellie O'Connell, Olivia Gillham, Amy McTague   +4 more
wiley   +1 more source

Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases

Biomolecules
Dynamic mutations in some human genes containing trinucleotide repeats are associated with severe neurodegenerative and neuromuscular disorders—known as Trinucleotide (or Triplet) Repeat Expansion Diseases (TREDs)—which arise when the repeat number of ...
Feng Pan, Pengning Xu, Christopher Roland, Celeste Sagui, Keith Weninger   +4 more
doaj   +1 more source

An Ultrastructural and Proteomic Analysis in DM1 Young Adults' Myoblasts: Stressed RER and Mitochondrial Dysfunction Involvement

Journal of Cellular and Molecular Medicine, Volume 30, Issue 16, August 2026.
ABSTRACT Myotonic dystrophy type 1 (DM1) is a progressive muscular disorder caused by the expansion of CTG repeats in the 3′ UTR of the DMPK gene. Although the pathogenic mechanisms remain unclear, recent evidence suggests that activation of innate immune responses may contribute to disease progression. In this study, we examined the ultrastructure and
Renata Del Carratore, Alessandra Falleni, Margherita Bernardeschi, Giada Frenzilli, Michela Ripolone, Sabrina Salani, Filippo Geraci, Fabiana Miraglia, Cristina Del Seppia   +8 more
wiley   +1 more source

A trinucleotide repeat biosensor [PDF]

Nature Methods, 2005
A small-molecule ligand that binds to a (CAG)n hairpin repeat is the basis of a biosensor to detect repeat length, which may help diagnose trinucleotide repeat disease severity.
openaire   +1 more source

Autonomic Function in Fragile X Syndrome: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 8, Page 773-787, August 2026.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold, Sarah E. A. Eley, Damien Wright, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
wiley   +1 more source

Signatures of selection in mammalian clock genes with coding trinucleotide repeats: Implications for studying the genomics of high‐pace adaptation

Ecology and Evolution, 2017
Climate change is predicted to affect the reproductive ecology of wildlife; however, we have yet to understand if and how species can adapt to the rapid pace of change.
Melanie B. Prentice, Jeff Bowman, Jillian L. Lalor, Michelle M. McKay, Lindsay A. Thomson, Cristen M. Watt, Andrew G. McAdam, Dennis L. Murray, Paul J. Wilson   +8 more
doaj   +1 more source

Multilevel genomic constraints shape nuclear tRNA gene organization in plants

The Plant Journal, Volume 127, Issue 3, August 2026.
SUMMARY Transfer RNAs (tRNAs) are essential components of the translation machinery. Their abundance and diversity shape decoding capacity as well as the efficiency and accuracy of protein synthesis. Because tRNA abundance is encoded in the genome through tDNA copy number, chromosomal organization, and cis‐regulatory sequences controlling transcription,
Guillaume Hummel, David Pflieger, Valérie Cognat, Laurence Drouard, Alexandre Berr   +4 more
wiley   +1 more source

Studies on Copper and Aβ-Induced Conformational Changes in CAG/CTG Trinucleotide Repeats Sequence

Journal of Alzheimer's Disease Reports, 2017
DNA conformation and stability are critical for the normal cell functions, which control many cellular processes in life, such as replication, transcription, DNA repair, etc.
M. Govindaraju, K.S. Rao Jayanth, D. Jagadeesh Kumar, U.J.S. Prasada Rao, K.R.S. Sambasiva Rao, K.S. Rao   +5 more
doaj   +1 more source

Huntington disease: DNA analysis in brazilian population

Arquivos de Neuro-Psiquiatria, 2000
Huntington disease (HD) is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical findings ...
RASKIN SALMO, ALLAN NASSER, TEIVE HÉLIO A.G., CARDOSO FRANCISCO, HADDAD MÔNICA SANTORO, LEVI GILBERTO, BOY RAQUEL, LERENA JR JUAN, SOTOMAIOR VANESSA SANTOS, JANZEN-DÜCK MÔNICA, JARDIM LAURA BANNACH, FELLANDER FLÁVIO R., ANDRADE LUIZ AUGUSTO FRANCO   +12 more
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