Results 91 to 100 of about 26,354 (249)

Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy.

PLoS ONE, 2021
Expansion of CTG trinucleotide repeats (TNR) in the transcription factor 4 (TCF4) gene is highly associated with Fuchs Endothelial Corneal Dystrophy (FECD).
Eric D Wieben, Ross A Aleff, Tommy A Rinkoski, Keith H Baratz, Shubham Basu, Sanjay V Patel, Leo J Maguire, Michael P Fautsch   +7 more
doaj   +1 more source

Transcription as a Threat to Genome Integrity [PDF]

, 2016
Genomes undergo different types of sporadic alterations, including DNA damage, point mutations, and genome rearrangements, that constitute the basis for evolution.
Aguilera López, Andrés, Gaillard, Hélène   +1 more
core   +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

Characteristics of oligonucleotide frequencies across genomes: Conservation versus variation, strand symmetry, and evolutionary implications [PDF]

, 2008
One of the objectives of evolutionary genomics is to reveal the genetic information contained in the primordial genome (called the primary genetic information in this paper, with the primordial genome defined here as the most primitive nucleic acid ...
Shang-Hong Zhang, Ya-Zhi Huang
core   +1 more source

Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]

, 2014
Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J, Hare, Emma B, Lozano, Reymundo   +2 more
core   +1 more source

Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Fragile X Syndrome (FXS) is a genetic disorder caused by the lack of FMRP, a crucial protein for brain development and function. FMR1 mutations are categorized into premutation and full mutation (FXSFull), with somatic mosaicism (FXSMos) modulating the FXS phenotype.
Fabiola Spolaor, Federica Beghetti, Weronika Piatkowska, Annamaria Guiotto, Roberta Polli, Elisa Bettella, Valentina Liani, Elisa di Giorgio, Zimi Sawacha   +8 more
wiley   +1 more source

Matching maternal and paternal experiences underpin molecular thermal acclimation

Molecular Ecology, EarlyView.
Abstract The environment experienced by one generation has the potential to affect the subsequent one through non‐genetic inheritance of parental effects. Since both mothers and fathers can influence their offspring, questions arise regarding how the maternal, paternal and offspring experiences integrate into the resulting phenotype.
L. C. Bonzi, J. M. Donelson, R. K. Spinks, P. L. Munday, T. Ravasi, C. Schunter   +5 more
wiley   +1 more source

Comparison of multiple typing methods for Aspergillus fumigatus [PDF]

, 2009
As part of studies on the spread of infections, risk factors and prevention, several typing methods were developed to investigate the epidemiology of Aspergillus fumigatus. In the present study, 52 clinical isolates of A.
Coenye, Tom, Jacobsen, MD, Nelis, Hans, Symoens, F, Vanhee, Lies   +4 more
core   +1 more source

Unprecedented Combination of Rare Degenerative Pathologies in an Octogenarian Ex‐Football Player

Neuropathology, EarlyView.
ABSTRACT A 79‐year‐old former professional football player presented with language deficits and cognitive changes. A year later, he had difficulty completing sentences, and 3 years after onset, was reduced to one‐word answers. He developed severe apathy and agitation, and became more impulsive.
Shelley L. Forrest, Nusrat Sadia, Mozhgan Khodadadi, Charles Tator, Robin Green, Maria Carmela Tartaglia, Gabor G. Kovacs   +6 more
wiley   +1 more source

Tumor suppressor p53 binds with high affinity to CTG-CAG trinucleotide repeats and induces topological alterations in mismatched duplexes [PDF]

, 2005
DNA binding is central to the ability of p53 to function as a tumor suppressor. In line with the remarkable functional versatility of p53, which can act on DNA as a transcription, repair, recombination, replication, and chromatin accessibility factor ...
Ahn, Albertoni, Albrechtsen, Appella, Attardi, Bacolla, Bakalkin, Bakkenist, Bargonetti, Bowater, Cain, Chattopadhyay, Chi, Degtyareva, Dudenhoffer, el-Deiry, Espinosa, Giaccia, Gohler, Gohler, Gottifredi, Grillo, Hou, Hupp, Jayaraman, Jett, Kaeser, Kim, Kim, Kim, Kim, Kovtun, Lahiri, Lee, Lee, Li, Liu, Lowndes, Mateu, McKinney, Milyavsky, Mitas, Motoyama, Nakamura, Nie, Oberosler, Pearson, Pearson, Pearson, Petruska, Robles, Rosche, Rowan, Saito, Sinden, Stansel, Steffan, Steffen, Stros, Subramanian, Subramanian, Suck, Vogelstein, Vukojevic, Wahl, Wang, Wells, Wells, Wiesmuller, Wolcke, Zauberman, Zheng, Zhou, Zink   +73 more
core   +1 more source