Results 51 to 60 of about 17,057 (211)

Genome-wide survey of D/E repeats in human proteins uncovers their instability and aids in identifying their role in the chromatin regulator ATAD2

iScience, 2022
Summary: D/E repeats are stretches of aspartic and/or glutamic acid residues found in over 150 human proteins. We examined genomic stability of D/E repeats and functional characteristics of D/E repeat-containing proteins vis-à-vis the proteins with poly ...
Shalabh Shukla, Pavlo Lazarchuk, Maria N. Pavlova, Julia M. Sidorova   +3 more
doaj   +1 more source

A Brain‐Penetrant Nanobody Reveals GSK3β‐Driven Proline‐Directed Phosphorylation as a Master Regulator of Ischemic Neurodegeneration

Advanced Science, EarlyView.
A brain‐targeted nanoparticle enables delivery of a therapeutic nanobody (Nb.29E9) that inhibits pathogenic GSK3β signaling. This intervention restores AMPK/mTORC1/TGFβ homeostasis, attenuates neuroinflammation and oxidative stress, and promotes long‐term functional recovery after ischemic stroke.
Lan Li, Muyang Li, Lei Sun, Ying Yang, Yuanshun Wu, Ziyi Yin, Anni Wang, Peiyang Zhou, Shaoxiang Luo, Jian Chen, Jun Qin, Zhibing Ai, Zilong Yuan, Zhiqiang Dong, Min Zhang   +14 more
wiley   +1 more source

Expansion of GAA trinucleotide repeats in mammals

, 2006
We have previously shown that GAA trinucleotide repeats have undergone significant expansion in the human genome. Here we present the analysis of the length distribution of all 10 nonredundant trinucleotide repeat motifs in 20 complete eukaryotic genomes
Dalgliesh, Gillian L., Clark, Rhonda M., Bidichandani, Sanjay I., Bhaskar, Sanjeev S., Miyahara, Masaki   +4 more
core   +1 more source

Single‐Cell RNA Editing Identifies T Cell ADAR1 as a Key Regulator of Immune Exhaustion and Anti‐PD‐1 Resistance in Colorectal Cancer

Advanced Science, EarlyView.
Single‐cell RNA editing analysis identifies ADAR1 as a regulator of dysfunctional T cell states in colorectal cancer. Elevated ADAR1 activity promotes T cell exhaustion and impairs antitumor immunity partly through TGF‐β‐SMAD signaling, contributing to anti‐PD‐1 resistance and highlighting T cell ADAR1 as a potential therapeutic target and biomarker ...
Da Kang, Song‐Zuo Xie, Yong‐Zhou Luo, Xin‐Pei Deng, Xi‐Rong Tan, Ze‐Geng Chen, Ling‐Xing Zeng, Gong Chen, Pei‐Rong Ding, Zhi‐Zhong Pan, Rong‐Xin Zhang   +10 more
wiley   +1 more source

The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions

Cells, 2021
Trinucleotide repeats are a peculiar class of microsatellites whose expansions are responsible for approximately 30 human neurological or developmental disorders.
Guy-Franck Richard
doaj   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Tandem repeat copy-number variation in protein-coding regions of human genes

, 2005
BACKGROUND: Tandem repeat variation in protein-coding regions will alter protein length and may introduce frameshifts. Tandem repeat variants are associated with variation in pathogenicity in bacteria and with human disease.
O'Dushlaine, Colm T., Edwards, Richard, Park, Stephen D., Richard J Edwards, Colm T O'Dushlaine, Denis C Shields, Shields, Denis C., Stephen D Park   +7 more
core   +1 more source

Crosstalk between MSH2–MSH3 and polβ promotes trinucleotide repeat expansion during base excision repair

Nature Communications, 2016
The expansion of trinucleotide repeats can have detrimental effects and give rise to a range of human diseases. Here the authors report that the mismatch repair and the base excision repair machinery can operate together to promote expansion during ...
Yanhao Lai, Helen Budworth, Jill M. Beaver, Nelson L. S. Chan, Zunzhen Zhang, Cynthia T. McMurray, Yuan Liu   +6 more
doaj   +1 more source

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

Models of expansion of trinucleotide repeats.

, 2013
(A) Slipped-strand DNAs can form during various metabolic processes such as replication, repair, recombination, transcription, and at unwound DNA.
Yuh-Hwa Wang (457429), Maria Zannis-Hadjopoulos (73406), Masayuki Nakamori (178020), Michelle M. Axford (269322), Charles A. Thornton (272644), Christopher E. Pearson (263866)   +5 more
core   +1 more source