Results 81 to 90 of about 33,292 (260)

CTG18.1 and ERDA-1 CAG/CTG Repeat Size in Bipolar Disorder

Neurobiology of Disease, 1999
Several groups have reported association between large CAG/CTG repeat sequences in the genome and bipolar disorder using the Repeat Expansion Detection (RED) method.
C.A. Guy, T. Bowen, I. Jones, F. McCandless, M.J. Owen, N. Craddock, M.C. O'Donovan   +6 more
doaj   +1 more source

Electrochemical and Thermal Interplay in Blended Cathodes for All Solid‐State Batteries

Advanced Energy Materials, EarlyView.
This work analyzes blended LFP‐NMC cathodes for all solid state batteries, revealing their balanced rate performance and enhanced thermal properties. Operando X‐ray diffraction studies uncovered lithiation gradients and asymmetric charging effects due to kinetic limitations.
Simon Si Ming Ji, Zhuo Li, Abhinand Ayyaswamy, Sascha Kremer, Shintaro Inaba, Ana G. Claus, Dayoung Jun, Se Hwan Park, Moonseong Kim, Bairav S. Vishnugopi, Hui Zhong, Sanjit Ghose, Michael Drakopoulos, Nghia T. Vo, Zhong Zhong, Jürgen Janek, Partha P. Mukherjee, Kelsey B. Hatzell   +17 more
wiley   +1 more source

Majority‐Voting Overlapping Method for Error Correction in DNA Data Storage

Advanced Intelligent Discovery, EarlyView.
We propose an overlapping‐based majority‐voting method for DNA data storage error correction. By aligning multiple reads and choosing the most frequent base per position, it suppresses substitution errors without prior models. Validated on synthetic and real sequencing data, it achieves high‐fidelity, scalable, and cost‐effective reconstruction ...
Thi Bich Ngoc Nguyen, Seongjun Seo, Anshula Tandon, Nguyen Kim Uyen, Thi Hong Nhung Vu, Sung Ha Park   +5 more
wiley   +1 more source

Androgen receptor CAG repeat polymorphism is not associated with insulin resistance and diabetes among South Asian males

BMC Research Notes, 2017
Objective To study relationship between androgen receptor (AR) CAG repeat polymorphism, insulin resistance (IR), β-cell function and other clinical/biochemical parameters in ethnic South Asian adults.
Lasantha S. Malavige, Surani Jayawickrama, Priyanga Ranasinghe, Jonathan C. Levy   +3 more
doaj   +1 more source

A mouse model of mechanical stress injury to the basal ganglia using thermosensitive PNIPAM hydrogel for intracerebral hemorrhage research

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a novel mouse model of intracerebral hemorrhage (ICH) by stereotactically injecting thermosensitive PNIPAM hydrogel into the internal capsule to impose localized mechanical stress on the corticospinal tract, which provides a straightforward and reproducible tool for preclinical studies on focal mechanical stress–induced ...
Mingxi Li, Yujie Chen, Rongsu Huang, Min Xia, Chao Mi, Yuan Tian, Peiwen Guo, Taotao Jin, Shilei Hao, Hua Feng, Yujie Chen, Zhi Chen   +11 more
wiley   +1 more source

DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles

Neurobiology of Disease, 2012
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant progressive neurodegenerative disorder with intellectual deterioration and various motor deficits including ataxia, choreoathetosis, and myoclonus, caused by an abnormal expansion of ...
Kazushi Suzuki, Jiayi Zhou, Toshiya Sato, Keizo Takao, Tsuyoshi Miyagawa, Mutsuo Oyake, Mitunori Yamada, Hitoshi Takahashi, Yuji Takahashi, Jun Goto, Shoji Tsuji   +10 more
doaj   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, EarlyView.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

The central role of DNA damage and repair in CAG repeat diseases

Disease Models & Mechanisms, 2018
Diseases such as Huntington's disease and certain spinocerebellar ataxias are caused by the expansion of genomic cytosine-adenine-guanine (CAG) trinucleotide repeats beyond a specific threshold.
Thomas H. Massey, Lesley Jones
doaj   +1 more source