Results 101 to 110 of about 188,713 (272)

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Hydroxycarboxylic Acid Receptor 2 Mediates β‐hydroxybutyrate's Antiseizure Effect in Mice

Annals of Neurology, EarlyView.
A Objective The ketogenic diet, a high‐fat, low‐carbohydrate regimen, is often used to treat drug‐resistant seizures and is being studied for Alzheimer's disease and other neuropsychiatric disorders. However, its mechanism of action remains unclear. β‐hydroxybutyrate, a primary circulating ketone body produced by the ketogenic diet, may mediate its ...
Soudabeh Naderi, John Williamson, Huayu Sun, Suchitra Joshi, Rachel Jane Spera, Savaira Zaib, Supriya Sharma, Chengsan Sun, Andrey Brodovskiy, Ifrah Zawar, Jaideep Kapur   +10 more
wiley   +1 more source

Anatomical Associations Between Focal Mitochondrial Metabolism and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...
Marlene Tahedl, We Fong Siah, Efstratios Karavasilis, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Foteini Christidi, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Evaluation of Porin Interaction with Adenine Nucleotide Translocase and Cyclophilin-D Proteins after Brain Ischemia and Reperfusion [PDF]

Iranian Journal of Basic Medical Sciences, 2011
Objective (s) Porin is a mitochondrial outer membrane channel, which usually functions as the pathway for the movement of various substances in and out of the mitochondria and is considered to be a component of the permeability transition (PT) pore ...
Mohammad Ali Atlasi, Jose Luis Perez Velazquez   +1 more
doaj  

Effects of analogues of adenine nucleotides on increases in intracellular calcium mediated by P_2T‐purinoceptors on human blood platelets [PDF]

, 1993
David A. Hall, S.M.O. Hourani
openalex   +1 more source

Alu Overexpression Leads to an Increased Double‐Stranded RNA Signature in Dermatomyositis

Arthritis &Rheumatology, EarlyView.
Objective Dermatomyositis is an autoimmune condition characterized by a high interferon signature of unknown etiology. Because coding sequences constitute <1.2% of our genomes, there is a need to explore the role of the noncoding genome in disease pathogenesis.
Rayan Najjar, Andrew Mammen, Tomas Mustelin   +2 more
wiley   +1 more source

Adenine Nucleotide Levels in a Closed Enzymatic Digestion System for Porcine Islet Isolation

Cell Transplantation, 2012
Obtaining viable islets is a crucial step for successful islet transplantation. Adenosine triphosphate (ATP) is a marker of cell viability. However, little is known about any changes in the energy status of the tissues that are being digested during the ...
Ikuro Oshibe, Takuro Saito, Yoshihiro Sato, Takaharu Saito, Manabu Tsukada, Kazuya Ise, Akira Kenjo, Takashi Kimura, Takayuki Anazawa, Shigeya Suzuki, Yasuhiro Hashimoto, Mitusukazu Gotoh M.D.   +11 more
doaj   +1 more source

Updating our view of organelle genome nucleotide landscape

Frontiers in Genetics, 2012
Organelle genomes show remarkable variation in architecture and coding content, yet their nucleotide composition is relatively unvarying across the eukaryotic domain, with most having a high adenine and thymine (AT) content. Recent studies, however, have
David Roy Smith
doaj   +1 more source

Association of Calpastatin (CAST) Gene with Growth Traits and Carcass Characteristics in Bali Cattle [PDF]

, 2015
Calpastatin (CAST) gene is well known as an inhibitor of muscle protein degradation and relates to muscle growth and meat tenderness. The objective of this study was to determine the association of CAST gene with growth traits and carcass characteristics
Gunawan, A. (A), Jakaria, J. (Jakaria), Priyanto, R. (R), Putri, R. (R)   +3 more
core  

Reprogramming tumor immune microenvironment by ultrasound‐responsive nanoplatforms for enhanced cancer immunotherapy

BMEMat, EarlyView.
Ultrasound‐responsive nanoplatforms reprogram the tumor immune microenvironment by targeting tumor cells, immune cells, and non‐immune stromal cells to enhance the efficacy of cancer immunotherapy. Abstract Cancer immunotherapy represents a significant advancement in cancer treatment by enhancing the specific recognition and elimination of cancer cells.
Shilong Zhao, Rui Qu, Zan Dai, Xiqun Jiang, Xu Zhen   +4 more
wiley   +1 more source