Results 271 to 280 of about 159,772 (339)

Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa

, 2018
Jing Wang, Cong Zhou, Yuanyuan Xiao, Hongqian Liu   +3 more
openalex   +1 more source

Skeletal Muscle Biomarkers of Amyotrophic Lateral Sclerosis: A Large‐Scale, Multi‐Cohort Proteomic Study

Annals of Neurology, EarlyView.
Objective Biomarkers with clear contexts of use are important tools for amyotrophic lateral sclerosis (ALS) therapy development. Understanding their longitudinal trajectory in the untreated state is key to their use as potential markers of pharmacodynamic response.
Oleksandr Dergai, Joanne Wuu, Magdalena Koziczak‐Holbro, Andrea Malaspina, Volkan Granit, Jessica P. Hernandez, Anne Cooley, Ruchika Sachdev, Lili Yu, Michael Bidinosti, Ludivine Flotte, Mark Nash, Lori L. Jennings, James D. Berry, Lucie I. Bruijn, Sophie Brachat, Michael Benatar   +16 more
wiley   +1 more source

Discovery of a First‐in‐Class Covalent Allosteric SHP1 Inhibitor with Immunotherapeutic Activity

Angewandte Chemie, EarlyView.
A covalent allosteric inhibitor M029 was discovered for SHP1, a novel target for immunotherapy. M029 binds to a cryptic Cys remote from the active site, exhibits robust target engagement, and blocks tumor progression by stimulating antitumor immune response.
Zihan Qu, Frederick Nguele Meke, Zheng Zhang, Aaron D. Krabill, Christine S. Muli, Brenson A. Jassim, Jiajun Dong, Quyen D. Nguyen, Yunpeng Bai, Jinyue Li, Yiming Miao, Bardia Asadi, Levi M. Johnson, Jinmin Miao, Darci J. Trader, W. Andy Tao, Zhong‐Yin Zhang   +16 more
wiley   +2 more sources

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

Unexpected Dual Function of Plant YUCCA Enzymes Links Chlorophyll Catabolism to Auxin Homeostasis

Angewandte Chemie, EarlyView.
YUCCA enzymes are well known to catalyze the main step of auxin biosynthesis in plants. Here, a hitherto undescribed dual function was discovered, revealing that some YUCCAs also act in chlorophyll degradation. In vitro feedback regulation furthermore suggests a link between chlorophyll degradation and hormone homeostasis and a physiological role of ...
Sina Rütschlin, Lei Zhang, Cornelia A. Karg, Michael Zwerger, Johanna M. Gostner, Simone Moser, Robin Teufel   +6 more
wiley   +2 more sources

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

Structural basis for adhesion G protein-coupled receptor Gpr126 function [PDF]

, 2001
Leon, Katherine, Cunningham, Rebecca L., Riback, Joshua A., Feldman, Ezra, Li, Jingxian, Sosnick, Tobin R., Zhao, Minglei, Monk, Kelly R., Araç, Demet   +8 more
core   +2 more sources

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

Advanced NanoBiomed Research, EarlyView.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov, Murugan Ramalingam, Hongkai Wu, Toshinori Fujie, Yukinari Nakamura, Takeshi Hori, Yuji Nashimoto, Xuetao Shi, Hirokazu Kaji   +8 more
wiley   +1 more source

An unusual BRCA2 allele carrying two splice site mutations

Annals of Oncology, 2009
M. Colombo, C.B. Ripamonti, V. Pensotti, C. Foglia, B. Peissel, M.A. Pierotti, S. Manoukian, P. Radice   +7 more
openaire   +1 more source

Mutation in an exonic splicing enhancer site causing chronic granulomatous disease

, 2017
Martin de Boer, Karin van Leeuwen, Judy Geissler, Bernd H. Belohradsky, Taco W. Kuijpers, Dirk Roos   +5 more
openalex   +1 more source