Results 61 to 70 of about 3,775 (171)

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

Molecular Genetics & Genomic Medicine, 2021
Background Congenital cervical spinal muscular atrophy (CCSMA) is a rare, nonprogressive, neurogenic disorder characterized by symmetric arthrogryposis and motor deficits mainly confined to upper extremities. Since its first proposal by Darwish et al. 39 
Jingwei Liu, Kelai Wang, Baomin Li, Xiaofan Yang   +3 more
doaj   +1 more source

Post‐Translational Control of TaFT1 by WAPO1 Ubiquitination Shapes Spike Architecture and Yield in Wheat

Plant Biotechnology Journal, EarlyView.
ABSTRACT The florigen protein TaFT1 coordinately regulates heading time and spikelet number per spike (SNS), serving as a key yield determinant in wheat. However, how its stability is post‐translationally controlled in the shoot apical meristem remains unclear.
Yujie Jiang, Xiongtao Li, Yiqing Wang, Haoran Wang, Zhaoyan Chen, Chaoqun Dong, Xiangqing Liu, Xincheng Wang, Sufang Li, Weilong Guo, Yingyin Yao, Mingming Xin, Xingguo Ye, Zhongfu Ni, Qixin Sun, Jie Liu   +15 more
wiley   +1 more source

Case Report: VEXAS syndrome with extensive pulmonary, cardiac, and skeletal involvement

Frontiers in Immunology
VEXAS syndrome is a rare and severe systemic inflammatory disorder caused by somatic mutations in the X-linked UBA1 gene, primarily affecting men. Since its initial description in 2020, it has been recognized for its complex clinical phenotype and ...
Zhongbiao Fang, Zhongbiao Fang, Tingwei Xu, Meng Zhang, Chaonan Li, Chaonan Li, Anwen Zheng, Yudan Gu, Yudan Gu, Chuhan Lan, Zongming Liu, Zongming Liu, Lingling Tang, Lingling Tang   +13 more
doaj   +1 more source

From the Proteome to Therapeutics: A Multi‐Database Approach to Drug Discovery in Periodontitis—An Exploratory Pilot Study

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 990-1004, July 2026.
ABSTRACT Introduction This explanatory pilot study presents a workflow to identify approved drugs, which could be repurposed for periodontitis therapy using salivary proteomics combined with drug‐target database screening. Methods Proteomic analyses of saliva using LC–MS/MS were conducted in two independent settings: a cohort (sub‐study I, N = 187) and
Taisir Bozo, Annette Murr, Birte Holtfreter, Sebastian‐Edgar Baumeister, Peter Meisel, Uwe Völker, Werner Weitschies, Henry Völzke, Philipp Kanzow, Elke Hammer, Manuela Gesell Salazar, Thomas Kocher   +11 more
wiley   +1 more source

VEXAS syndrome : literature review.

Batna Journal of Medical Sciences
VEXAS is an acronym standing for vacuoles, enzyme E1, X-linked, autoinflammatory, and somatic. It designates an autoinflammatory syndrome in adults, first described in 2020, linked to acquired somatic mutations in the UBA1 gene (ubiquitin-activating ...
Abdelhak ABABSA MOUAKI, Ouassila ABBASI
doaj   +1 more source

Alzheimer's disease biological domain sub‐stratification enhances the precision of functional analyses

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION The Target Enablement to Accelerate Therapy Development for AD (TREAT‐AD) bioinformatics pipeline employs a rank‐and‐organize strategy. Disease‐associated genes drive enrichment of large AD‐linked endophenotypes. However, these biological areas were too large to promote hypothesis development or target identification.
Gregory A. Cary, Sai Sruthi Amirtha Ganesh, Laura Heath, Karina Leal, Martin Kampmann, Frank M. Longo, Robert R. Butler III, Allan L. Levey, Gregory W. Carter, Jesse Wiley   +9 more
wiley   +1 more source

Schnitzler Syndrome as an Autoinflammatory Disease Driven by B‐Cell‐Specific Somatic MYD88 Mutation

Allergy, EarlyView.
Yuyi Zhou, Yoko Ueki, Naoya Iwata, Hiroshi Oue, Kentaro Kato, Mengyan Li, Kazushi Izawa, Tomoyasu Jo, Seishi Ogawa, Kenji Kabashima, Naotomo Kambe   +10 more
wiley   +1 more source

Ischemia‐Induced Post‐Translational Modifications of GLT‐1 Mediate Aberrant Trafficking and Impaired Glutamate Uptake

Journal of Neurochemistry, Volume 170, Issue 6, June 2026.
Ischemic insult causes hyper‐glutamatergic signaling and neuronal death. The astrocytic transporter GLT‐1, which clears extracellular glutamate, is internalized and degraded in response to ischemia. We found that lysine‐directed post‐translational modifications (particularly ubiquitination) of the C‐terminal domain drive aberrant trafficking ...
Simran Kaur Gill, Katelyn Louise Reeb, Max Kroll, Ole V. Mortensen, Andréia C. K. Fontana   +4 more
wiley   +1 more source

A Novel Use of Anifrolumab for a Novel Disease

ACR Open Rheumatology, Volume 8, Issue 5, May 2026.
Objective To explore the potential role of type‐I interferon (IFN‐I) signaling in autoimmune cytopenias outside the context of systemic lupus erythematosus (SLE), and to evaluate the clinical response to off‐label anifrolumab in two patients with fatigue and immune‐mediated cytopenias who did not meet established criteria for SLE.
Zachary Holtz, Adam Schulz, Alexa Meara
wiley   +1 more source

Distinct Pattern of Atypical Megakaryocytes in VEXAS Syndrome

International Journal of Laboratory Hematology, EarlyView.
Andrew Y. Sung, Jackson W. Douglas, Olga K. Weinberg, Sharon K. Germans, Weina Chen   +4 more
wiley   +1 more source