Results 91 to 100 of about 94,893 (197)

Hypomethylating agents in vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review

British Journal of Haematology, EarlyView.
Summary VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) is an X‐linked, systemic, haemato‐inflammatory syndrome caused by somatic mutations in the UBA1 gene. No standardized treatment guidelines exist, but evidence is emerging that treatment with hypomethylating agents (HMAs) can induce improvement of the inflammatory symptoms,
Fieke W. Hoff, Roochi Trikha, Emma M. Groarke, Bhavisha A. Patel   +3 more
wiley   +1 more source

Expanding the Molecular and Pathologic Spectrum of <i>HSPB8</i> Myopathy and Distal Motor Neuropathy. [PDF]

Neurol Genet
Putko BN, Sorenson EJ, Cui G, Liewluck T, Niu Z, Litchy WJ, Mer G, Milone M.   +7 more
europepmc   +1 more source

Oral mucosal manifestations with identical mutations to the bone marrow in a patient with VEXAS syndrome

Rheumatology &Autoimmunity, EarlyView.
Lilian Vasaitis, Lena Blomstrand, Tatjana Pandzic, Miklos Gulyas, Panagiotis Baliakas, Viktor Ljungström   +5 more
wiley   +1 more source

Navigating through uncertainty—Experience from the UK national VEXAS MDT

British Journal of Haematology, EarlyView.
Summary The objective of this study was to describe the establishment, structure and influence of the United Kingdom national multidisciplinary team (MDT) for vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic (VEXAS) syndrome and to assess its clinical outputs and perceived value among participating clinicians.
Daniel Pietsch, Austin Kulasekararaj, Sinisa Savic, on behalf of VEXNET‐UK MDT, Adam Al‐Hakim, Tanya Basu, Catherine Cargo, Onima Chowdhry, James Galloway, Eiphyu Htut, Stephen Jolles, Arvind Kaul, Helen Lachmann, Calman A. MacLennan, Anoop Mistry, Elspeth Payne, James Poulter, Farzana Rahman, Manoj Raghavan, Rachel Tattersall, Roochi Trikha, Villyn Yong, Taryn Youngstein, Anna Babb, Celia Beynon, Sarah Bingham, Nuno Borges, Jenny Bosworth, Carlos Campani, Marian Chan, Shikha Chattree, Niall Conlon, Robert Corser, Elena Ganendra, Paraskevi Gkreka, William Gordon, Elisabeth Grey‐Davies, Joanna Haughton, Simona Huica, Pawel Kaczmarek, Alison Laing, Areti Makrygeorgou, Susanna Mathew, Jill Mccormick, Muhammad Mohsin, Vidhya Murthy, Sateesh Nagumantry, Ognjenka Savanovic‐Abel, Shaun Smale, Alex Sternberg, Rosemary Waller, Sarah Westbury   +51 more
wiley   +1 more source

Elevated beta-hydroxybutyrate within a pediatric population and its associated pathology: A retrospective case series. [PDF]

J Forensic Sci
Haghandish N, Girdwood A, Milroy C, Parai J.   +3 more
europepmc   +1 more source

The L108I polymorphism in mouse prion protein drives spontaneous disease and enhances transmission of atypical and classical prion strains

Brain Pathology, EarlyView.
A single amino acid change (L108I) combined with PrP overexpression drives spontaneous atypical prion formation in mice, enabling also efficient propagation of diverse prion strains. This model allows studying how spontaneous prion diseases arise and provides powerful tools for investigating strain emergence, transmission barriers, and mechanisms ...
Hasier Eraña, Enric Vidal, Natalia Fernández‐Borges, Jorge M. Charco, Carlos M. Díaz‐Domínguez, Cristina Sampedro‐Torres‐Quevedo, Josu Galarza‐Ahumada, Eva Fernández‐Muñoz, Maitena San‐Juan‐Ansoleaga, Miguel Ángel Pérez‐Castro, Nuno Gonçalves‐Anjo, Patricia Piñeiro, Samanta Giler, Nora González‐Martín, Nuria L. Lorenzo, Africa Manero‐Azua, Guiomar Perez de Nanclares, Mariví Geijo, Manuel A. Sánchez‐Martín, Jesús R. Requena, Joaquín Castilla   +20 more
wiley   +1 more source

Nematode-trapping devices of Arthrobotrys oligospora is an iron storage system mediated by elevated temperatures. [PDF]

FEMS Microbiol Ecol
Zhou J, Wu Q, Wu L, Li L, Xue S, Yan J, Hu Z, Niu XM.   +7 more
europepmc   +1 more source

IRF4 Enhances Radiosensitivity of Cervical Cancer by Inhibiting the PI3K/Akt/mTOR Pathway to Regulate Autophagy

Cancer Science, EarlyView.
IRF4 is a prognostic biomarker in cervical cancer. IRF4 enhances radiosensitivity and inhibits tumor growth via PI3K/AKT/mTOR‐mediated autophagy. IRF4 boosts radiation response in vitro and in vivo. ABSTRACT Interferon regulatory factor 4 (IRF4), a critical member of the IRF transcription factor family, harbors an elusive biological role in cervical ...
Meihui Gao, Zhaolei Cui, Huachun Song, Yanhong Li, Anyang Li, Jianfeng Zheng, Linying Liu, Xuefen Lin, Wankai Fu, Yang Sun   +9 more
wiley   +1 more source

Developmental dynamics of cellular specialization during proanthocyanidin accumulation in persimmon fruit. [PDF]

Plant Physiol
Fujiwara Y, Nishiyama S, Kusumi A, Okamoto-Furuta K, Yamane H, Yonemori K, Tao R.   +6 more
europepmc   +1 more source

Inhibition of Fibroblast Activation Protein‐α Ameliorates Intervertebral Disc Degeneration via Reduced Vascular Invasion in Cartilage Endplate

Cell Proliferation, EarlyView.
Schematic illustration showing that FAP‐α promoted angiogenesis, cytokine release and ECM degradation in the CEP degeneration of the intervertebral disc through upregulating the PI3K/Akt/HIF‐1α/VEGFA pathway. ABSTRACT Intervertebral disc degeneration (IDD) is a primary cause of low back pain, with the development of new blood vessels being a key ...
Hao‐Wei Xu, Sheng‐Jie Chang, Shuo Wang, Xiao‐Wei Liu, Shan‐Jin Wang   +4 more
wiley   +1 more source