Results 211 to 220 of about 116,069 (304)

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Beyond Hypothyroid Myopathy: Signal Recognition Particle (SRP)-Negative Necrotizing Dermatomyositis Unmasked by Anti-nuclear Matrix Protein 2 (Anti-NXP2) Positivity in a 60-Year-Old Woman With Hashimoto's Thyroiditis. [PDF]

Cureus
Goranti J, Marrufo Huanca M, Diaz Macip JL, Banchon Macias GA, Afzal Z.   +4 more
europepmc   +1 more source

Collagen Type VI Alpha 1 as a Regulator of Redox Homeostasis in Antioxidant‐Enhanced Osteogenesis of Dental Stem Cells

Cell Proliferation, EarlyView.
Under physiological conditions, NAC activates the PI3K‐AKT‐COL6A1 axis to sustain redox balance and enhance osteogenesis. COL6A1 deficiency, however, compromises this axis, inducing oxidative stress and impairing NAC's osteogenic efficacy. ABSTRACT Alveolar bone injury represents a prevalent clinical challenge in dentistry, for which stem cell‐based ...
Zhaosong Meng, Jiacheng Liu, Yue Zhang, Ruimeng Yang, Jingyi Zhang, Haosun Yang, Zheng Wang, Ran Wei, Zhe Li, Shuling Guo, Lizhi Hu, Lei Sui   +11 more
wiley   +1 more source

Statin-Associated Immune-Mediated Necrotizing Myopathy: An Underrecognised Cause of Progressive Muscle Weakness in Primary Care. [PDF]

Cureus
Ong JT, Jamil TR, Loo SY.
europepmc   +1 more source

Assessing Correlation of Quantitative Technetium‐99m Sestamibi Uptake in Thyroid Scintigraphy With Treatment Duration in Amiodarone‐Induced Thyrotoxicosis

Journal of Medical Imaging and Radiation Oncology, EarlyView.
Ray Wang, Nathan Better, Dinesh Sivaratnam, James Westcott, Simon Forehan, David A. Pattison, Spiros Fourlanos   +6 more
wiley   +1 more source

Hypercortisolism: Causes, Consequences and Clinical Significance – A Review of Pathophysiology

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Hypercortisolism or Cushing syndrome is a heterogeneous clinical spectrum caused by chronic glucocorticoid excess, ranging from exogenous Cushing syndrome to rare endogenous aetiologies and the increasingly recognised entity of mild autonomous cortisol secretion (MACS). Physiological cortisol production is tightly regulated by the hypothalamic–
Mohamed Eldib, Francisco Emilio Fierro, Maria Ortega Abad, Ricardo Correa   +3 more
wiley   +1 more source

Comminuted fractures of the proximal phalanx in horses: A multicentre retrospective review

Equine Veterinary Education, EarlyView.
Summary Background Comminuted fractures of the proximal phalanx (CFPP), defined as the presence of three or more major fracture fragments, present difficult management challenges. Feedback from practitioners and long‐term follow‐up can be helpful to reassess evidence‐based treatment strategies and improve clinical outcomes.
C. de Chaisemartin, M. Farfan, B. Dal Cero, A. Martens, F. Rossignol, A. Kalinovskiy, C. Lischer, C. Tessier, S. Grulke, G. Manneveau, V. Gouzer, G. Gomez, J. Samsel, C. Mespoulhes‐Riviere, F. Pichereau, L. Alfonso Gracia Calvo, M. Trécu, A. Spadaro Rossello, P. Planes, X. Peyrecave, C. Mansuy, C. Henry‐Perin, A. Guezennec, M. C. Schramme   +23 more
wiley   +1 more source

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, EarlyView.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

The FEBS Journal, EarlyView.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar, Céline Philippe, Eric Chevet, Jiří Zahradník   +3 more
wiley   +1 more source

TRIM32 controls timely cell cycle exit in muscular differentiation through downregulation of c‐Myc mRNA

The FEBS Journal, EarlyView.
Trim32 regulates the transition from proliferation to differentiation in C2C12 cells after myogenic induction. We found that, at the onset of differentiation, Trim32 destabilizes c‐Myc mRNA, promotes cell cycle exit, and enables normal myotube formation.
Lu Xiong, Elisa Lazzari, Sabrina Pacor, Simeone Dal Monego, Erica Piovesan, Danilo Licastro, Germana Meroni   +6 more
wiley   +1 more source