Results 221 to 230 of about 51,591 (290)

Congenital Hereditary Endothelial Dystrophy: A Review of the Molecular Pathogenesis, Genetic Basis, and Emerging Treatments. [PDF]

Clin Ophthalmol
Jomar DE, Khayyat W, Almontashiri NAM, Ahmad K, Hameed S, Al-Swailem SA.   +5 more
europepmc   +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

Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report. [PDF]

Acta Myol
Majoul MS, Zouari R, Hassine A, Mokni M, Ben Sassi S.   +4 more
europepmc   +1 more source

Diagnostic utility of inflammatory markers in formalin‐fixed and paraffin‐embedded muscle biopsies for idiopathic inflammatory myopathies

Histopathology, EarlyView.
Formalin‐fixed, paraffin‐embedded (FFPE) muscle tissue supports robust immunohistochemical detection of MHC II, MxA, and p62 with performance comparable to frozen sections. This approach reliably identifies the pathological signatures of inclusion body myositis, dermatomyositis, immune‐mediated necrotizing myopathy, and overlap myositis, enhancing the ...
Chinnawut Suriyonplengsaeng, Jariya Waisayarat   +1 more
wiley   +1 more source

An Assessment of Paediatricians' Knowledge and Perspectives of Duchenne Muscular Dystrophy in Oman. [PDF]

Sultan Qaboos Univ Med J
Al Jabri Z, Alsawaie M, Saki Malehi A, Al Futaisi A, Al-Amrani F.   +4 more
europepmc   +1 more source

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey, Carolyn Droste, John A. Eisman, Steven G. Faux, Arnagretta Hunter   +4 more
wiley   +1 more source

A Rare Corneal Scenario: Concurrent Diagnosis of Epithelial Basement Membrane Dystrophy and Crocodile Shagreen. [PDF]

Turk J Ophthalmol
Ünal S, Bozkurt Oflaz A, Gönül Ş, Bozkurt B.   +3 more
europepmc   +1 more source

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source

What makes a lonely child: environmental, health, and multimodal neuroimaging correlates of prospective loneliness in the ABCD study

Journal of Child Psychology and Psychiatry, EarlyView.
Background Loneliness in childhood is a growing public health concern, yet early multilevel candidate risk and protective factors remain insufficiently mapped. Systematic investigation is essential to guide prevention and intervention during sensitive developmental periods.
Ting Yat Wong, Ting Sam Wong, Wai Kai Hou, Angel Nga Man Leung, Jie Xiao, Kenneth S. L. Yuen, Simon S. Y. Lui, Anqi Qiu, Tyler M. Moore, Ruben C. Gur   +9 more
wiley   +1 more source