Results 231 to 240 of about 157,656 (310)

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Farnesyltransferase Deficiency in Cardiomyocytes Initiates Senescence and Contributes to Cardiac Fibrosis

Advanced Science, Volume 13, Issue 26, 8 May 2026.
Lipid overload suppresses SREBF2‐mediated FNTB expression, leading to defective Lamin A maturation and nuclear envelope instability. This nuclear catastrophe triggers a pro‐fibrotic senescence program in cardiomyocytes. Notably, restoring nuclear integrity via AAV9‐based gene therapy effectively attenuates cardiac remodeling, identifying the ...
Yuxiao Chen, Lian Lou, Xuan Zhang, Lin Yan, Qi Zhang, Wen Shi, Jie Ding, Xu Lin, Rong Jiang, Shuo Liu, Thida Sok, Pengli Wang, Yun Mou, Jie Han, Shenjiang Hu, Xiaogang Guo, Jian Yang   +16 more
wiley   +1 more source

DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD). [PDF]

Hum Genomics
Löwenstern T, Madritsch S, Horner D, Brait N, Güleray Lafci N, Schachner A, Gerykova Bujalkova M, Kałużewski T, Szyld P, Hengstschläger M, Dremsek P, Laccone F.   +11 more
europepmc   +1 more source

Guillain–Barré Syndrome After Malaria: A Case Report of a 7‐Year‐Old Child With Asymmetric Onset of Acute Motor Axonal Neuropathy

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT This case highlights that acute motor axonal neuropathy can present with asymmetric, relapsing weakness in children. In malaria‐endemic and resource‐limited settings, clinicians should consider atypical Guillain–Barré variants early, as timely recognition and treatment can significantly improve outcomes despite diagnostic and systemic ...
Muath Ibrahim Mohammed Abusaada, Mustafa Mohamed Ibrahim Ali, Muotaman Mohammed Abdalla Adam, Mohammed Hishameldeen Omer Ali, Mohamed Abdallah Mohamed Baraka, Amjad Ali Mohamedelhassan Bakheit, Khabab Abbasher Hussien Mohamed Ahmed, Isameldin Yousif Khidir Mohmed   +7 more
wiley   +1 more source

Carbohydrate‐Based Drug Discovery: Synthetic Strategies and Clinical Applications

Israel Journal of Chemistry, Volume 66, Issue 3, May 2026.
The picture depicts the molecules discussed in the review. On the left side, the general scaffold of sugars is shown. Next to it are four carbohydrate‐based molecules, including remdesivir, islatravir, empagliflozin, and Globo‐H. Remdesivir and islatravir contain a substituted ribose ring attached to a modified nucleobase.
Stephan Scheeff, Jemma Arakelyan, Billy Wai‐Lung Ng   +2 more
wiley   +1 more source

Ataluren for the treatment of people living with nonsense mutation Duchenne muscular dystrophy: a plain language summary of Study 041. [PDF]

J Comp Eff Res
Wu S, Vlodavets D, de Queiroz Campos Araujo AP, Castle J.   +3 more
europepmc   +1 more source

Quality Evaluation Considerations for Stem Cell‐Derived Extracellular Vesicles‐Based Therapeutic Products in China

Journal of Extracellular Vesicles, Volume 15, Issue 5, May 2026.
ABSTRACT Stem cell therapy is currently undergoing clinical research in China for conditions that are resistant to or incurable by traditional pharmaceutical interventions. Stem cell‐derived extracellular vesicles (EVs) exhibit therapeutic effects similar to those of their parent stem cells, positioning them as an alternative or adjunctive approach to ...
Tao Na, Kehua Zhang, Libo Zhao, Xuanbao Yao, Chongfeng Xu, Yuan Zhang, Lan Wang, Miao Xu, Hui Zhang, Shufang Meng   +9 more
wiley   +1 more source

Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9. [PDF]

Neurol Genet
Vissing J, Mozaffar T, Johnson NE, Mathews KD, Wicklund MP, Weihl C, Leung DG, Statland JM, Kang PB, Zingariello CD, Lowes LP, Desai U, Bates K, Alfano LN, Xie H, St Romain J, Blankenbiller T, McLendon G, Rajasingham T, Heitzer M, Wu-Zhang AX, Tripp K, Rodriguez HM, Sproule D, as the GRASP-LGMD Consortium.   +24 more
europepmc   +1 more source

Epicardial Adipose Tissue in Duchenne Muscular Dystrophy Cardiomyopathy. [PDF]

J Am Heart Assoc
Greiner E, Miles KG, Gao Z, Lang SM, Ryan TD, Ollberding NJ, Mantell BS, Rutter MM, Tian C, Villa CR.   +9 more
europepmc   +1 more source