Results 111 to 120 of about 35,591 (238)

Implementation of an Integrated Pharmacology Curriculum in a Flipped, Small‐Group, Case‐Based, Pre‐Clerkship Medical Curriculum Improved Student Performance

Pharmacology Research &Perspectives, Volume 14, Issue 3, June 2026.
ABSTRACT Rush Medical College implemented a new, integrated pre‐clerkship curriculum. Pharmacology was integrated with other basic sciences into a flipped, small‐group, case‐based structure. This report describes the main features of the pharmacology curriculum for pharmacology directors to have a template.
Brinda Desai Bradaric, Eric Van Rite, Lalita Prasad‐Reddy, Michael Bradaric   +3 more
wiley   +1 more source

Knockdown of INPP5K compromises the differentiation of N2A cells

Frontiers in Molecular Neuroscience
Inositol polyphosphate 5-phosphatase K (INPP5K), also known as SKIP (skeletal muscle and kidney-enriched inositol phosphatase), is a cytoplasmic enzyme with 5-phosphatase activity toward phosphoinositides (PIs).
Annamaria Manzolillo, Lennart Gresing, Christian A. Hübner, Christian A. Hübner, Patricia Franzka   +4 more
doaj   +1 more source

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

Skeletal Muscle, 2011
Background Investigations into both the pathophysiology and therapeutic targets in muscle dystrophies have been hampered by the limited proliferative capacity of human myoblasts.
Mamchaoui Kamel, Trollet Capucine, Bigot Anne, Negroni Elisa, Chaouch Soraya, Wolff Annie, Kandalla Prashanth K, Marie Solenne, Di Santo James, St Guily Jean, Muntoni Francesco, Kim Jihee, Philippi Susanne, Spuler Simone, Levy Nicolas, Blumen Sergiu C, Voit Thomas, Wright Woodring E, Aamiri Ahmed, Butler-Browne Gillian, Mouly Vincent   +20 more
doaj   +1 more source

Fetal Presentation of Walker–Warburg Syndrome With a Novel POMT1 Splice‐Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Walker–Warburg syndrome (WWS) is a fatal autosomal recessive disorder characterized by brain and eye malformations, and prenatal diagnosis relies heavily on neuroimaging findings to guide targeted genetic screening. Here, we describe a distinctive second‐trimester fetal imaging pattern observed in two siblings.
Jing Zhang, Pin Wang, Gan Tian, Yu Hu, Xin Zhang, Xiang Huang, Xiaoqiang Zhou, Peng Huang, Fengying Chen   +8 more
wiley   +1 more source

A Sri Lankan boy with Emery-Dreifuss muscular dystrophy 5 presenting during infancy with persistent transaminitis

BMC Pediatrics
Background Emery-Dreifuss muscular dystrophy is a rare muscular dystrophy characterised by muscle weakness, joint contractures, and cardiac involvement.
Sachith Mettananda, Thakshila Vipulanayake, Gihani Dineshika, Tharindi Suriapperuma, Manissha Rajeindran, Padmapani Padeniya   +5 more
doaj   +1 more source

Absence of microRNA-21 does not reduce muscular dystrophy in mouse models of LAMA2-CMD.

PLoS ONE, 2017
MicroRNAs (miRNAs) are short non-coding RNAs that modulate gene expression post-transcriptionally. Current evidence suggests that miR-21 plays a significant role in the progression of fibrosis in muscle diseases.
Bernardo Moreira Soares Oliveira, Madeleine Durbeej, Johan Holmberg   +2 more
doaj   +1 more source

Genotype–Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Abubakar Nazir, Atif Hussain Sarwar, Rameen Nazar, Sarim Hassan Shahab, Sumera Manan, Hafsa Rafique, Ahsan Talal Khan, Abdalhakim Shubietah, Syed Rafay Hussain Zaidi, Behram Khan   +9 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

Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]

, 2015
No abstract ...
Ferguson-Smith, Malcolm
core  

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 more
wiley   +1 more source