Results 201 to 210 of about 183,642 (350)

Computational Evaluation of Statin Analogs Targeting HMG‐CoA Reductase for Coronary Artery Disease Treatment

ChemistryOpen, EarlyView.
Molecular dynamics analysis of novel statin analogs shows that binding induces superior stabilization of HMG‐CoA reductase. As shown by the solvent‐accessible surface area profile, ligand‐induced rigidity offers a new, effective strategy for drug design. Cardiovascular diseases remain a leading cause of global mortality.
Yoshua B. Mtulo, Geradius Deogratias, James E. Mgaya, Andrew S. Paluch, Lucas Paul   +4 more
wiley   +1 more source

Immune Myositis Complicating Follicular Lymphoma: Case Report. [PDF]

Reports (MDPI)
Zacharia GS, Ajai Mokan Dasan SL, Iwuaba C.   +2 more
europepmc   +1 more source

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the \u3cem\u3eActa1\u3c/em\u3e H40Y Murine Model of Nemaline Myopathy [PDF]

, 2016
Allen, Kenneth P., Beggs, Alan H., Dasgupta, Mahua, Fitts, Robert, Hardeman, Edna C., Hoffmann, Raymond G., Lawlor, Michael W., Liu, Fujun, Meng, Hui, Pearsall, R. Scott, Tinklenberg, Jennifer, Yang, Lin   +11 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Wilson's Disease Myopathy: A Case Report and Brief Literature Review. [PDF]

Cureus
Riccione NM, Chan CN.
europepmc   +1 more source

AB0682 The incidence rate of inflammatory myopathies in slovenia [PDF]

, 2017
Žiga Rotar, Alojzija Hočevar, Monika Krošel, Sonja Praprotnik, Matija Tomšič   +4 more
openalex   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency. [PDF]

J Inherit Metab Dis
Martín-Jimenez P, Bermejo-Guerrero L, Ochoa LE, Navarro-Riquelme M, Garrido-Moraga R, Hernández-Laín A, Hernández-Voth A, González Quintana A, Bermejo-Moriñigo A, González-Méndez V, Martín-Arriscado Arroba C, Smirnov D, Konstantinovskiy N, Arenas J, Martin MÁ, Blázquez A, Domínguez-González C.   +16 more
europepmc   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study. [PDF]

BMC Musculoskelet Disord
Deng J, Wang N, Wu Y, Hao Z, Wu H, Ma S, Liu J, Ji G, Song X.   +8 more
europepmc   +1 more source