Results 151 to 160 of about 568,137 (302)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

NUAK2 Inhibition Enhances Macromolecular Drug Delivery in a 3D Fibrotic Model of the Pancreatic Tumor Microenvironment

Advanced NanoBiomed Research, EarlyView.
Using a 3D cell culture model of the fibrotic barrier in pancreatic cancer, this work shows that inhibiting NUAK2 kinase in pancreatic stellate cells enhances macromolecular drug delivery. Mechanistically, NUAK2 inhibition disrupted actin stress fiber assembly to downregulate collagen I expression, thus enhancing macromolecular permeability.
Misaki Nakamura, Hiroyoshi Y. Tanaka, Mayu Ohira, Haruko Ohta‐Okano, Reika Nakamura, Yu Seno, Saaya Yara, Sakura Fujita, Daichi Shibata, Masaya Yamamoto, Shinichi Toyooka, Kensuke Osada, Horacio Cabral, Atsushi Masamune, Mitsunobu R. Kano   +14 more
wiley   +1 more source

Multimaterial Triphasic Scaffold Replicates Enthesis Microenvironment to Modulate Early Cell Responses

Advanced NanoBiomed Research, EarlyView.
A bioinspired triphasic scaffold integrating 3D printed polycaprolactone and electrospun poly(lactic‐co‐glycolic acid) is developed to replicate the organization of the tendon‐to‐bone enthesis. Cyclic mechanical stimulation induces spatially defined cell morphology and lineage‐related gene expression in human mesenchymal stem cells, highlighting the ...
Ginevra Pegollo, Simone Micalizzi, Girish Pattappa, Philipp Stahlhut, Jürgen Groll, Carmelo De Maria, Denitsa Docheva, Giovanni Vozzi   +7 more
wiley   +1 more source

Ribozymes for RNA‐Catalyzed RNA Methylation and Labeling

Angewandte Chemie International Edition, EarlyView.
Ribozymes are powerful tools for site‐specific RNA modification. Their activities range from installing tags and fluorophores to generating natural RNA methylations, making them valuable tools to uncover the many functions that RNA plays in nature.
Carolin P. M. Scheitl, Claudia Höbartner   +1 more
wiley   +1 more source

Dual Action of Dipyridamole in Experimental Rheumatoid Arthritis: Suppression of Joint Inflammation and Upregulation of Muscle Anabolism via Adenosine and AMPK Pathways

Arthritis &Rheumatology, EarlyView.
Objective Rheumatoid sarcopenia, characterized by the progressive loss of skeletal muscle mass and function, is a frequent comorbidity in rheumatoid arthritis (RA), linked to prolonged, severe systemic inflammation. Purinergic signaling (adenosine, AMP, and ATP) plays a crucial role in inflammation, myogenesis, and muscle hypertrophy.
Miguel Marco‐Bonilla, Maria Fresnadillo, Irene Sanchez‐Platero, Macarena de la Riva‐Bueno, Fernando Huete‐Toral, Gonzalo Carracedo, Carmen Conde, Yolanda Benitez, Pablo Minguez, Sandra Carolina Cifuentes, Joaquin Rams, Gabriel Herrero‐Beaumont, Raquel Largo, Aránzazu Mediero   +13 more
wiley   +1 more source

Long Noncoding RNA H19 Mediates STAT3‐Dependent Activation of Keratinocytes and Fibroblasts in Systemic Sclerosis Skin

Arthritis &Rheumatology, EarlyView.
Objective Dermal systemic sclerosis (SSc) fibroblasts and their exosomes can activate keratinocytes in SSc, with long noncoding RNA (lncRNA) H19 highlighted as the most up‐regulated RNA in their cargo compared with healthy controls (HCs). The role of H19 in SSc pathogenesis has never been investigated.
Begoña Caballero‐Ruiz, Christopher W. Wasson, Rebecca L. Ross, Francesco Del Galdo   +3 more
wiley   +1 more source

Protease-mediated maturation of M-PMV reverse transcriptase into a functional heterodimer. [PDF]

Protein Sci
Kapisheva M, Junková P, Vaněk O, Jalovcová Z, Křížová I, Dostálková A, Rumlová M.   +6 more
europepmc   +1 more source

TWEAK/Fn14 Signaling Drives Oxidative Cardiac Injury in Systemic Lupus Erythematosus: Evidence From Patient Biomarker Studies, Lupus Mouse Models, and Cardiomyocyte Assays

Arthritis &Rheumatology, EarlyView.
Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/fibroblast growth factor–inducible 14 (Fn14) signaling in SLE‐related ...
Yale Liu, Zhu Yan, Xueting Peng, Meixuan Li, Juan Wang, Yan Zhang, Xiaoqian Hu, Mingzhu Zhou, Kaixuan Ren, Dan Zhang, Xingyi Guo, Yumin Xia, Huanhuan Huo   +12 more
wiley   +1 more source

Enhancing the efficiency of nuclease-based prime editing in rice with the Tf1 reverse transcriptase. [PDF]

aBIOTECH
Ma G, Xu H, Zhang S, Li X, Liu J, Xie J, Yan F, Zhou H.   +7 more
europepmc   +1 more source