Results 151 to 160 of about 59,377 (261)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source

Water extract of Semecarpus parvifolia Thw. leaves inhibits cell proliferation and induces apoptosis on HEp-2 cells. [PDF]

BMC Complement Altern Med, 2018
Soysa P, Jayarthne P, Ranathunga I.
europepmc   +1 more source

Hippocampal Seizure‐Related Burden is Associated with Accelerated Long‐Term Forgetting in Focal Epilepsy

Annals of Neurology, EarlyView.
Objective Memory impairment is a frequent comorbidity of focal epilepsy, incompletely explained by seizure frequency or structural pathology. Ictal and postictal hippocampal dysfunction disrupt memory processes, but their cumulative impact remains poorly quantified.
Ionuț‐Flavius Bratu, Isabelle Lambert, Olivier Felician, Samuel Medina Villalon, Agnès Trébuchon, Fabrice Bartolomei   +5 more
wiley   +1 more source

Corrigendum to "Curcumin Analogue CA15 Exhibits Anticancer Effects on HEp-2 Cells via Targeting NF-κB". [PDF]

Biomed Res Int, 2017
Chen J, Zhang L, Shu Y, Chen L, Zhu M, Yao S, Wang J, Wu J, Liang G, Wu H, Li W.   +10 more
europepmc   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Bio-fabrication of pigment-capped silver nanoparticles encountering antibiotic-resistant strains and their cytotoxic effect towards human epidermoid larynx carcinoma (HEp-2) cells. [PDF]

RSC Adv, 2019
Muthukrishnan L, Chellappa M, Nanda A, Thukkaram S, Selvaraj G, Muthiah B, Sagadevan S, Sagadevan S, Lett JA, Lett JA.   +9 more
europepmc   +1 more source

In Vivo Nb4C3Tx MXene‐Assisted Photothermal Therapy of Melanoma in Mice

Advanced NanoBiomed Research, EarlyView.
Nb4C3Tx MXene converts pulsed 1064 nm irradiation into localized heat, producing concentration‐ and time‐dependent melanoma cell killing in vitro and suppressing tumor growth in mice. Histology reveals extensive tumor damage, macrophage‐associated material clearance, and no detectable persistent deposits in examined visceral organs, supporting Nb4C3Tx ...
Anton Roshchupkin, Benjamin Chacon, Gulnaz Gahramanova, Inna Chorna, Zhanna Klishchova, Anastasia Konieva, Ilya Yanko, Andrii Liutyi, Milena Yalyzhko, Ivan Baginskiy, Veronika Zahorodna, Júlio Sílvio de Sousa Bueno Filho, Erfan Rezvani Ghomi, Igor Panko, Tetiana Shapochka, Oksana Sulaieva, Oleksandr Solodovnyk, Lucia Gemma Delogu, Oleksiy Gogotsi, Laura Fusco, Sergiy Kyrylenko, Yury Gogotsi, Maksym Pogorielov   +22 more
wiley   +1 more source

Silk Fibroin for Cardiovascular Medical Devices: Review of Material Properties, Applications, and Clinical Potential

Advanced NanoBiomed Research, EarlyView.
Silk fibroin is an attractive natural biomaterial that can be engineered into diverse cardiovascular constructs, including vascular grafts, cardiac patches, heart valves, and stent coatings. Its tunable biological and mechanical properties have driven substantial preclinical progress; however, widespread clinical translation in cardiovascular ...
Mahsa Haghighattalab, Matt Govendir, Kristina Andelovic, Zachary Och, Fatemeh Karimi, Munira Xaymardan, Tomasz Jungst, Jelena Rnjak‐Kovacina, Nona Farbehi   +8 more
wiley   +1 more source

Effects of aspirin on proliferation, invasion and apoptosis of Hep-2 cells via the PTEN/AKT/NF-κB/survivin signaling pathway. [PDF]

Oncol Lett, 2018
Jin M, Li C, Zhang Q, Xing S, Kan X, Wang J.   +5 more
europepmc   +1 more source