Results 51 to 60 of about 128,840 (306)

Renal Expression of Monocyte Chemoattractant Protein-1 in Low-Density Lipoprotein Receptor Knockout Mice with Diet-Induced Hypercholesterolemia [PDF]

, 1999
Abnormalities in lipid metabolism appear to play a pivotal role in progressive renal diseases.Monocyte chemoattractant protein (MCP)-1 plays pivotal roles in several inflammatory conditions including renal damage in diabetes.However,the pathogenesis of ...
林, 晋一郎, 磯部, 光章, 鈴木, 淳一, 加藤, 真帆人   +3 more
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A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Immune Modulatory Effects of Hypercholesterolemia: Can Atorvastatin Convert the Detrimental Effect of Hypercholesterolemia on the Immune System?

Iranian Journal of Allergy, Asthma and Immunology, 2019
Many observations showed that hypercholesterolemia can disrupt immune response. Statin drugs that were used for the treatment of hypercholesterolemia patients can interfere in the regulation of the immune response and cytokine secretion.
Zeinab Emruzi, Pegah Babaheidarian, Mahmoud Arshad, Hannes Stockinger, Ghasem Ahangari   +4 more
doaj   +1 more source

A Scoping Review of Electronic Health Records–Based Screening Algorithms for Familial Hypercholesterolemia [PDF]

BackgroundFamilial hypercholesterolemia (FH) is a common genetic disorder that is strongly associated with premature cardiovascular disease. Effective diagnosis and appropriate treatment of FH can reduce cardiovascular disease risk; however, FH is ...
Khoury, Muin J., Otchere, Baffour, Osei, Jeffery, Coronado, Fatima, Akyea, Ralph K., Bonful, Gracelove, Razavi, Alexander C., Akoto, Natalie, Kolor, Katherine, Mensah, George A., Sperling, Laurence, Moonesinghe, Ramal, Qureshi, Nadeem   +12 more
core   +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

Ocular manifestations of severe familial hypercholesterolemia

Heliyon
Background: To study ocular manifestations of patients with severe familial hypercholesterolemia (FH). Methods: In this population-based case-control study, patients suffering from severe familial hypercholesterolemia from the Lebanese Familial ...
Alaa Bou Ghannam, Rachid Istambouli, Mohamed S. Hamam, Jean M. Chalhoub, Akl C. Fahed, Rola N. Hamam   +5 more
doaj   +1 more source

Patient with homozygous familial hypercholesterolemia: difficult to treat. Case report

, 2020
Homozygous familial hypercholesterolemia is a severe genetic disorder characterized by extremely high levels of total cholesterol and low-density lipoprotein cholesterol (LDL-C), as well as by rapid atherosclerosis progression in various vascular ...
Andrey V. Susekov, Irina V. Leontieva, Balakhonova T.V., Vladislav M. Soloviev, Irina M. Miklashevich, Yuliia S. Isaeva   +5 more
core   +1 more source

Neutrophil Extracellular Traps Block Fibrinolysis in Ischemic Stroke

Annals of Neurology, EarlyView.
Objectives Intravenous thrombolysis (IVT) failure in acute ischemic stroke (AIS) is frequent, but its causes remain elusive. We investigated whether biologically relevant intrathrombus concentrations of tissue plasminogen activator (tPA) were achieved in failed IVT and whether neutrophil extracellular traps (NETs) contributed to this therapeutic ...
Mialitiana Solo Nomenjanahary, Jean‐Philippe Desilles, Fatima Zemali, Astride Perrot, Lucas Di Meglio, Sara Zalghout, Jéromine Fasille, Jérémy Neel, Stéphane Loyau, Julien Labreuche, Marie‐Charlotte Bourrienne, Dorothée Faille, François Delvoye, Véronique Ollivier, Sébastien Dupont, Jasmina Rogozarski, Nahida Brikci‐Nigassa, Robert L. Medcalf, Nadine Ajzenberg, Mikael Mazighi, Benoît Ho‐Tin‐Noé, the compoCLOT Study Group   +21 more
wiley   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

Mecanismos moleculares que relacionam a hipercolesterolemia familiar à doença de Alzheimer [PDF]

, 2015
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Bioquímica, Florianópolis, 2015.A hipercolesterolemia familiar é uma doença do metabolismo das lipoproteínas causada por anormalidades ...
Oliveira, Jade de
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