Results 41 to 50 of about 284,051 (203)

FEMORAL ATHEROSCLEROSIS IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA. INFLUENCE OF THE GENETIC DEFECT [PDF]

Atherosclerosis Supplements, 2008
Objective— The purpose of this study was to assess femoral atherosclerosis by ultrasound in patients with molecularly defined heterozygous familial hypercholesterolemia (FH) in comparison with matched control subjects and in relation to mutational class in the LDL receptor and apolipoprotein B (APOB)
Mireia, Junyent, Rosa, Gilabert, Daniel, Zambón, Miguel, Pocoví, Miguel, Mallén, Montserrat, Cofán, Isabel, Núñez, Fernando, Civeira, Diego, Tejedor, Emilio, Ros   +9 more
openaire   +3 more sources

Safety and Effectiveness of Low‐Density Lipoprotein Cholesterol–Lowering Therapy With Evolocumab for Familial Hypercholesterolemia/Hypercholesterolemia in Japan: A Real‐World, Postmarketing, Single‐Arm Study

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Evolocumab is the first monoclonal antibody against proprotein convertase subtilisin/kexin type 9 approved in Japan for familial hypercholesterolemia (FH) and hypercholesterolemia; however, data on its safety and effectiveness in the real ...
Koutaro Yokote, Junya Ako, Kazuo Kitagawa, Nobuhiro Osada, Feng Sheng, Masae Sonoda, Tamio Teramoto   +6 more
doaj   +1 more source

Establishment of a human induced pluripotent stem cell line from a patient with familial hypercholesterolemia carrying a frameshift mutation in LDLR gene

Stem Cell Research
Familial hypercholesterolemia is an autosomal dominant genetic disorder that often leads to abnormally high cholesterol levels in the body, which is closely related to early-onset coronary heart disease.
Yongjuan Ruan, Xiaowei Li, Jianzeng Dong, Youjian Zhang   +3 more
doaj   +1 more source

Lipoprotein (a) levels in children with heterozygous familial hypercholesterolemia [PDF]

КардиоСоматика
BACKGROUND: Recent studies show that lipoprotein (a), or Lp(a), plays a specific role in the development of atherosclerosis. Lp(a) promotes atherogenesis by increasing production of pro-inflammatory cytokines and depositing on the arterial wall.
Liliya F. Galimova, Dinara I. Sadykova, Evgeniia S. Slastnikova, Chulpan D. Khaliullina, Karina R. Salakhova   +4 more
doaj   +1 more source

Therapeutic apheresis in a pregnant woman with heterozygous familial hypercholesterolemia

Nefrología (English Edition)
Zoila Stany Albines Fiestas, María Victoria Rubio Rubio, José Antonio Gimeno Orna, Ana Belén Mañas Martínez, Virginia Arroyo Espallargas, Jordi Bosch Melguizo, Beatriz María Rojas Pérez-Ezquerra, Carmen Criado Mainar, Fernando Anaya-Fernández Lomana, Pablo Iñigo Gil   +9 more
doaj   +3 more sources

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

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

Genetic screening for homozygous and heterozygous familial hypercholesterolemia

The Application of Clinical Genetics, 2010
Familial hypercholesterolemia (FH) is a common inherited disorder that results in premature atherosclerosis. Diagnosis of FH is suspected on the basis of clinical criteria, but confirmation requires genetic testing. In the era of statins, early diagnosis and initiation of treatment can modify disease progression and outcomes.
Izar,Maria C, Machado,Valéria A, Fonseca,Francisco   +2 more
openaire   +4 more sources

Multi‐omics–driven precision medicine

iMeta, EarlyView.
Multi‐omics‐driven precision medicine (MODPM) provides a multiscale, continuously learnable framework that integrates genomics, epigenomics, transcriptomics, proteomics, metabolomics, microbiome profiles, and clinical data. Powered by artificial intelligence and foundation models, MODPM enables cross‐modal representation learning, contextual modeling ...
Huibo Li, Zhe Zhao, Yifan Zhang, Yao Ma, Gaofei Hu, Min Zeng, Zhanqun Yang, Zixuan Zhao, Xin Zhou, Wei Hu, Yuxuan Sun, Meng Su, Jun Li, Matthew Whiteman, Wei Fu, Chao Zhong, Lemin Zheng, Long Chen, Hairong Lv, Rongsheng Zhao, Yi Zhun Zhu   +20 more
wiley   +1 more source

ATP Citrate Lyase in Metabolic Disease: Mechanistic Insights and Clinical Potential

iNew Medicine, EarlyView.
ATP citrate lyase (ACLY) is a central metabolic hub that diverts mitochondrial citrate to fuel de novo lipogenesis, cholesterol biosynthesis, and protein acetylation. Given its robust correlation with pathological changes in multiple human diseases, ACLY inhibitors featuring distinct pharmacological strengths have been developed for therapeutic ...
Wenbiao Wang, Xinyan Li, Honglu Shi, Gaolei Song, Zhifu Xie, Jingya Li   +5 more
wiley   +1 more source