Results 51 to 60 of about 299,280 (207)

Emerging Treatments for Heterozygous and Homozygous Familial Hypercholesterolemia

Reviews in Cardiovascular Medicine, 2016
Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder marked by extremely high low-density lipoprotein (LDL) cholesterol levels and concomitant premature vascular disease. FH is caused by mutations that most commonly affect three genes integrally involved in the LDL receptor's ability to clear LDL particles from the circulation ...
Seth J, Baum, Daniel, Soffer, P, Barton Duell   +2 more
openaire   +2 more sources

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

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

High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry

, 2018
International audienceBackground and aims: Cardiovascular risk is high in heterozygous familial hypercholesterolemia (HeFH). The objective of this study was to describe recurrent cardiovascular events in selected patients with HeFH attending lipid ...
Varret, Mathilde, Durlach, V., Pradignac, A., Lalau, D., Benlian, P., Hankard, R., Valéro, R., Dulong, S., Moulin, P., Vergès, B., Ziegler, O., Carrié, Alain, Farnier, Michel, Ferrières, Jean, Valero, Rene, Pucheu, Y., Yelnik, C., Cariou, Bertrand, Peretti, Noël, Bruckert, Eric, Saheb, S., Lefort, B., Girardet, P., Boccara, Franck, Gallo, A., Collet, Xavier, Béliard, Sophie, Krempf, Michael, Beliard, S., Lemale, J., Sultan, A., Carreau, V., Ducluzeau, P., Di Filippo, Mathilde, Ferrari, E., Paillard, F., Vimont, Alexandre, Tounian, P., Rabès, Jean Pierre, Boileau, C., Angoulvant, D., Charriere, Sybil, Bruckert, E., Carrie, A., Varret, M., Vimont, A., Farnier, M., Cariou, B., Boccara, F., Krempf, M., Ferrieres, J., Rabes, J. P., Collet, X., French, F. H. Registry Grp   +53 more
core   +2 more sources

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

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

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

Salivary cholesterol level does not reflect cholesterolemia in children with heterozygous familial hypercholesterolemia

, 2023
International audienceObjectivesHeterozygous familial hypercholesterolemia is a common genetic disease responsible for premature atherosclerosis. Therefore, early diagnosis and treatment are recommended to reduce cardiovascular risk.
Croyal, Mikael, Mathilde Di Filippo, Pierre Poinsot, Cédric Sage, Noel Peretti, Brignot, Hélène, Séverine Nony, Peretti, Noel, Poinsot, Pierre, Hélène Brignot, Nony, Séverine, Moulin, Philippe, Marianne Fricaudet, Feron, Gilles, Peron, Marie Anais, Rémi Duclaux Loras, Duclaux Loras, Rémi, Marie Anais Peron, Sybil Charriere, Mikael Croyal, Sage, Cédric, Di Filippo, Mathilde, Fricaudet, Marianne, Philippe Moulin, Gilles Feron, Charriere, Sybil   +25 more
core   +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

Anti‐hypercholesterolemic effects of barley and its role in the management of metabolic disorders: A comprehensive review

JSFA reports, EarlyView.
Abstract The dietary and lifestyle practices have predominantly compromised human health, which are influenced by modernization and industrialization. Hypercholesterolemia, caused by the consumption of fatty and fried foods and a sedentary lifestyle, is a major modifiable risk factor for cardiovascular disease and commonly coexists with obesity ...
Muhammad Usman Khalid, Muhammad Tauseef Sultan, Sagun Kharel, Umrah Zafar, Naima Tariq, Muhammad Maaz, Mutjardah Zarrish, Nuzhat Shamim, Bipindra Pandey   +8 more
wiley   +1 more source