Cargando…

Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia

BACKGROUND: Type I hyperlipoproteinemia, characterized by severe hypertriglyceridemia, is caused mainly by loss-of-function mutation of the lipoprotein lipase (LPL) gene. To date, more than 200 mutations in the LPL gene have been reported, while only a limited number of mutations have been evaluated...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Shuping, Cheng, Yiping, Shi, Yingzhou, Zhao, Wanyi, Gao, Ling, Fang, Li, Jin, Xiaolong, Han, Xiaoyan, Sun, Qiuying, Li, Guimei, Zhao, Jiajun, Xu, Chao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9339609/ https://www.ncbi.nlm.nih.gov/pubmed/35923617 http://dx.doi.org/10.3389/fendo.2022.874608

Ejemplares similares

SUN-056 Recurrent Pancreatitis Induced by Uncontrolled Type V Hyperlipoproteinemia
por: Rivera Rivero, Bianshly, et al.
Publicado: (2019)

Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees
por: Jiang, Feng, et al.
Publicado: (2021)

Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants
por: Kassner, Ursula, et al.
Publicado: (2015)

Therapeutic management of hyperlipoproteinemia (a)
por: Kosmas, Constantine E, et al.
Publicado: (2019)

Lipoprotein(a)-hyperlipoproteinemia as cause of chronic spinal cord ischemia resulting in progressive myelopathy – successful treatment with lipoprotein apheresis
por: Heigl, Franz, et al.
Publicado: (2017)

Lipoprotein Lipase Expression in Hypothalamus Is Involved in the Central Regulation of Thermogenesis and the Response to Cold Exposure
por: Laperrousaz, Elise, et al.
Publicado: (2018)

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
por: Yang, Bin, et al.
Publicado: (2018)

Heterozygous lipoprotein lipase knockout mice exhibit impaired hematopoietic stem/progenitor cell compartment
por: Shi, Guiying, et al.
Publicado: (2021)

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees
por: Kamphans, Tom, et al.
Publicado: (2013)

Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia
por: Kong, Lingchi, et al.
Publicado: (2019)

Novel Pharmacological Therapies for the Management of Hyperlipoproteinemia(a)
por: Kosmas, Constantine E., et al.
Publicado: (2023)

SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes Mellitus
por: Ludwig, Karissa, et al.
Publicado: (2019)

Compound Heterozygous Variants of the CPAMD8 Gene Co-Segregating in Two Chinese Pedigrees With Pigment Dispersion Syndrome/Pigmentary Glaucoma
por: Tan, Junkai, et al.
Publicado: (2022)

Clinical benefit of long-term lipoprotein apheresis in patients with severe hypercholesterolemia or Lp(a)-hyperlipoproteinemia with progressive cardiovascular disease
por: Heigl, Franz, et al.
Publicado: (2015)

SUN-087 Effects of Leptin Replacement on Circulating Plasma Inhibitors of Lipoprotein Lipase in Patients with Lipodystrophy
por: Lightbourne, Marissa, et al.
Publicado: (2019)

Eruptive Xanthomas Caused by Primary Type V Hyperlipoproteinemia
por: Nakamura, Yoshihiro, et al.
Publicado: (2021)

Hyperlipoproteinemia(a) and Severe Coronary Artery Lesion Types
por: Ilina, Larisa N., et al.
Publicado: (2022)

A Case of Type V Hyperlipoproteinemia Resistant to Insulin Treatment
por: Mangeshkar, Shaunak, et al.
Publicado: (2023)

Lipoprotein Lipase/Apolipoprotein Cll Gene Polymorphism in Kurdish Patients With Severe Hypertriglyceridemia
por: Hussein, Kajeen, et al.
Publicado: (2023)

Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
por: Zhou, Yong‐An, et al.
Publicado: (2019)

Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease
por: Zhang, Jianping, et al.
Publicado: (2016)

Volanesorsen, an Antisense Oligonucleotide to Apolipoprotein-CIII, Decreases Triglycerides and Increases Lipoprotein Lipase Activity in Partial Lipodystrophy
por: Lightbourne, Marissa, et al.
Publicado: (2021)

Report of two pedigrees with heterozygous HTRA1 variants‐related cerebral small vessel disease and literature review
por: Zhou, Hui, et al.
Publicado: (2022)

Reproductive endocrine characteristics and in vitro fertilization treatment of female patients with partial 17α-hydroxylase deficiency: Two pedigree investigations and a literature review
por: Jiang, Shutian, et al.
Publicado: (2022)

Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency
por: Li, Yakun, et al.
Publicado: (2022)

Hyperlipoproteinemia (a) is associated with breast cancer in a Han Chinese population
por: Xu, Jing, et al.
Publicado: (2020)

Primary and secondary prevention of cardiovascular disease in patients with hyperlipoproteinemia (a)
por: Grützmacher, P., et al.
Publicado: (2017)

A rare case of COVID-19 pneumonia with severe hyperlipoproteinemia
por: Shimoda, Masafumi, et al.
Publicado: (2022)

SUN-245 Heterozygous GH1 p.R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern
por: Sanguineti, Nora, et al.
Publicado: (2019)

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations
por: Zhang, Jian-hui, et al.
Publicado: (2021)

Characterization of Behavioral Phenotypes in Heterozygous DAT Rat Based on Pedigree
por: Zanfino, Gioia, et al.
Publicado: (2023)

Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes
por: Wu, Huixiao, et al.
Publicado: (2023)

Comparative Analyses of Lipoprotein Lipase, Hepatic Lipase, and Endothelial Lipase, and Their Binding Properties with Known Inhibitors
por: Wang, Ziyun, et al.
Publicado: (2013)

Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts
por: Fu, Xian‐Guo, et al.
Publicado: (2019)

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree
por: Chen, Yixin, et al.
Publicado: (2018)

Modern prevalence of dysbetalipoproteinemia (Fredrickson-Levy-Lees type III hyperlipoproteinemia)
por: Pallazola, Vincent A., et al.
Publicado: (2019)

Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases
por: Wu, Yun Qin, et al.
Publicado: (2021)

Prevention of cardiovascular complications in patients with Lp(a)-hyperlipoproteinemia and progressive cardiovascular disease by long-term lipoprotein apheresis according to German national guidelines
por: Klingel, Reinhard, et al.
Publicado: (2017)

Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism
por: Zhang, Cao-Xu, et al.
Publicado: (2021)

A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene
por: Zhou, Yunguo, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_pnmgq5r8n2aq8li6ol3b9121vi