Cargando…

Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis

BACKGROUND: Variants in the lipoprotein lipase (LPL), apolipoprotein C-II (APOC2), apolipoprotein A-V (APOA5), GPIHBP1 and LMF1 genes may cause severe hypertriglyceridemia (HTG), which is now the second-leading aetiology of acute pancreatitis in China. METHODS: The patient and his family were assess...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Xiaoyao, Yang, Qi, Shi, Xiaolei, Chen, Weiwei, Pu, Na, Li, Weiqin, Li, Jieshou
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6009947/ https://www.ncbi.nlm.nih.gov/pubmed/29921298 http://dx.doi.org/10.1186/s12944-018-0789-2

Ejemplares similares

Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia‐induced acute pancreatitis in pregnancy
por: Shi, Xiao‐Lei, et al.
Publicado: (2020)

Amelioration of Hypertriglyceridemia with Hypo-Alpha-Cholesterolemia in LPL Deficient Mice by Hematopoietic Cell-Derived LPL
por: Ding, Yinyuan, et al.
Publicado: (2011)

Significantly different clinical features between hypertriglyceridemia and biliary acute pancreatitis: a retrospective study of 730 patients from a tertiary center
por: Li, Xiaoyao, et al.
Publicado: (2018)

Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis
por: Li, Xiao-Yao, et al.
Publicado: (2020)

LPL gene Pvu II polymorphism and hypertriglyceridemia: a meta-analysis involving 1,640 subjects
por: Li, Yan-yan, et al.
Publicado: (2017)

A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia
por: Guo, Danxia, et al.
Publicado: (2022)

Ancient DNA preserved in small bone fragments from the P.W. Lund collection
por: Seersholm, Frederik V., et al.
Publicado: (2021)

The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans
por: Ahmad, Ilyas, et al.
Publicado: (2023)

The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function
por: Hu, Yuepeng, et al.
Publicado: (2023)

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa
por: Katagiri, Satoshi, et al.
Publicado: (2014)

Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FH(Marburg) (FH p.W556R)
por: Schaefer, Juergen R., et al.
Publicado: (2012)

A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene
por: Daida, Kensuke, et al.
Publicado: (2022)

Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
por: Ariza, María-José, et al.
Publicado: (2010)

Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F)
por: Al-Ghadeer, Huda, et al.
Publicado: (2011)

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

Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome
por: Micaglio, Emanuele, et al.
Publicado: (2019)

Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report
por: Wen, Xiao-Ling, et al.
Publicado: (2022)

P.L. Nervi. Nuevas estructuras.
por: Nervi, Pier Luigi
Publicado: (1963)

A 21.4 pW Subthreshold Voltage Reference with 0.020 %/V Line Sensitivity Using DIBL Compensation
por: Colbach, Louis, et al.
Publicado: (2023)

Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date
por: Zhang, Guofu, et al.
Publicado: (2023)

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)

Dimuon production in the 1-3 GeV/c$^{2}$ mass range in pW and SW reactions at 200 GeA
por: Antos, J
Publicado: (1993)

Description of a SDHD c.129G>A (p.W43X) Mutation With Variable Presentation in Multiple Family Members
por: Greenberg, Samantha, et al.
Publicado: (2021)

Academician P.L. Kapitza visits CERN
por: CERN PhotoLab
Publicado: (1975)

Molecular Analysis of Tumor Suppressor Genes, Rb, p53,pl6INK4A, pl5INK4B and p14ARF in Natural Killer Cell Neoplasms
por: Sakajiri, Sakura, et al.
Publicado: (2001)

P279 Invasive Trichosporonosis: an emerging blood stream fungal infection in immunocompromised patients
por: Mukherjee, Dip Narayan, et al.
Publicado: (2022)

Sonatas KV 279-282
por: Mozart, Wolfgang Amadeus, 1756-1791
Publicado: (1996)

Health Tract, No. 279: Madness
Publicado: (1867)

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation
por: Schuld, Julia, et al.
Publicado: (2020)

The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration
por: Agbaga, Martin-Paul, et al.
Publicado: (2020)

Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking
por: Chen, Wei-Wei, et al.
Publicado: (2019)

P279: Infection prevention and control program in developing countries: achievements, challenges and opportunities in Cambodia
por: Sok, S, et al.
Publicado: (2013)

Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA
por: Fu, Jiewen, et al.
Publicado: (2020)

Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency
por: Colima Fausto, Ana Gabriela, et al.
Publicado: (2017)

Purification and Characterization of Plantaricin LPL-1, a Novel Class IIa Bacteriocin Produced by Lactobacillus plantarum LPL-1 Isolated From Fermented Fish
por: Wang, Yao, et al.
Publicado: (2018)

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia
por: Cao, Henian, et al.
Publicado: (2008)

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient
por: Liu, Yihui, et al.
Publicado: (2019)

MiR-279-3p regulates deltamethrin resistance through CYP325BB1 in Culex pipiens pallens
por: Li, Xixi, et al.
Publicado: (2021)

An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T > C) mutation in the SMPD1 gene
por: Baskfield, Amanda, et al.
Publicado: (2019)

PW-I for all? Not yet
por: Smith, A.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_q7kksvsbcbt0fhtmt2a2v3942i