Cargando…

p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro

Familial Hypercholesterolemia (FH) is a common genetic disorder caused most often by mutations in the Low Density Lipoprotein Receptor gene (LDLr) leading to high blood cholesterol levels, and ultimately to development of premature coronary heart disease. Genetic analysis and subsequent cascade scre...

Descripción completa

Detalles Bibliográficos
Autores principales:	Benito-Vicente, A., Siddiqi, H., Uribe, K. B., Jebari, S., Galicia-Garcia, U., Larrea-Sebal, A., Stef, M., Ostolaza, H., Palacios, L., Martin, C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226515/ https://www.ncbi.nlm.nih.gov/pubmed/30413722 http://dx.doi.org/10.1038/s41598-018-34715-x

Ejemplares similares

Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition
por: Benito-Vicente, A., et al.
Publicado: (2018)

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR
por: Galicia-Garcia, Unai, et al.
Publicado: (2020)

Statin Treatment-Induced Development of Type 2 Diabetes: From Clinical Evidence to Mechanistic Insights
por: Galicia-Garcia, Unai, et al.
Publicado: (2020)

Pathophysiology of Type 2 Diabetes Mellitus
por: Galicia-Garcia, Unai, et al.
Publicado: (2020)

MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants
por: Larrea-Sebal, Asier, et al.
Publicado: (2021)

Cholesterol Efflux Efficiency of Reconstituted HDL Is Affected by Nanoparticle Lipid Composition
por: Jebari-Benslaiman, Shifa, et al.
Publicado: (2020)

Effect on cell survival and cytoophidium assembly of the adRP-10-related IMPDH1 missense mutation Asp226Asn
por: Keppeke, Gerson Dierley, et al.
Publicado: (2023)

Molecular Role of Asn680Ser and Asp37Glu Missense Variants in Saudi Women with Female Infertility and Polycystic Ovarian Syndrome
por: Alshammary, Amal F., et al.
Publicado: (2023)

Prognostic significance of the genetic variant of lymphotoxin alpha (p.Thr60Asn) in egyptian patients with advanced hepatocellular carcinoma
por: Alhelf, Maha, et al.
Publicado: (2023)

SELP Asp603Asn and severe thrombosis in COVID-19 males
por: Fallerini, Chiara, et al.
Publicado: (2021)

ASN guidelines on P values
por: Verhoef, Hans, et al.
Publicado: (2022)

Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene
por: Marian, Ali J.
Publicado: (2017)

Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn
por: Efthymiou, Stephanie, et al.
Publicado: (2023)

Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia: From Molecular Mechanisms Causing Pathogenicity to New Therapeutic Approaches
por: Jebari-Benslaiman, Shifa, et al.
Publicado: (2023)

Association between the ERCC2 Asp312Asn polymorphism and risk of cancer
por: Xiao, Feifan, et al.
Publicado: (2017)

Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males
por: Fallerini, Chiara, et al.
Publicado: (2023)

Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM Mutation p.Asp253Asn and Absent EPCAM Expression
por: Ozler, Oğuz, et al.
Publicado: (2020)

Pathophysiology of Atherosclerosis
por: Jebari-Benslaiman, Shifa, et al.
Publicado: (2022)

Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies
por: Larrea-Sebal, Asier, et al.
Publicado: (2023)

Association between the p.Thr1406Asn polymorphism of the carbamoyl-phosphate synthetase 1 gene and necrotizing enterocolitis: A prospective multicenter study
por: Moonen, Rob M., et al.
Publicado: (2016)

Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome
por: Wonkam, Ambroise, et al.
Publicado: (2013)

Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr
por: Li, Dandan, et al.
Publicado: (2020)

The PINK1 p.Asn521Thr Variant Is Associated with Earlier Disease Onset in GRN/C9orf72 Frontotemporal Lobar Degeneration
por: Rossi, Giacomina, et al.
Publicado: (2022)

The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome
por: Xu, Yanjiang, et al.
Publicado: (2022)

T190. ASSOCIATION OF THE HUMAN MU-OPIOID RECEPTOR GENE POLYMORPHISM ASN40ASP WITH SCHIZOPHRENIA
por: Li, Anna, et al.
Publicado: (2018)

Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon
por: Schucht, Sylvia, et al.
Publicado: (2019)

First Observation of Hemoglobin Kansas [β102(G4)Asn→Thr, AAC>ACC] in the Turkish Population
por: Keser, İbrahim, et al.
Publicado: (2015)

Determination of Hexapeptide ALA-ASP-LEU-LYS-PRO-THR by MALDI MS
por: Olejnik, Anna, et al.
Publicado: (2012)

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family
por: Ghafoor, Saima, et al.
Publicado: (2022)

Correlation of L-asp Activity, Anti-L-asp Antibody, Asn and Gln With Adverse Events Especially Anaphylaxis Risks in PEG-asp-Contained Regime Treated Pediatric ALL Patients
por: Wu, Juan, et al.
Publicado: (2020)

Comment on “Correlation of L-asp Activity, Anti-L-asp Antibody, asn and gln with Adverse Events Especially Anaphylaxis Risks in PEG-asp-Contained Regime Treated Pediatric ALL”
por: Tong, Wing H.
Publicado: (2021)

Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject
por: Larrea-Sebal, Asier, et al.
Publicado: (2023)

Isolation of Carbene‐Stabilized Arsenic Monophosphide [AsP] and its Radical Cation [AsP](+.) and Dication [AsP](2+)
por: Doddi, Adinarayana, et al.
Publicado: (2019)

Author Response: Correlation of L-asp Activity, Anti-L-asp Antibody, Asn and Gln with Adverse Events Especially Anaphylaxis Risks in PEG-asp-Contained Regime Treated Pediatric ALL Patients
por: Zhang, Shunguo
Publicado: (2021)

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants
por: Benito-Vicente, Asier, et al.
Publicado: (2018)

Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
por: Benito-Vicente, Asier, et al.
Publicado: (2018)

A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency
por: Wang, Chun, et al.
Publicado: (2020)

Simultaneous Assessment of Asp Isomerization and Asn Deamidation in Recombinant Antibodies by LC-MS following Incubation at Elevated Temperatures
por: Diepold, Katharina, et al.
Publicado: (2012)

XPD Asp312Asn and Lys751Gln polymorphisms and breast cancer susceptibility: A meta-analysis
por: Yan, Yulan, et al.
Publicado: (2013)

A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
por: van Riel, Els, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_hmj2qcv4mf4c4bbmil0aev7878