Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Strategies to identify causal common genetic variants and corresponding effector genes for paediatric obesity.
Littleton SH et al.
Pediatric Obesity, 2022
Variants of SLC2A10 may be Linked to Poor Response to Metformin.
Paz-Pacheco E et al.
Journal of the Endocrine Society, 2022
Saturation variant interpretation using CRISPR prime editing.
Erwood S et al.
Nature Biotechnology, 2022
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
Abtahi R et al.
Hereditas, 2022
Novel Indel Variation of NPC1 Gene Associates With Risk of Sudden Cardiac Death.
Zhao W et al.
Frontiers in Genetics, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Individualized Proteogenomics Reveals the Mutational Landscape of Melanoma Patients in Response to Immunotherapy.
Schmitt M et al.
Cancers, 2021
Neurodegeneration in Niemann-Pick Type C Disease: An Updated Review on Pharmacological and Non-Pharmacological Approaches to Counteract Brain and Cognitive Impairment.
Cariati I et al.
International Journal of Molecular Sciences, 2021
Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.
Touma L et al.
Scientific Reports, 2021
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Chiorean A et al.
Scientific Reports, 2020
Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.
Wang C et al.
Human Molecular Genetics, 2020
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
Wang C et al.
Nature Communications, 2019
Vitamin E Metabolic Effects and Genetic Variants: A Challenge for Precision Nutrition in Obesity and Associated Disturbances.
Galmés S et al.
Nutrients, 2018
Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?
Erickson RP
Journal of Applied Genetics, 2018
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity.
Lamri A et al.
Endocrine Reviews, 2018
Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
Bountouvi E et al.
Bmc Medical Genetics, 2017
Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.
Pipalia NH et al.
Journal of Lipid Research, 2017
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
De Castro-Orós I et al.
Journal of Translational Medicine, 2017
Association between the rs1805081 polymorphism of Niemann-Pick type C1 gene and cardiovascular disease in a sample of an Iranian population.
Afzali M et al.
Biomedical Reports, 2017
Gene-nutrient interactions and susceptibility to human obesity.
Castillo JJ et al.
Genes & Nutrition, 2017
Genome sequencing in a case of Niemann-Pick type C.
Dougherty M et al.
Cold Spring Harbor Molecular Case Studies, 2016
Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.
Adebali O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.
Marques AR et al.
Plos One, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Extreme obesity is associated with variation in genes related to the circadian rhythm of food intake and hypothalamic signaling.
Mariman EC et al.
Physiological Genomics, 2015
Genetic studies of body mass index yield new insights for obesity biology.
Locke AE et al.
Nature, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.
Macías-Vidal J et al.
The Febs Journal, 2014
GWAS-identified common variants for obesity are not associated with the risk of developing colorectal cancer.
Sainz J et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2014
Impact of obesity-related genes in Spanish population.
Martínez-García F et al.
Bmc Genetics, 2013
The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage has impaired glucose tolerance independent of body weight.
Jelinek D et al.
Gene, 2013
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
Stampfer M et al.
Orphanet Journal of Rare Diseases, 2013
Evaluation of common genetic variants identified by GWAS for early onset and morbid obesity in population-based samples.
den Hoed M et al.
International Journal of Obesity (2005), 2013
Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes.
Al-Daghri NM et al.
Bmc Medicine, 2012
The role of decreased levels of Niemann-Pick C1 intracellular cholesterol transport on obesity is reversed in the C57BL/6J, metabolic syndrome mouse strain: a metabolic or an inflammatory effect?
Borbon I et al.
Journal of Applied Genetics, 2012
SNP-based large-scale identification of allele-specific gene expression in human B cells.
Song MY et al.
Gene, 2012
Genetic variation in the mouse model of Niemann Pick C1 affects female, as well as male, adiposity, and hepatic bile transporters but has indeterminate effects on caveolae.
Jelinek DA et al.
Gene, 2012
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2011
Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.
Tängemo C et al.
Journal of Lipid Research, 2011
Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance.
Jelinek D et al.
Human Molecular Genetics, 2011
Interaction of functional NPC1 gene polymorphism with smoking on coronary heart disease.
Ma W et al.
Bmc Medical Genetics, 2010
Decreased Npc1 gene dosage in mice is associated with weight gain.
Jelinek D et al.
Obesity (silver Spring, Md.), 2010
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
Meyre D et al.
Nature Genetics, 2009
NPC-db, a Niemann-Pick type C disease gene variation database.
Runz H et al.
Human Mutation, 2008
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
Fernandez-Valero EM et al.
Clinical Genetics, 2005
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
Yang CC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park WD et al.
Human Mutation, 2003