Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease.
David H et al.
International Journal of Molecular Sciences, 2024
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
Strategies to identify causal common genetic variants and corresponding effector genes for paediatric obesity.
Littleton SH et al.
Pediatric Obesity, 2022
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
Abtahi R et al.
Hereditas, 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
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
Ewing AD et al.
American Journal of Medical Genetics. Part A, 2021
Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.
Touma L et al.
Scientific Reports, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
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
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity.
Lamri A et al.
Endocrine Reviews, 2018
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
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
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
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
Genetic studies of body mass index yield new insights for obesity biology.
Locke AE et al.
Nature, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
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
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes.
Al-Daghri NM et al.
Bmc Medicine, 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
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
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
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.
Di Leo E et al.
Human Mutation, 2004
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
Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.
Klünemann HH et al.
Annals of Neurology, 2002
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
Tarugi P et al.
Journal of Lipid Research, 2002
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
Bauer P et al.
Human Mutation, 2002
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
Ribeiro I et al.
Human Genetics, 2001
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.
Millat G et al.
American Journal of Human Genetics, 1999
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
Yamamoto T et al.
Human Genetics, 0
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
Millat G et al.
Molecular Genetics and Metabolism, 0
Differential Association of Niemann-Pick C1 Gene Polymorphisms with Maternal Prepregnancy Overweight and Gestational Diabetes.
Garver WS et al.
Journal of Diabetes and Obesity, 0