Associated Papers
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
3D structural insights into the effect of N-glycosylation in human chitotriosidase variant G102S.
Xu X et al.
Biochimica Et Biophysica Acta. General Subjects, 2025
Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.
Dubiela P et al.
Biomolecules, 2024
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism.
Stefanyshyn V et al.
Journal of Molecular Neuroscience : Mn, 2024
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Malinová V et al.
International Journal of Molecular Sciences, 2023
A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids.
Durán A et al.
International Journal of Molecular Sciences, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Evaluation of Circulating Chitotriosidase Activity in Children with Obesity.
Țaranu I et al.
Journal of Clinical Medicine, 2022
Whole-Exome Sequencing Could Distinguish Primary Pulmonary Squamous Cell Carcinoma From Lung Metastases in Individuals With Cervical Squamous Cell Carcinoma.
Li L et al.
Pathology Oncology Research : Por, 2022
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
Chitotriosidase gene polymorphisms and mutations limit the determination of chitotriosidase expression in sarcoidosis.
Csongrádi A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz G et al.
Jimd Reports, 2020
Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease.
Aerts JMFG et al.
Current Opinion in Chemical Biology, 2019
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Chitotriosidase on treatment-naïve patients with Gaucher disease: A genotype vs phenotype study.
Sperb-Ludwig F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
The Genetic Polymorphisms of 24 Base Pair Duplication and Point G102S of Human Chitotriosidase to Bancroftian Filariasis at the Thai⁻Myanmar Border.
Sanprasert V et al.
Pathogens (basel, Switzerland), 2019
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR et al.
Genetics and Molecular Biology, 2019
Genetic and clinical characteristics of Filipino patients with Gaucher disease.
Chiong MAD et al.
Molecular Genetics and Metabolism Reports, 2018
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.
Mavrikiou G et al.
Clinical Biochemistry, 2016
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.
Smid BE et al.
Orphanet Journal of Rare Diseases, 2016
Somatic Variations in Cervical Cancers in Indian Patients.
Das P et al.
Plos One, 2016
Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers.
Mozafari H et al.
Iranian Journal of Child Neurology, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes.
Spinella JF et al.
Bmc Cancer, 2015
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.
John SE et al.
Genomics Data, 2015
Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in amyotrophic lateral sclerosis: a survey clinic-based study.
Pagliardini V et al.
Journal of the Neurological Sciences, 2015
Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian Populations.
Da Silva-José TD et al.
Jimd Reports, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 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