Associated Papers
Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.
Gaebler C et al.
Nature, 2026
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.
Godbole NP et al.
Annals of Clinical and Translational Neurology, 2024
Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.
Huang YC et al.
Journal of Personalized Medicine, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
Natural History of Adult Patients with GM2 Gangliosidosis.
Masingue M et al.
Annals of Neurology, 2020
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.
Feng L et al.
Journal of Oncology, 2019
NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.
Wang B et al.
Scientific Reports, 2018
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
Mahdieh N et al.
Clinical Neurology and Neurosurgery, 2018
Identification of mutations in HEXA and HEXB in Sandhoff and Tay-Sachs diseases: a new large deletion caused by Alu elements in HEXA.
Dastsooz H et al.
Human Genome Variation, 2018
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
Zhang W et al.
Metabolic Brain Disease, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].
Huang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.
Fitterer B et al.
Molecular Genetics and Metabolism, 2014
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.
Kang SY et al.
Journal of Clinical Neuromuscular Disease, 2013
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
Vallance H et al.
Molecular Genetics and Metabolism, 2006
MRS reveals additional hexose N-acetyl resonances in the brain of a mouse model for Sandhoff disease.
Lowe JP et al.
Nmr in Biomedicine, 2005
Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.
Utsumi K et al.
Acta Neurologica Scandinavica, 2002
Molecular and structural studies of the GM2 gangliosidosis 0 variant.
Sakuraba H et al.
Journal of Human Genetics, 2002
Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case.
Hara A et al.
Journal of the Neurological Sciences, 1998
A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.
Zhang ZX et al.
Human Molecular Genetics, 1995
A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.
Ahn SW et al.
Neurology India, 0