Associated Papers
Plasma proteome variation and its genetic determinants in children and adolescents.
Niu L et al.
Nature Genetics, 2025
First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family.
Suvorina MY et al.
International Journal of Molecular Sciences, 2023
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology.
Marongiu M et al.
Human Molecular Genetics, 2023
Lysozyme amyloidosis-a report on a large German cohort and the characterisation of a novel amyloidogenic lysozyme gene variant.
Anker S et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
Determination of deleterious single-nucleotide polymorphisms of human LYZ C gene: an in silico study.
Venkata Subbiah H et al.
Journal, Genetic Engineering & Biotechnology, 2022
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review.
Li Z et al.
Bmc Nephrology, 2019
Complex p.T88N/W130R mutation in the lysozyme gene leading to hereditary lysozyme amyloidosis with biopsy-proven cardiac involvement.
Sperry BW et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C et al.
Plos One, 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 proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Identification and analysis of deleterious human SNPs.
Yue P et al.
Journal of Molecular Biology, 2006
ALys amyloidosis caused by compound heterozygosity in exon 2 (Thr70Asn) and exon 4 (Trp112Arg) of the lysozyme gene.
Röcken C et al.
Human Mutation, 2006