Associated Papers
Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.
Zibetti C
International Journal of Molecular Sciences, 2025
Chinese patients with adult onset leukodystrophy caused by CST3 variants.
Zhang Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024
Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
Buianova A et al.
Plos One, 2024
Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases.
Mhatre I et al.
Scientific Reports, 2023
Analysis of Wild Type and Variant B Cystatin C Interactome in Retinal Pigment Epithelium Cells Reveals Variant B Interacting Mitochondrial Proteins.
Carlsson E et al.
Cells, 2023
Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.
Boukhalfa W et al.
Frontiers in Aging Neuroscience, 2023
Whole-exome sequencing of calcitonin-producing pancreatic neuroendocrine neoplasms indicates a unique molecular signature.
Döring C et al.
Frontiers in Oncology, 2023
Identification of candidate genes in a family with cancer overload by whole-exome sequencing.
Ödemiş DA et al.
The Turkish Journal of Pediatrics, 2022
Surgically treated intradural spinal manifestation of hereditary amyloidogenic transthyretin amyloidosis - A case report and scoping review of the literature.
Voglis S et al.
Brain & Spine, 2022
The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case-control study in the Chinese population.
Xiao X et al.
Cns Neuroscience & Therapeutics, 2021
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
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
Increased Rate of Retinal Pigment Epithelial Cell Migration and Pro-Angiogenic Potential Ensuing From Reduced Cystatin C Expression.
Carlsson E et al.
Investigative Ophthalmology & Visual Science, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Effects of CST3 Gene G73A Polymorphism on Cystatin C in a Prospective Multiethnic Cohort Study.
Mohd Tahir NA et al.
Nephron, 2020
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Zhang C et al.
Genome Biology, 2019
CRISPR/Cas9-mediated one step bi-allelic change of genomic DNA in iPSCs and human RPE cells in vitro with dual antibiotic selection.
Supharattanasitthi W et al.
Scientific Reports, 2019
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.
Chyra Kufova Z et al.
Journal of Clinical Pathology, 2018
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
Loss of Neuroprotective Factors in Neurodegenerative Dementias: The End or the Starting Point?
Benussi L et al.
Frontiers in Neuroscience, 2017
Amyloid properties of the leader peptide of variant B cystatin C: implications for Alzheimer and macular degeneration.
Sant'Anna R et al.
Febs Letters, 2016
Evidence of Alternative Cystatin C Signal Sequence Cleavage Which Is Influenced by the A25T Polymorphism.
Nguyen A et al.
Plos One, 2016
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C et al.
Plos One, 2016
HERC5 is a prognostic biomarker for post-liver transplant recurrent human hepatocellular carcinoma.
Xue F et al.
Journal of Translational Medicine, 2015
A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease.
Butler JM et al.
Human Genetics, 2015
Cystatin C is differentially involved in multiple system atrophy phenotypes.
Urbizu A et al.
Neuropathology and Applied Neurobiology, 2015
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
Couthouis J et al.
Plos Genetics, 2014
Identifying mutated proteins secreted by colon cancer cell lines using mass spectrometry.
Mathivanan S et al.
Journal of Proteomics, 2012
Meta-analysis of the cystatin C(CST3) gene G73A polymorphism and susceptibility to Alzheimer's disease.
Hua Y et al.
The International Journal of Neuroscience, 2012
Cystatin C in Alzheimer's disease.
Kaur G et al.
Frontiers in Molecular Neuroscience, 2012
Association between CST3 rs2424577 polymorphism and corpulence related phenotypes during lifetime in populations of European ancestry.
Hooton H et al.
Obesity Facts, 2011
Quantification of cystatin C in cerebrospinal fluid from various neurological disorders and correlation with G73A polymorphism in CST3.
Yamamoto-Watanabe Y et al.
Brain Research, 2010
Cystatin C in macular and neuronal degenerations: implications for mechanism(s) of age-related macular degeneration.
Paraoan L et al.
Vision Research, 2010
Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study.
Laumet G et al.
Journal of Alzheimer's Disease : Jad, 2010
Genetics, environmental factors and the emerging role of epigenetics in neurodegenerative diseases.
Migliore L et al.
Mutation Research, 2009
Flanking markers of cystatin c (CST3) gene do not show association with Alzheimer's disease.
Helisalmi S et al.
Dementia and Geriatric Cognitive Disorders, 2009
Complexes of amyloid-beta and cystatin C in the human central nervous system.
Mi W et al.
Journal of Alzheimer's Disease : Jad, 2009
Lack of an association between Alzheimer's disease and the cystatin C (CST3) gene G73A polymorphism in Mainland Chinese.
Wang B et al.
Dementia and Geriatric Cognitive Disorders, 2008
Cystatin C modulates cerebral beta-amyloidosis.
Kaeser SA et al.
Nature Genetics, 2007
A dual Golgi- and mitochondria-localised Ala25Ser precursor cystatin C: an additional tool for characterising intracellular mis-localisation leading to increased AMD susceptibility.
Ratnayaka A et al.
Experimental Eye Research, 2007
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
Bertram L et al.
Nature Genetics, 2007
Genotype and plasma concentration of cystatin C in patients with late-onset Alzheimer disease.
Chuo LJ et al.
Dementia and Geriatric Cognitive Disorders, 2007
Genetic analysis of the cystatin C gene in familial and sporadic ALS patients.
Watanabe M et al.
Brain Research, 2006