Origins and immunopathogenesis of autoimmune central nervous system disorders
The field of autoimmune neurology is rapidly evolving, and recent discoveries have
advanced our understanding of disease aetiologies. In this article, we review the key …
advanced our understanding of disease aetiologies. In this article, we review the key …
CNV detection from exome sequencing data in routine diagnostics of rare genetic disorders: opportunities and limitations
B Royer-Bertrand, K Cisarova, F Niel-Butschi… - Genes, 2021 - mdpi.com
To assess the potential of detecting copy number variations (CNVs) directly from exome
sequencing (ES) data in diagnostic settings, we developed a CNV-detection pipeline based …
sequencing (ES) data in diagnostic settings, we developed a CNV-detection pipeline based …
[HTML][HTML] Tripeptidyl peptidase II coordinates the homeostasis of calcium and lipids in the central nervous system and its depletion causes presenile dementia in female …
J Zhao, C He, X Fan, L Wang, L Zhao, H Liu, W Shen… - Theranostics, 2024 - ncbi.nlm.nih.gov
Abstract Rationale: Tripeptidyl peptidase II (TPP2) has been proven to be related to human
immune and neurological diseases. It is generally considered as a cytosolic protein which …
immune and neurological diseases. It is generally considered as a cytosolic protein which …
Label free quantitative proteomic profiling of serum samples of intellectually disabled young patients revealed dysregulation of complement coagulation and …
Intellectual disability is a heterogeneous disorder, diagnosed using intelligence quotient (IQ)
score criteria. Currently, no specific clinical test is available to diagnose the disease and its …
score criteria. Currently, no specific clinical test is available to diagnose the disease and its …
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer
E Rojano, J Córdoba-Caballero, FM Jabato… - Journal of Personalized …, 2021 - mdpi.com
Exhaustive and comprehensive analysis of pathological traits is essential to understanding
genetic diseases, performing precise diagnosis and prescribing personalized treatments. It …
genetic diseases, performing precise diagnosis and prescribing personalized treatments. It …
Alphavirus nsP2 protease structure and cleavage prediction: Possible relevance to the pathogenesis of viral arthritis
L Prescott - bioRxiv, 2022 - biorxiv.org
Alphaviruses are a diverse genus of arboviruses capable of infecting many vertebrates
including humans. Human infection is common in equatorial and subtropical regions and is …
including humans. Human infection is common in equatorial and subtropical regions and is …