Results 51 to 60 of about 11,828,008 (230)
Genetic heterogeneity analysis using genetic algorithm and network science [PDF]
arXiv, 2023 Through genome-wide association studies (GWAS), disease susceptible genetic variables can be identified by comparing the genetic data of individuals with and without a specific disease. However, the discovery of these associations poses a significant challenge due to genetic heterogeneity and feature interactions.
arxiv
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
Journal of Medical Genetics, 2019 Up to 350 million people worldwide suffer from a rare disease, and while the individual diseases are rare, in aggregate they represent a substantial challenge to global health systems.
D. Bick +4 more
semanticscholar +1 more source
Modeling viral infectious diseases and development of antiviral therapies using human induced pluripotent stem cell-derived systems [PDF]
, 2015 The recent biotechnology breakthrough of cell reprogramming and generation of induced pluripotent stem cells (iPSCs), which has revolutionized the approaches to study the mechanisms of human diseases and to test new drugs, can be exploited to generate ...
Barzon, Luisa +6 more
core +2 more sources
MicroRNAs and Long Non-coding RNAs in Genetic Diseases
Molecular Diagnosis & Therapy, 2019 Since the discovery and classification of non-coding RNAs, their roles have gained great attention. In this respect, microRNAs and long non-coding RNAs have been firmly demonstrated to be linked to regulation of gene expression and onset of human ...
A. Finotti +5 more
semanticscholar +1 more source
1st INCF Workshop on Genetic Animal Models for Brain Diseases [PDF]
, 2011 The INCF Secretariat organized a workshop to focus on the “role of neuroinformatics in the processes of building, evaluating, and using genetic animal models for brain diseases” in Stockholm, December 13–14, 2009.
Holm Graessner, Olaf Riess
core +2 more sources
BMC Medical Genetics, 2020 Background Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders.
Adrian Giucă +8 more
doaj +1 more source
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases [PDF]
, 2008 We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and ...
Gil-Mi Ryu +4 more
core +1 more source
Infectious diseases and autoimmunity [PDF]
, 2011 Introduction: Autoimmunity occurs when the immune system recognizes and attacks host tissue. In addition to genetic factors, environmental triggers (in particular viruses, bacteria and other infectious pathogens) are thought to play a major role in the ...
Deidda, Silvia +3 more
core +1 more source
Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells
Cells, 2020 Mitochondria are involved in many cellular processes and their main role is cellular energy production. They constantly undergo fission and fusion, and these counteracting processes are under strict balance. The cytosolic dynamin-related protein 1, Drp1,
Liza Douiev +3 more
doaj +1 more source
Genomics of rare genetic diseases—experiences from India
Human Genomics, 2019 Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, including the widely prevalent practice of ...
Anjali Bajaj +282 more
semanticscholar +1 more source