Listing 1 - 2 of 2 |
Sort by
|
Choose an application
Alzheimer’s disease (AD) is an age-related neurological disease that affects tens of millions of people, in addition to their carers. Hallmark features of AD include plaques composed of amyloid beta, as well as neurofibrillary tangles of tau protein. However, despite more than a century of study, the cause of Alzheimer’s disease remains unresolved. The roles of amyloid beta and tau are being questioned and other causes of AD are now under consideration. The contributions of researchers, model organisms, and various hypotheses will be examined in this Special Issue.
HOTAIR --- neurosciences --- sleep disturbance --- positron emission tomography (PET) --- vitamin B complex --- neurodegeneration --- Tau --- miR-15/107 --- default-mode network --- complement receptor 1 --- neuronal differentiation --- epigenetics --- brain glucose metabolism --- oligomerization --- genetic risk --- A?O receptors --- prion --- ryanodine receptor --- type 3 diabetes --- complement --- cognitive behavioral therapy for insomnia --- cognitive function --- epigenome-wide association study --- Alzheimer’s disease --- calcium signaling --- ?-secretase --- tau --- Prolyl isomerases --- NEAT1 --- complement C3b/C4b receptor --- proteostasis --- amyloid beta --- yeast --- slow-wave sleep --- amyloid ? --- nutrition --- 4 --- protein aggregation --- apolipoprotein E --- dementia --- MALAT1 --- inositol 1 --- lncRNAs --- molecular biology --- methylenetetrahydrofolate reductase MTHFR gene --- 5-trisphosphate receptor --- CR1 density --- miR-34c --- aggregation --- heat shock protein --- dendritic spine --- S-adenosylmethionine --- beta amyloid --- ion channel --- inflammation --- sleep fragmentation --- cystathionine-?-lyase CTH gene --- DNA methylation --- heat shock response --- microglia --- drug target discovery --- amyloid-? oligomer --- therapy --- CR1 length polymorphism --- methylome --- APOE gene --- ubiquitin --- magnetic resonance imaging (MRI) --- neuronal degeneration --- type 2 diabetes --- Pin1 --- mild cognitive impairment --- dairy products --- endoplasmic reticulum --- oxidative stress --- Hispanics --- CDK5R1
Choose an application
In this Special Issue of Genes entitled “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”, evidence is presented that suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct, etiopathogenic mechanisms, including connective tissue and neuromuscular mechanisms. Congenital scoliosis (CS) is defined by the presence of an abnormal spinal curvature, due to an underlying vertebral bony malformation (VM). Idiopathic scoliosis (IS) is defined by the presence of an abnormal structural spinal curvature of ≥10 degrees in the sagittal plane, in the absence of an underlying VM. Arthrogryposis is defined by the presence of congenital contractures in two or more joints of the appendicular skeleton. All three conditions have complex genetic causes. This Special Issue highlights the complex nature of these conditions and current concepts in our approach to better understand their genetics.
Research & information: general --- Biology, life sciences --- Genetics (non-medical) --- spinal curvatures --- scoliosis --- idiopathic --- DNA methylation --- pyrosequencing --- estrogen receptor 1 --- ESR1 --- scoliosis progression --- adolescent idiopathic scoliosis --- idiopathic scoliosis --- exome sequencing --- spine --- polygenic --- variants --- musculoskeletal disease --- cytoskeleton --- extracellular matrix --- contracture --- arthrogryposis --- congenital --- POC5 --- cilia --- genetics --- spine deformity --- genetic predisposition --- complex trait --- model animal --- genome wide association study --- genetic linkage study --- Amyoplasia --- DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) --- CNV (copy number variant) --- DA (distal arthrogryposis) --- IPA (ingenuity pathway analysis) --- HPO (human phenotype ontology) --- akinesia --- MYOD --- IGF2 --- FGFR1 (Fibroblast growth factor receptor 1) --- genetic variations --- congenital scoliosis --- monozygotic twin --- epigenome-wide association study --- bone --- discordant --- curve severity --- differentially methylated region --- congenital vertebral malformation --- copy number variant --- CNV --- CHRNG --- distal arthrogryposis type 8 --- Escobar --- multiple pterygium syndrome --- MYH3 --- protein tyrosine kinase 7 (PTK7) --- whole exome sequencing --- n/a
Listing 1 - 2 of 2 |
Sort by
|