Results 71 to 80 of about 2,406,008 (205)

Recent advances in vasoactive intestinal peptide physiology and pathophysiology: focus on the gastrointestinal system. [PDF]

open access: yes, 2019
Vasoactive intestinal peptide (VIP), a gut peptide hormone originally reported as a vasodilator in 1970, has multiple physiological and pathological effects on development, growth, and the control of neuronal, epithelial, and endocrine cell functions ...
Akiba, Yasutada   +2 more
core  

Genetic diseases [PDF]

open access: yesClinical Chemistry and Laboratory Medicine (CCLM), 2021
openaire   +2 more sources

Simulations of a mortality plateau in the sexual Penna model for biological ageing [PDF]

open access: yes, 2005
The Penna model is a strategy to simulate the genetic dynamics of age-structured populations, in which the individuals genomes are represented by bit-strings.
A. O. Sousa   +7 more
core   +1 more source

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene [PDF]

open access: yes, 2019
Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Amaral, Olga   +5 more
core   +2 more sources

Cataract and genetic diseases

open access: yesQuality in Sport
Despite the decreasing number of cases, cataract is still the leading cause of visual impairment and blindness worldwide. The search for the causes of this disease, its risk factors and the relationship with systemic diseases is the subject of many ...
Mateusz Kozik   +9 more
doaj   +1 more source

Patterns of spatial genetic structures in Aedes albopictus (Diptera: Culicidae) populations in China. [PDF]

open access: yes, 2019
BACKGROUND:The Asian tiger mosquito, Aedes albopictus, is one of the 100 worst invasive species in the world and the vector for several arboviruses including dengue, Zika and chikungunya viruses.
Fan, Peiyang   +9 more
core  

Gaucher disease – a comprehensive review of clinical characteristics, diagnostic algorythms and current therapies

open access: yesQuality in Sport
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which encodes the enzyme glucocerebrosidase.
Alicja Kotula   +8 more
doaj   +1 more source

Childhood Obesity and Familial Hypercholesterolemia: Genetic Diseases that Contribute to Cardiovascular Disease [PDF]

open access: yes, 2014
Childhood obesity occurs as the result of an imbalance between caloric intake and energy expenditure. Genetic risk factors for obesity have become an area of research due to its permanency.
Caudle, Alyssa
core   +1 more source

Exploring the psychological problems of mothers having the experience of death of children with untreatable genetic disorders: A qualitative study

open access: yesJournal of Education and Health Promotion
BACKGROUND: A newborn with an untreatable genetic disorder could disrupt a family and affect parents’ mental health, psycho-social interaction, and parent–child relationships.
Marzyeh Kermanian   +3 more
doaj   +1 more source

GenEpi: gene-based epistasis discovery using machine learning. [PDF]

open access: yes, 2020
BackgroundGenome-wide association studies (GWAS) provide a powerful means to identify associations between genetic variants and phenotypes. However, GWAS techniques for detecting epistasis, the interactions between genetic variants associated with ...
Alzheimer’s Disease Neuroimaging Initiative   +9 more
core  

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