Results 21 to 30 of about 2,355,082 (334)

Genetic Diseases of Junctions [PDF]

open access: yesJournal of Investigative Dermatology, 2007
Tight junctions, gap junctions, adherens junctions, and desmosomes represent intricate structural intercellular channels and bridges that are present in several tissues, including epidermis. Clues to the important function of these units in epithelial cell biology have been gleaned from a variety of studies including naturally occurring and engineered ...
John A. McGrath   +3 more
openaire   +4 more sources

Infectious diseases and autoimmunity [PDF]

open access: yes, 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

Topologically Associating Domains and Regulatory Landscapes in Development, Evolution and Disease

open access: yesFrontiers in Cell and Developmental Biology, 2021
Animal genomes are folded in topologically associating domains (TADs) that have been linked to the regulation of the genes they contain by constraining regulatory interactions between cis-regulatory elements and promoters. Therefore, TADs are proposed as
Juan J. Tena, José M. Santos-Pereira
doaj   +1 more source

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

open access: yes, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Theranostics of Genetic Diseases [PDF]

open access: yesMolecular Diagnosis & Therapy, 2019
Abstract not ...
Gambari R., Kleanthous M.
openaire   +3 more sources

Alzheimer disease genetic risk factor APOE e4, and cognitive abilities in 111,739 UK Biobank participants [PDF]

open access: yes, 2016
Background: the apolipoprotein (APOE) e4 locus is a genetic risk factor for dementia. Carriers of the e4 allele may be more vulnerable to conditions that are independent risk factors for cognitive decline, such as cardiometabolic diseases.
Anderson, Jana   +14 more
core   +1 more source

microRNAs and genetic diseases [PDF]

open access: yesPathoGenetics, 2009
Abstract microRNAs (miRNAs) are a class of small RNAs (19-25 nucleotides in length) processed from double-stranded hairpin precursors. They negatively regulate gene expression in animals, by binding, with imperfect base pairing, to target sites in messenger RNAs (usually in 3' untranslated regions) thereby either reducing translational ...
Meola N, Gennarino VA, BANFI, Sandro
openaire   +4 more sources

Genetic Factors Contributing to the Susceptibility of Development of Prion Diseases [PDF]

open access: yes, 2017
This paper won an honorable mention writing flag award in the research category. Claire Culbertson, writing for Katherine Bruner’s BIO 325L class, “Lab Experience in Genetics”.Bruner, KatherineUndergraduate ...
Culbertson, Claire
core   +1 more source

Autoimmune Disease Genetics [PDF]

open access: yesClinical and Developmental Immunology, 2012
Genetic risk factors play an important role in autoimmune disease susceptibility. Recent advances genotyping techniques, statistical methods, and the organization of large patient cohorts have facilitated explosive progress in this field, and our understanding of the genetic architecture of human autoimmunity is rapidly expanding.
Mohammed Tikly   +3 more
openaire   +3 more sources

Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]

open access: yes, 2019
Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya)   +3 more
core   +3 more sources

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