Gene Dosage Sensitivity and Human Genetic Diseases
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia +2 more
wiley +1 more source
Animals, 2022 It is well known that the small intestinal epithelial cells of mammals rapidly undergo differentiation, maturation, and apoptosis. However, few studies have defined the physiological state and gene expression changes of enterocytes along the crypt-villus
Lijun Zou +6 more
doaj +1 more source
Pro-inflammatory miR-223 mediates the cross-talk between the IL23 pathway and the intestinal barrier in inflammatory bowel disease [PDF]
, 2016 Genes that showed greater than four-fold upregulation in IBD.
Alfa Hc Bai +10 more
core +6 more sources
Detection and Isolation of Tissue‐Specific Extracellular Vesicles From the Blood
Journal of Extracellular Biology, Volume 4, Issue 6, June 2025.ABSTRACT Extracellular vesicles (EVs) are nanosized, membrane‐bound particles released by virtually all cell types, serving as messengers within tissues and across organs via the bloodstream. EVs encapsulate diverse molecular cargo that reflects the phenotypic state of their originating cells, making them promising candidates for liquid biopsy ...
Lauren Newman, Andrew Rowland
wiley +1 more source
Frontiers in Oncology, 2022 BackgroundNeutrophil extracellular traps (NETs) are web-like structures formed by neutrophils, and their main function is antimicrobial defense. Moreover, NETs have numerous roles in the pathogenesis and progression of cancers.
Zhi-Hai Teng +5 more
doaj +1 more source
A Network of SLC and ABC Transporter and DME Genes Involved in Remote Sensing and Signaling in the Gut-Liver-Kidney Axis. [PDF]
, 2019 Genes central to drug absorption, distribution, metabolism and elimination (ADME) also regulate numerous endogenous molecules. The Remote Sensing and Signaling Hypothesis argues that an ADME gene-centered network-including SLC and ABC "drug" transporters,
Bush, Kevin T +2 more
core +1 more source
Evolution of placental function in mammals:the molecular basis of gas and nutrient transfer, hormone secretion, and immune responses [PDF]
, 2012 Placenta has a wide range of functions. Some are supported by novel genes that have evolved following gene duplication events while others require acquisition of gene expression by the trophoblast.
Carter, Anthony Michael
core +1 more source
Core promoter short tandem repeats as evolutionary switch codes for primate speciation [PDF]
, 2015 Alteration in gene expression levels underlies many of the phenotypic differences across species. Because of their highly mutable nature, proximity to the +1 transcription start site (TSS), and the emerging evidence of functional impact on gene ...
Bagheri, A. +8 more
core
Identification of expression QTL (eQTL) of genes expressed in porcine M. longissimus dorsi and associated with meat quality traits [PDF]
, 2010 Background Genetic analysis of transcriptional profiles is a promising approach for identifying and dissecting the genetics of complex traits like meat performance.
Siriluck Ponsuksili +4 more
core +1 more source
A Review on the Role of Human Solute Carriers Transporters in Cancer
Health Science Reports, Volume 8, Issue 1, January 2025.ABSTRACT Background and Aim The high rate of tumor growth results in an increased need for amino acids. As solute carriers (SLC) transporters are capable of transporting different amino acids, cancer may develop as a result of these transporters' over‐expression due to their complex formation with other biological molecules.
Md. Shafiul Hossen +4 more
wiley +1 more source