The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Neurology"
DOI: 10.1002/ana.26009
Abstract: The role of the survival of motor neuron (SMN) gene in amyotrophic lateral sclerosis (ALS) is unclear, with several conflicting reports. A decisive result on this topic is needed, given that treatment options are available… read more here.
Keywords: smn gene; gene dosage; als risk; effect smn ... See more keywords
Cell Surface Calcium‐Sensing Receptor Heterodimers: Mutant Gene Dosage Affects Ca2+ Sensing but Not G Protein Interaction
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4651
Abstract: The calcium‐sensing receptor is a homodimeric class C G protein‐coupled receptor (GPCR) that senses extracellular Ca2+ (Ca2+o) via a dimeric extracellular Venus flytrap (VFT) unit that activates G protein‐dependent signaling via twin Cysteine‐rich domains linked… read more here.
Keywords: gene dosage; receptor; calcium sensing;
Position effects at the FGF8 locus are associated with femoral hypoplasia.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2021.08.001
Abstract: Copy-number variations (CNVs) are a common cause of congenital limb malformations and are interpreted primarily on the basis of their effect on gene dosage. However, recent studies show that CNVs also influence the 3D genome… read more here.
Keywords: associated femoral; femoral hypoplasia; position; gene dosage ... See more keywords
Interaction of sexual dimorphism and gene dosage imbalance in skeletal deficits associated with Down syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Bone"
DOI: 10.1016/j.bone.2020.115367
Abstract: All individuals with Down syndrome (DS), which results from trisomy of human chromosome 21 (Ts21), present with skeletal abnormalities typified by craniofacial features, short stature and low bone mineral density (BMD). Differences in skeletal deficits… read more here.
Keywords: gene dosage; bone; mice; dosage ... See more keywords
Aging: Somatic Mutations, Epigenetic Drift and Gene Dosage Imbalance.
Sign Up to like & getrecommendations! Published in 2017 at "Trends in cell biology"
DOI: 10.1016/j.tcb.2016.11.006
Abstract: Aging involves a progressive decline of metabolic function and an increased incidence of late-onset degenerative disorders and cancer. To a large extent, these processes are influenced by alterations affecting the integrity of genome architecture and,… read more here.
Keywords: mutations epigenetic; gene dosage; somatic mutations; aging somatic ... See more keywords
Erratum: Gene dosage reductions of Trf1 and/or Tin2 induce telomere DNA damage and lymphoma formation in aging mice
Sign Up to like & getrecommendations! Published in 2017 at "Leukemia"
DOI: 10.1038/leu.2017.224
Abstract: Gene dosage reductions of Trf1 and/or Tin2 induce telomere DNA damage and lymphoma formation in aging mice read more here.
Keywords: tin2 induce; gene dosage; reductions trf1; dosage reductions ... See more keywords
Dissection of a down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome.
Sign Up to like & getrecommendations! Published in 2023 at "Human molecular genetics"
DOI: 10.1093/hmg/ddad056
Abstract: As an aneuploidy, trisomy is associated with mammalian embryonic and postnatal abnormalities. Understanding the underlying mechanisms involved in mutant phenotypes is broadly important and may lead to new strategies to treat clinical manifestations in individuals… read more here.
Keywords: gene dosage; extra chromosome; gene; trisomy ... See more keywords
Gene‐dosage effect of Pfkfb3 on monocyte/macrophage biology in atherosclerosis
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Pharmacology"
DOI: 10.1111/bph.15926
Abstract: Macrophage‐rich atherosclerotic arteries are highly active in glycolysis. PFKFB3, a key glycolytic enzyme, has emerged as a potential therapeutic target in atherosclerosis. Small‐molecule inhibitors of PFKFB3, such as 3PO and PFK158, have demonstrated efficacy in… read more here.
Keywords: dosage effect; atherosclerosis; gene dosage; macrophage ... See more keywords
A gene dosage‐dependent effect unveils NBS1 as both a haploinsufficient tumour suppressor and an essential gene for SHH‐medulloblastoma
Sign Up to like & getrecommendations! Published in 2022 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12837
Abstract: Inherited or somatic mutations in the MRE11, RAD50 and NBN genes increase the incidence of tumours, including medulloblastoma (MB). On the other hand, MRE11, RAD50 and NBS1 protein components of the MRN complex are often… read more here.
Keywords: dosage dependent; unveils nbs1; dependent effect; effect unveils ... See more keywords
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
Sign Up to like & getrecommendations! Published in 2023 at "JCI insight"
DOI: 10.1172/jci.insight.168836
Abstract: DNAAF5 is a dynein motor assembly factor associated with the autosomal heterogenic recessive condition of motile cilia, primary ciliary dyskinesia (PCD). The effects of allele heterozygosity on motile cilia function are unknown. We used CRISPR-Cas9… read more here.
Keywords: gene dosage; dnaaf5; primary ciliary; ciliary dyskinesia ... See more keywords
Paralogous Genes Involved in Embryonic Development: Lessons from the Eye and other Tissues
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13112082
Abstract: During evolution, gene duplications lead to a naturally increased gene dosage. Duplicated genes can be further retained or eliminated over time by purifying selection pressure. The retention probability is increased by functional diversification and by… read more here.
Keywords: gene dosage; embryonic development; development; paralogous genes ... See more keywords