Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice
Sign Up to like & getrecommendations! Published in 2020 at "Neurourology and Urodynamics"
DOI: 10.1002/nau.24450
Abstract: Urofacial syndrome (UFS) is an autosomal recessive disease characterized by detrusor contraction against an incompletely dilated outflow tract. This dyssynergia causes dribbling incontinence and incomplete voiding. Around half of individuals with UFS have biallelic mutations… read more here.
Keywords: mutant mice; bladder; urofacial syndrome; hpse2 mutant ... See more keywords
Hypoxia‐induced pulmonary hypertension upregulates eNOS and TGF‐β contributing to sex‐linked differences in BMPR2 +/R899X mutant mice
Sign Up to like & getrecommendations! Published in 2022 at "Pulmonary Circulation"
DOI: 10.1002/pul2.12163
Abstract: Abstract Dysfunctional bone morphogenetic protein receptor 2 (BMPR2) and endothelial nitric oxide synthase (eNOS) have been largely implicated in the pathogenesis of pulmonary arterial hypertension (PAH); a life‐threatening cardiopulmonary disease. Although the incident of PAH… read more here.
Keywords: hypertension; hypoxia; mutant mice; sex ... See more keywords
Loss of the nutrient sensor TAS1R3 leads to reduced bone resorption
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Physiology and Biochemistry"
DOI: 10.1007/s13105-017-0596-7
Abstract: The taste receptor type 1 (TAS1R) family of heterotrimeric G protein-coupled receptors participates in monitoring energy and nutrient status. TAS1R member 3 (TAS1R3) is a bi-functional protein that recognizes amino acids such as L-glycine and… read more here.
Keywords: mutant mice; bone resorption; tas1r3; tas1r3 mutant ... See more keywords
Impaired Spermatogenesis, Muscle, and Erythrocyte Function in U12 Intron Splicing-Defective Zrsr1 Mutant Mice.
Sign Up to like & getrecommendations! Published in 2018 at "Cell reports"
DOI: 10.1016/j.celrep.2018.03.028
Abstract: The U2AF35-like ZRSR1 has been implicated in the recognition of 3' splice site during spliceosome assembly, but ZRSR1 knockout mice do not show abnormal phenotypes. To analyze ZRSR1 function and its precise role in RNA splicing, we… read more here.
Keywords: zrsr1 mutant; intron; mutant mice; mice ... See more keywords
Expression profiles and functional annotation analysis of mRNAs in suprachiasmatic nucleus of Clock mutant mice.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2017.12.056
Abstract: The core circadian clock gene, Clock, is a positive component of the transcription/translation feedback loop in the master pacemaker suprachiasmatic nucleus (SCN) in mammals. The robust daytime peak of some clock genes in the wild-type… read more here.
Keywords: mutant mice; clock mutant; clock; suprachiasmatic nucleus ... See more keywords
Transcriptomic profiling of long- and short-lived mutant mice implicates mitochondrial metabolism in ageing and shows signatures of normal ageing in progeroid mice
Sign Up to like & getrecommendations! Published in 2021 at "Mechanisms of Ageing and Development"
DOI: 10.1016/j.mad.2021.111437
Abstract: Highlights • Transcriptomic changes are more similar within mutant mice that show either lengthened or shortened lifespan.• The major transcriptomic differences between long- and short-lived mice are in genes controlling mitochondrial metabolism.• Gene expression changes… read more here.
Keywords: mutant mice; normal ageing; long short; mitochondrial metabolism ... See more keywords
Corticostriatal circuit defects in Hoxb8 mutant mice
Sign Up to like & getrecommendations! Published in 2018 at "Molecular psychiatry"
DOI: 10.1038/mp.2017.180
Abstract: Hoxb8 mutant mice exhibit compulsive grooming and hair removal dysfunction similar to humans with the obsessive-compulsive disorder (OCD)-spectrum disorder, trichotillomania. As, in the mouse brain, the only detectable cells that label with Hoxb8 cell lineage… read more here.
Keywords: corticostriatal circuit; mutant mice; hoxb8; circuit ... See more keywords
‘Zombie’ patent fights over mutant mice return
Sign Up to like & getrecommendations! Published in 2017 at "Nature"
DOI: 10.1038/nature.2017.21620
Abstract: survey, they found evidence of many of these major volcanic events. Each of those newly identified eruptions goes into Ernst’s database. “We’ve got about 10 or 15 so far that are probably comparable to the… read more here.
Keywords: zombie patent; fights mutant; mutant mice; years ago ... See more keywords
Insulin2Q104del (Kuma) mutant mice develop diabetes with dominant inheritance
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-68987-z
Abstract: Insulin gene mutations have been identified to cause monogenic diabetes, and most of which developed permanent neonatal diabetes at young ages before 6 months of age in humans. To establish an animal model of permanent… read more here.
Keywords: mutant mice; insulin; insulin2q104del kuma; kuma mutant ... See more keywords
Differences in molecular phenotype in mouse and human hypertrophic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-89451-6
Abstract: Hypertrophic cardiomyopathy (HCM) is characterized by phenotypic heterogeneity. We investigated the molecular basis of the cardiac phenotype in two mouse models at established disease stage (mouse-HCM), and human myectomy tissue (human-HCM). We analyzed the transcriptome… read more here.
Keywords: phenotype; mutant mice; hcm; human hcm ... See more keywords
Hippocampus-related cognitive disorders develop in the absence of epilepsy and ataxia in the heterozygous Cacna1a mutant mice tottering
Sign Up to like & getrecommendations! Published in 2022 at "Channels"
DOI: 10.1080/19336950.2022.2072449
Abstract: ABSTRACT CACNA1A-associated epilepsy and ataxia frequently accompany cognitive impairments as devastating co-morbidities. However, it is unclear whether the cognitive deficits are consequences secondary to the neurological symptoms elicited by CACNA1A mutations. To address this issue,… read more here.
Keywords: cacna1a mutant; mutant mice; cacna1a; epilepsy ataxia ... See more keywords