Novel gene discovery for hearing loss and other routes to increased diagnostic rates.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02374-0
Abstract: Despite decades of research, there is much to be learned about the genetic landscape of sensorineural hearing loss. Novel genes for hearing loss remain to be identified while 'secrets' of the known genes need to… read more here.
Keywords: novel gene; hearing loss; genetics; loss ... See more keywords
Novel gene function and regulation in neocortex expansion.
Sign Up to like & getrecommendations! Published in 2017 at "Current opinion in cell biology"
DOI: 10.1016/j.ceb.2017.11.008
Abstract: The expansion of the neocortex during human evolution is due to changes in our genome that result in increased and prolonged proliferation of neural stem and progenitor cells during neocortex development. Three principal types of… read more here.
Keywords: expansion; human specific; novel gene; function ... See more keywords
Functional characterization of a novel gene, Hc-dhs-28 and its role in protecting the host after Haemonchus contortus infection through regulation of diapause formation.
Sign Up to like & getrecommendations! Published in 2020 at "International journal for parasitology"
DOI: 10.1016/j.ijpara.2020.04.013
Abstract: Haemonchus contortus could enter the diapause stage to avoid hostile conditions, however the inducing mechanism still remains poorly understood. A similar dauer strategy exists in Caenorhabditis elegans, and dauer phenomones, which are produced through a… read more here.
Keywords: gene dhs; formation; novel gene; haemonchus contortus ... See more keywords
Pan-Genomic Illumination of Tomato Identifies Novel Gene-Trait Interactions.
Sign Up to like & getrecommendations! Published in 2019 at "Trends in plant science"
DOI: 10.1016/j.tplants.2019.08.001
Abstract: A recent study by Gao et al., (Nat. Genet., 2019) presents a tomato pan-genome that was constructed using genome sequences of 725 phylogenetically and geographically representative accessions. The study revealed 4873 genes that are absent… read more here.
Keywords: identifies novel; genomic illumination; tomato identifies; novel gene ... See more keywords
Cross-validation of existing signatures and derivation of a novel 29-gene transcriptomic signature predictive of progression to TB in a Brazilian cohort of household contacts of pulmonary TB.
Sign Up to like & getrecommendations! Published in 2020 at "Tuberculosis"
DOI: 10.1016/j.tube.2020.101898
Abstract: The goal of this study was to identify individuals at risk of progression and reactivation among household contacts (HHC) of pulmonary TB cases in Vitoria, Brazil. We first evaluated the predictive performance of six published… read more here.
Keywords: household contacts; cohort; progression; novel gene ... See more keywords
Trio‐binned genomes of the woodrats Neotoma bryanti and Neotoma lepida reveal novel gene islands and rapid copy number evolution of xenobiotic metabolizing genes
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Ecology Resources"
DOI: 10.1111/1755-0998.13650
Abstract: The genomic architecture underlying the origins and maintenance of biodiversity is an increasingly accessible feature of species, due in large part to third‐generation sequencing and novel analytical toolsets. Applying these techniques to woodrats (Neotoma spp.)… read more here.
Keywords: woodrats neotoma; novel gene; neotoma bryanti; trio ... See more keywords
Novel gene signatures for prognosis prediction in ovarian cancer
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.15601
Abstract: Ovarian cancer (OV) is one of the leading causes of cancer deaths in women worldwide. Late diagnosis and heterogeneous treatment result to poor survival outcomes for patients with OV. Therefore, we aimed to develop novel… read more here.
Keywords: prognosis prediction; novel gene; ovarian cancer; signature ... See more keywords
Mutations in the novel gene FOPV are associated with familial autosomal dominant and non‐familial obliterative portal venopathy
Sign Up to like & getrecommendations! Published in 2018 at "Liver International"
DOI: 10.1111/liv.13547
Abstract: Obliterative portal venopathy (OPV) is characterized by lesions of portal vein intrahepatic branches and is thought to be responsible for many cases of portal hypertension in the absence of cirrhosis or obstruction of large portal… read more here.
Keywords: obliterative portal; portal venopathy; mutations novel; novel gene ... See more keywords
P28 Identification of a shear stress responsive novel gene in the intron of laf4
Sign Up to like & getrecommendations! Published in 2018 at "Heart"
DOI: 10.1136/heartjnl-2018-bscr.33
Abstract: A novel gene was recently discovered using microarray gene profiling of shear stress–induced genes in mouse embryonic stem cells (ESCs), which is located within the intron of the transcription factor Laf4 and therefore designated as… read more here.
Keywords: intron; shear stress; novel gene; gene ... See more keywords
Gene fusions in tumourigenesis with particular reference to ovarian cancer
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108010
Abstract: Gene fusion, a genomic event that generates a novel gene from two independent genes, has long been known to be implicated in tumourigenesis and cancer progression. It has thus served as a diagnostic and prognostic… read more here.
Keywords: gene fusions; fusions tumourigenesis; novel gene; cancer ... See more keywords
Abstract PS6-11: TargetableERBB2mutation status is an independent marker of adverse prognosis in estrogen receptor positive,ERBB2non-amplified primary lobular breast carcinoma: Validation using a novel gene signature of HER2 activation
Sign Up to like & getrecommendations! Published in 2021 at "Cancer Research"
DOI: 10.1158/1538-7445.sabcs20-ps6-11
Abstract: Invasive lobular carcinoma (ILC) accounts for 10-15% of primary breast cancer and is typically ER+ and ERBB2 non-amplified. There is preclinical evidence that somatic ERBB2 mutation may provide an alternative and tractable mechanism for upregulation… read more here.
Keywords: novel gene; signature her2; carcinoma; signature ... See more keywords