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Advanced Search Results For "PHENOTYPES"

1 - 10 of 410,203 results for
 "PHENOTYPES"
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Link Between Senescence and Cell Fate: Senescence-Associated Secretory Phenotype and Its Effects on Stem Cell Fate Transition.

Publication Type:Academic Journal

Source(s):Rejuvenation research [Rejuvenation Res] 2022 Aug; Vol. 25 (4), pp. 160-172. Date of Electronic Publication: 2022 Jul 28.

Abstract:Senescence is a form of durable cell cycle arrest elicited in response to a wide range of stimuli. Senescent cells remain metabolically active and secrete a variety of factors collectively termed senescence-associated secretory phenotype (SASP). SASP i...

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A spectrum of recessiveness among Mendelian disease variants in UK Biobank.

Publication Type:Academic Journal

Source(s):American journal of human genetics [Am J Hum Genet] 2022 Jul 07; Vol. 109 (7), pp. 1298-1307. Date of Electronic Publication: 2022 May 31.

Abstract:Recent work has found increasing evidence of mitigated, incompletely penetrant phenotypes in heterozygous carriers of recessive Mendelian disease variants. We leveraged whole-exome imputation within the full UK Biobank cohort (n ∼ 500K) to extend such ...

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The senescence-associated secretory phenotype in ovarian cancer dissemination.

Publication Type:Academic Journal

Source(s):American journal of physiology. Cell physiology [Am J Physiol Cell Physiol] 2022 Jul 01; Vol. 323 (1), pp. C125-C132. Date of Electronic Publication: 2022 May 18.

Abstract:Ovarian cancer is a highly aggressive disease with poor survival rates in part due to diagnosis after dissemination throughout the peritoneal cavity. It is well-known that inflammatory signals affect ovarian cancer dissemination. Inflammation is a hall...

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Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.

Publication Type:Academic Journal

Source(s):Hormones (Athens, Greece) [Hormones (Athens)] 2021 Jun; Vol. 20 (2), pp. 293-298. Date of Electronic Publication: 2020 Oct 29.

Abstract:Introduction: P450 oxidoreductase (POR) deficiency is a rare form of congenital adrenal hyperplasia. In both genders, it can lead to ambiguous genitalia, impaired steroidogenesis, and skeletal findings similar to those of Antley-Bixler syndrome.Cases: ...

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Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.

Publication Type:Academic Journal

Source(s):Briefings in bioinformatics [Brief Bioinform] 2022 Sep 20; Vol. 23 (5).

Abstract:Yuan et al. recently described an independent evaluation of several phenotype-driven gene prioritization methods for Mendelian disease on two separate, clinical datasets. Although they attempted to use default settings for each tool, we describe three ...

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A quantile integral linear model to quantify genetic effects on phenotypic variability.

Publication Type:Academic Journal

Source(s):Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Sep 27; Vol. 119 (39), pp. e2212959119. Date of Electronic Publication: 2022 Sep 19.

Abstract:Detecting genetic variants associated with the variance of complex traits, that is, variance quantitative trait loci (vQTLs), can provide crucial insights into the interplay between genes and environments and how they jointly shape human phenotypes in ...

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Polychotomous traits and evolution under conformity.

Publication Type:Academic Journal

Source(s):Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Sep 27; Vol. 119 (39), pp. e2205914119. Date of Electronic Publication: 2022 Sep 19.

Abstract:Conformist and anticonformist transmission of dichotomous cultural traits (i.e., traits with two variants) have been studied both experimentally, in many species, and theoretically, with mathematical models. Signatures of types of conformity to polycho...

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Developmental noise is an overlooked contributor to innate variation in psychological traits.

Publication Type:Academic Journal

Source(s):The Behavioral and brain sciences [Behav Brain Sci] 2022 Sep 13; Vol. 45, pp. e171. Date of Electronic Publication: 2022 Sep 13.

Abstract:Stochastic developmental variation is an additional important source of variance - beyond genes and environment - that should be included in considering how our innate psychological predispositions may interact with environment and experience, in a cul...

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Brain-phenotype models fail for individuals who defy sample stereotypes.

Publication Type:Academic Journal

Source(s):Nature [Nature] 2022 Sep; Vol. 609 (7925), pp. 109-118. Date of Electronic Publication: 2022 Aug 24.

Abstract:Individual differences in brain functional organization track a range of traits, symptoms and behaviours 1-12 . So far, work modelling linear brain-phenotype relationships has assumed that a single such relationship generalizes across all individuals, ...

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Human genotype-to-phenotype predictions: Boosting accuracy with nonlinear models.

Publication Type:Academic Journal

Source(s):PloS one [PLoS One] 2022 Aug 31; Vol. 17 (8), pp. e0273293. Date of Electronic Publication: 2022 Aug 31 (Print Publication: 2022).

Abstract:Genotype-to-phenotype prediction is a central problem of human genetics. In recent years, it has become possible to construct complex predictive models for phenotypes, thanks to the availability of large genome data sets as well as efficient and scalab...

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