150,083 results match your criteria phenotypic methods

Prediction of eye, hair and skin colour in Latin Americans.

Forensic Sci Int Genet 2021 Apr 6;53:102517. Epub 2021 Apr 6.

UMR 7268 ADES, CNRS, Aix-Marseille Université, EFS, Faculté de Médecine Timone, Marseille 13005, France; Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London WC1E 6BT, UK; Ministry of Education Key Laboratory of Contemporary Anthropology and Collaborative Innovation Center of Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Yangpu District, Shanghai, China. Electronic address:

Here we evaluate the accuracy of prediction for eye, hair and skin pigmentation in a dataset of > 6500 individuals from Mexico, Colombia, Peru, Chile and Brazil (including genome-wide SNP data and quantitative/categorical pigmentation phenotypes - the CANDELA dataset CAN). We evaluated accuracy in relation to different analytical methods and various phenotypic predictors. As expected from statistical principles, we observe that quantitative traits are more sensitive to changes in the prediction models than categorical traits. Read More

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Multi-scale modeling for systematically understanding the key roles of microglia in AD development.

Comput Biol Med 2021 Apr 5;133:104374. Epub 2021 Apr 5.

School of Biomedical Informatics, The University of Texas Health Science Center at Houston, 7000 Fannin Street, Houston, TX, 77030, USA. Electronic address:

Alzheimer's disease (AD) is the leading cause of age-related dementia, affecting over 5 million people in the United States. Unfortunately, current therapies are largely palliative and several potential drug candidates have failed in late-stage clinical trials. Studies suggest that microglia-mediated neuroinflammation might be responsible for the failures of various therapies. Read More

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High levels of Tim-3Foxp3Treg cells in the tumor microenvironment is a prognostic indicator of poor survival of diffuse large B cell lymphoma patients.

Int Immunopharmacol 2021 Apr 14;96:107662. Epub 2021 Apr 14.

Department of Geriatrics, Gastroenterology Ward, Guangzhou First People's Hospital, School of Medicine, South China University of Technology, Guangzhou, Guangdong 510180, China. Electronic address:

Foxp3Treg cells display phenotypic and functional heterogeneity, which express high levels of T cell immunoglobulin and mucin-domain containing-3 (Tim-3) in the tumor microenvironment (TME) of colorectal and lung cancer. High abundance of Tim-3Foxp3Treg (TFT) cells are associated with poor prognosis in these patients. However, the expression patterns and roles of TFT cells in TME of diffuse large B cell lymphoma (DLBCL) remain to be established. Read More

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Epidemiological surveys of ASD: advances and remaining challenges.

J Autism Dev Disord 2021 Apr 17. Epub 2021 Apr 17.

Department of Psychiatry, Oregon Health & Science University, Mail code: GH254 3181 SW Sam Jackson Park Rd, Portland, OR, 97239, USA.

Recent worldwide epidemiological surveys of autism conducted in 37 countries are reviewed; the median prevalence of autism is .97% in 26 high-income countries. Methodological advances and remaining challenges in designing and executing surveys are discussed, including the effects on prevalence of variable case definitions and nosography, of reliance on parental reports only, case ascertainment through mainstream school surveys, innovative approaches to screen school samples more efficiently, and consideration of age in interpreting surveys. Read More

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Halobellus ruber sp. nov., a deep red-pigmented extremely halophilic archaeon isolated from a Korean solar saltern.

Antonie Van Leeuwenhoek 2021 Apr 17. Epub 2021 Apr 17.

Department of Bioengineering and Nano-Bioengineering, Graduate School of Incheon National University, Incheon, 22012, Republic of Korea.

A novel halophilic archaeon, strain MBLA0160, was isolated from a solar saltern in Sorae, Republic of Korea. The cells are deep-red pigmented, Gram-negative, rod shaped, motile, and lysed in distilled water. The strain MBLA0160 grew at 25-45 °C (optimum 37 °C), in 15-30% (w/v) NaCl (optimum 20%) and 0. Read More

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Vibrio nitrifigilis sp. nov., a marine nitrogen-fixing bacterium isolated from the lagoon sediment of an islet inside an atoll.

Antonie Van Leeuwenhoek 2021 Apr 17. Epub 2021 Apr 17.

Institute of Oceanography, National Taiwan University, P.O. Box 23-13, Taipei, 10617, Taiwan.

A nitrogen-fixing isolate of facultatively anaerobic, marine bacterium, designated strain NFV-1, was recovered from the lagoon sediment of Dongsha Island, Taiwan. It was a Gram-negative rod which exhibited motility with monotrichous flagellation in broth cultures. The strain required NaCl for growth and grew optimally at about 25-35 °C, 3% NaCl and pH 7-8. Read More

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Massilia aromaticivorans sp. nov., a  BTEX Degrading Bacterium Isolated from Arctic Soil.

Curr Microbiol 2021 Apr 17. Epub 2021 Apr 17.

Department of Agricultural Biotechnology and Research Institute of Agriculture and Life Sciences, Seoul National University, Seoul, 08826, Republic of Korea.

A novel BTEX degrading bacterial strain, designated ML15P13, was isolated from Arctic soil at the Svalbard Islands, Norway, using an enrichment culture technique. This isolate is Gram-negative, aerobic, motile with multiple flagella at one polar end, and rod-shaped. Growth was observed at 4-35 °C, pH 6. Read More

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Directed differentiation of human induced pluripotent stem cells to hepatic stellate cells.

Nat Protoc 2021 Apr 16. Epub 2021 Apr 16.

Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

Hepatic stellate cells (HSCs) are nonparenchymal liver cells responsible for extracellular matrix homeostasis and are the main cells involved in the development of liver fibrosis following injury. The lack of reliable sources of HSCs has hence limited the development of complex in vitro systems to model liver diseases and toxicity. Here we describe a protocol to differentiate human induced pluripotent stem cells (iPSCs) into hepatic stellate cells (iPSC-HSCs). Read More

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Selective AKT kinase inhibitor capivasertib in combination with fulvestrant in PTEN-mutant ER-positive metastatic breast cancer.

NPJ Breast Cancer 2021 Apr 16;7(1):44. Epub 2021 Apr 16.

Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Five to ten percent of ER+ metastatic breast cancer (MBC) tumors harbor somatic PTEN mutations. Loss of function of this tumor-suppressor gene defines a highly aggressive, treatment-refractory disease for which new therapies are urgently needed. This Phase I multipart expansion study assessed oral capivasertib with fulvestrant in patients with PTEN-mutant ER+ MBC. Read More

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Phenotypic discordance between primary and metastatic breast cancer in the large-scale real-life multicenter French ESME cohort.

NPJ Breast Cancer 2021 Apr 16;7(1):41. Epub 2021 Apr 16.

Gustave Roussy Cancer Campus, Villejuif, France.

Expression of hormone receptor (HR) for estrogens (ER) and progesterone (PR) and HER2 remains the cornerstone to define the therapeutic strategy for breast cancer patients. We aimed to compare phenotypic profiles between matched primary and metastatic breast cancer (MBC) in the ESME database, a National real-life multicenter cohort of MBC patients. Patients with results available on both primary tumour and metastatic disease within 6 months of MBC diagnosis and before any tumour progression were eligible for the main analysis. Read More

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Global phosphoproteomics reveals DYRK1A regulates CDK1 activity in glioblastoma cells.

Cell Death Discov 2021 Apr 16;7(1):81. Epub 2021 Apr 16.

Charles Perkins Centre and School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, 2006, Australia.

Both tumour suppressive and oncogenic functions have been reported for dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A). Herein, we performed a detailed investigation to delineate the role of DYRK1A in glioblastoma. Our phosphoproteomic and mechanistic studies show that DYRK1A induces degradation of cyclin B by phosphorylating CDC23, which is necessary for the function of the anaphase-promoting complex, a ubiquitin ligase that degrades mitotic proteins. Read More

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Copy number variation underlies complex phenotypes in domestic dog breeds and other canids.

Genome Res 2021 Apr 16. Epub 2021 Apr 16.

IBE, Institut de Biologia Evolutiva (Universitat Pompeu Fabra/CSIC), Ciencies Experimentals i de la Salut, Barcelona 08003, Spain.

Extreme phenotypic diversity, a history of artificial selection, and socioeconomic value make domestic dog breeds a compelling subject for genomic research. Copy number variation (CNV) is known to account for a significant part of inter-individual genomic diversity in other systems. However, a comprehensive genome-wide study of structural variation as it relates to breed-specific phenotypes is lacking. Read More

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Physiological, developmental, and behavioral plasticity in response to thermal acclimation.

J Therm Biol 2021 Apr 4;97:102866. Epub 2021 Feb 4.

Department of Wildlife Ecology and Conservation, University of Florida, Gainesville, FL, 32611, USA. Electronic address:

Organisms with complex ecologies and life-cycle processes may shift physiologically (acclimation in tolerance), developmentally, and/or behaviorally (thermoregulation) in response to changes in climate. As such, climate change may trigger multiple, interacting phenotypic responses, which underscores the nuances of characterizing a species capacity to adapt and respond to climate change. In this study, we use a model frog species, Bufo gargarizans, to examine how three phenotypes, thermal tolerance limits (critical thermal minimum, CT and critical thermal maximum, CT), ontogeny, and behavioral preferences in temperature (T) respond to different levels of thermal exposure (i. Read More

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Identification of X-chromosomal genes that drive sex differences in embryonic stem cells through a hierarchical CRISPR screening approach.

Genome Biol 2021 Apr 16;22(1):110. Epub 2021 Apr 16.

Otto Warburg Laboratories, Max Planck Institute for Molecular Genetics, Berlin, Germany.

Background: X-chromosomal genes contribute to sex differences, in particular during early development, when both X chromosomes are active in females. Double X-dosage shifts female pluripotent cells towards the naive stem cell state by increasing pluripotency factor expression, inhibiting the differentiation-promoting MAP kinase (MAPK) signaling pathway, and delaying differentiation.

Results: To identify the genetic basis of these sex differences, we use a two-step CRISPR screening approach to comprehensively identify X-linked genes that cause the female pluripotency phenotype in murine embryonic stem cells. Read More

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Roles of phenotypic heterogeneity and microenvironment feedback in early tumor development.

Phys Rev E 2021 Mar;103(3-1):032407

Department of Physics, University of Toronto, 60 St George St, Toronto, Ontario M5S 1A7, Canada.

The local microenvironment of a tumor plays an important and commonly observed role in cancer development and progression. Dynamic changes in the tissue microenvironment are thought to epigenetically disrupt healthy cellular phenotypes and drive cancer incidence. Despite the experimental work in this area there are no conceptual models to understand the interplay between the epigenetic dysregulation in the microenvironment of early tumors and the appearance of cancer driver mutations. Read More

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Antivirulence activity and in vivo efficacy of a thiazole derivative against candidiasis.

J Mycol Med 2021 Apr 6;31(2):101134. Epub 2021 Apr 6.

Departamento de Microbiologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Av. Antônio Carlos, 6627, PO Box 486, 31270-901 Belo Horizonte, Minas Gerais, Brazil. Electronic address:

Candida albicans is a pathogen equipped with a variety of commensal and virulence traits that help it colonize the microbiota and invade host tissue during infection. In this study, we investigated the potential anticandidal activity of 3-[2-(4-(4-methoxyphenyl)thiazol-2-yl)hydrazino)]butan-1-ol (MT), a thiazolylhydrazone compound synthesized by our group, and identified it as a promising antifungal agent. The activity of MT was evaluated in vitro and in vivo against C. Read More

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Additional drug resistance for Mycobacterium tuberculosis during turnaround time for drug-susceptibility testing in China, a multicenter observational cohort study.

Int J Infect Dis 2021 Apr 13. Epub 2021 Apr 13.

Department of Global Public Health, Karolinska Institute, Stockholm, Sweden.

Background: Although phenotypic drug susceptibility testing (DST) of Mycobacterium.Tuberculosis (Mtb) takes up to 6-8 weeks, little is known about how drug susceptibility is affected during this period.

Methods: We performed a prospective cohort study to investigate the development of drug resistance (DR) during turnaround time (TAT), including 359 pulmonary tuberculosis (PTB) patients with a baseline DST result of a Mtb isolate collected at TB diagnosis and a follow-up DST result of a Mtb isolate collected when baseline DST result was available between 2013 and 2018. Read More

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Accurate cancer phenotype prediction with AKLIMATE, a stacked kernel learner integrating multimodal genomic data and pathway knowledge.

PLoS Comput Biol 2021 Apr 16;17(4):e1008878. Epub 2021 Apr 16.

Department of Biomolecular Engineering, University of California, Santa Cruz, California, United States of America.

Advancements in sequencing have led to the proliferation of multi-omic profiles of human cells under different conditions and perturbations. In addition, many databases have amassed information about pathways and gene "signatures"-patterns of gene expression associated with specific cellular and phenotypic contexts. An important current challenge in systems biology is to leverage such knowledge about gene coordination to maximize the predictive power and generalization of models applied to high-throughput datasets. Read More

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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after one year of age.

J Inherit Metab Dis 2021 Apr 16. Epub 2021 Apr 16.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

Citrin deficiency develops in different symptomatic periods from the neonatal period to adulthood. Some infantile patients are diagnosed by newborn mass screening or symptoms of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), some patients in childhood may develop hepatopathy or dyslipidemia as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some adults are diagnosed after developing adult-onset type 2 citrullinemia (CTLN2) with hyperammonemia or encephalopathy. A diagnosis is needed before the development of severe phenotypic CTLN2 but is often difficult to obtain because newborn mass screening cannot detect all patients with citrin deficiency, and undiagnosed patients often appear healthy in childhood. Read More

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Evolutionary drivers of sexual signal variation in Amazon Slender Anoles.

Evolution 2021 Apr 16. Epub 2021 Apr 16.

Department of Vertebrate Zoology, National Museum of Natural History, Smithsonian Institution, Washington, DC, USA.

Phenotypic variation among populations, as seen in the signaling traits of many species, provides an opportunity to test whether similar factors generate repeated phenotypic patterns in different parts of a species' range. We investigated whether genetic divergence, abiotic gradients, and sympatry with closely related species explain variation in the dewlap colors of Amazon Slender Anoles, Anolis fuscoauratus. To this aim, we characterized dewlap diversity in the field with respect to population genetic structure and evolutionary relationships, assessed whether dewlap phenotypes are associated with climate or landscape variables, and tested for non-random associations in the distributions of A. Read More

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Microbacterium helvum sp. nov., a novel actinobacterium isolated from cow dung.

Arch Microbiol 2021 Apr 16. Epub 2021 Apr 16.

Key Laboratory of Agricultural Microbiology of Heilongjiang Province, Northeast Agricultural University, No. 59 Mucai Street, Xiangfang District, Harbin, 150030, People's Republic of China.

A Gram-positive, aerobic, non-motile, non-spore-forming, short rod-shaped strain, NEAU-LLC, was isolated from cow dung in Shangzhi City, Heilongjiang Province, Northeast China and identified by a polyphasic taxonomic study. Colonies was light yellow, round, with entire margin. Strain NEAU-LLC was grown at 15-45 ℃ and pH 6. Read More

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Halomonas maris sp. nov., a moderately halophilic bacterium isolated from sediment in the southwest Indian Ocean.

Arch Microbiol 2021 Apr 15. Epub 2021 Apr 15.

Key Laboratory of Marine Genetic Resources, Third Institute of Oceanography, Ministry of Natural Resources, Xiamen, 361005, China.

A halophilic, Gram-staining-negative, rod-shaped, flagellated and motile bacterium, strain QX-1, was isolated from deep-sea sediment at a depth of 3332 m in the southwestern Indian Ocean. Strain QX-1 growth was observed at 4-50 °C (optimum 37 °C), pH 5.0-11. Read More

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-Adamantyl Phthalimidine: A New Thalidomide-like Drug That Lacks Cereblon Binding and Mitigates Neuronal and Synaptic Loss, Neuroinflammation, and Behavioral Deficits in Traumatic Brain Injury and LPS Challenge.

ACS Pharmacol Transl Sci 2021 Apr 30;4(2):980-1000. Epub 2021 Mar 30.

Drug Design & Development Section, Translational Gerontology Branch, Intramural Research Program National Institute on Aging, NIH, Baltimore, Maryland 21224, United States.

Neuroinflammation contributes to delayed secondary cell death following traumatic brain injury (TBI), has the potential to chronically exacerbate the initial insult, and represents a therapeutic target that has largely failed to translate into human efficacy. Thalidomide-like drugs have effectively mitigated neuroinflammation across cellular and animal models of TBI and neurodegeneration but are complicated by adverse actions in humans. We hence developed -adamantyl phthalimidine (NAP) as a new thalidomide-like drug to mitigate inflammation without binding to cereblon, a key target associated with the antiproliferative, antiangiogenic, and teratogenic actions seen in this drug class. Read More

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The Importance of Proper Oxygenation in 3D Culture.

Front Bioeng Biotechnol 2021 30;9:634403. Epub 2021 Mar 30.

Department of Surgery, Diabetes Research Institute, Leonard M. Miller School of Medicine, University of Miami, Coral Gables, FL, United States.

Cell culture typically employs inexpensive, disposable plasticware, and standard humidified CO/room air incubators (5% CO, ∼20% oxygen). These methods have historically proven adequate for the maintenance of viability, function, and proliferation of many cell types, but with broad variation in culture practices. With technological advances it is becoming increasingly clear that cell culture is not a "one size fits all" procedure. Read More

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Concomitant Obstructive Sleep Apnoea in Patients with Meniere's Disease: A Case Report and Literature Review.

Case Rep Otolaryngol 2021 23;2021:5592611. Epub 2021 Mar 23.

Novena Ent-Head & Neck Surgery Specialist Centre, 04-21/22/34, Mount Elizabeth Novena Medical Centre, 38 Irrawaddy Road, Singapore.

Meniere's disease (MD) is a condition characterised by fluctuating and progressive hearing loss, aural fullness, tinnitus, and intermittent attacks of vertigo. The disabling vertigo symptoms can be controlled in most patients by lifestyle changes and medications such as diuretics. Should standard medical therapy fail, the patient may require surgery in order to control the disease, but such surgical procedures can be functionally destructive. Read More

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One hundred research questions in conservation physiology for generating actionable evidence to inform conservation policy and practice.

Conserv Physiol 2021 7;9(1):coab009. Epub 2021 Apr 7.

Securing Antarctica's Environmental Future, School of Biological Sciences, Monash University, Clayton, Victoria 3800, Australia.

Environmental change and biodiversity loss are but two of the complex challenges facing conservation practitioners and policy makers. Relevant and robust scientific knowledge is critical for providing decision-makers with the actionable evidence needed to inform conservation decisions. In the Anthropocene, science that leads to meaningful improvements in biodiversity conservation, restoration and management is desperately needed. Read More

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Identification of Piperidine-3-carboxamide Derivatives Inducing Senescence-like Phenotype with Antimelanoma Activities.

ACS Med Chem Lett 2021 Apr 22;12(4):563-571. Epub 2021 Mar 22.

Medicinal Chemistry Group, Institut Pasteur Korea, 16 Daewangpangyo-ro 712 beon-gil, Bundang-gu, Seongnam-si, Gyeonggi-do 13488, South Korea.

This study evaluated the potential use of senescence-inducing small molecules in the treatment of melanoma. We screened commercially available small-molecule libraries with high-throughput screening and high-content screening image-based technology. Our findings showed an initial hit with the embedded -arylpiperidine-3-carboxamide scaffold-induced senescence-like phenotypic changes in human melanoma A375 cells without serious cytotoxicity against normal cells. Read More

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Integrated Genome-Wide Analysis of MicroRNA Expression Quantitative Trait Loci in Pig Longissimus Dorsi Muscle.

Front Genet 2021 30;12:644091. Epub 2021 Mar 30.

Department of Animal Science, Michigan State University, East Lansing, MI, United States.

Determining mechanisms regulating complex traits in pigs is essential to improve the production efficiency of this globally important protein source. MicroRNAs (miRNAs) are a class of non-coding RNAs known to post-transcriptionally regulate gene expression affecting numerous phenotypes, including those important to the pig industry. To facilitate a more comprehensive understanding of the regulatory mechanisms controlling growth, carcass composition, and meat quality phenotypes in pigs, we integrated miRNA and gene expression data from muscle samples with genotypic and phenotypic data from the same animals. Read More

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Ganglioside GD3 May Suppress the Functional Activities of Benign Skin T Cells in Cutaneous T-Cell Lymphoma.

Front Immunol 2021 30;12:651048. Epub 2021 Mar 30.

Department of Dermatology, Course of Integrated Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.

In cutaneous T-cell lymphoma (CTCL), which arises from skin-tropic memory T cells, malignant T cells and benign T cells are confined in the same skin lesions. It is thus difficult to evaluate the phenotypic characteristics and functional activities of benign T cells in CTCL. Disialoganglioside with three glycosyl groups (GD3) is increasingly expressed on the surface of solid malignant tumor cells and takes part in tumor progression and suppression of tumor immunity. Read More

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Correlational selection in the age of genomics.

Nat Ecol Evol 2021 Apr 15. Epub 2021 Apr 15.

Department of Biology, Lund University, Lund, Sweden.

Ecologists and evolutionary biologists are well aware that natural and sexual selection do not operate on traits in isolation, but instead act on combinations of traits. This long-recognized and pervasive phenomenon is known as multivariate selection, or-in the particular case where it favours correlations between interacting traits-correlational selection. Despite broad acknowledgement of correlational selection, the relevant theory has often been overlooked in genomic research. Read More

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