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2721
Two novel species of Aspergillus section Nigri from indoor air
Published 2012-12-01“…To describe the species we used phenotypes from 7-d Czapek yeast extract agar culture (CYA), creatine agar culture (CREA) and malt extract agar culture (MEA), with support by molecular analysis of the β-tubulin, calmodulin, RNA polymerase II (RPB2), and translation elongation factor-alpha (TEF) gene amplified and sequenced from 56 air isolates and one isolate from almonds belonging to Aspergillus section Nigri. …”
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2722
mTOR Inhibition: From Aging to Autism and Beyond
Published 2013-01-01“…Although overly simplistic, this framework can be useful when considering the myriad functions ascribed to mTOR and the pleiotropic phenotypes associated with genetic or pharmacological modulation of mTOR signaling. …”
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2723
Network-assisted target identification for haploinsufficiency and homozygous profiling screens.
Published 2017-06-01“…With the drug-induced phenotypic fitness defect of the deletion of a gene, GIT also incorporates the fitness defects of the gene's neighbors in the genetic interaction network. …”
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2724
Palmoplantar plaque psoriasis responsive to upadacitinib: A report of two cases
Published 2025-02-01“…Palmoplantar plaque psoriasis is more resistant to therapy compared to other phenotypes of psoriasis. To our knowledge, there are no reports of the efficacy of Janus kinase (JAK) inhibitors for palmoplantar plaque psoriasis. …”
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2725
Alternative Splicing Programs in Prostate Cancer
Published 2013-01-01“…Although the initial antiandrogenic therapies are efficacious, PCa often evolves into a hormone-resistant, incurable disease. The genetic and phenotypic heterogeneity of this type of cancer renders its diagnosis and cure particularly challenging. …”
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2726
Diagnosing Growth Hormone Deficiency in Adults
Published 2012-01-01“…Adult growth hormone (GH) deficiency is a recognised syndrome associated with adverse phenotypic, metabolic, and quality-of-life features which improve in many patients when GH is substituted. …”
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2727
Histological and Immunohistochemical Characterization of a Case of Endometriosis in a Guinea Pig (Cavia tschudii)
Published 2017-01-01“…We suggest considering endometriosis among the other pathological phenotypes in animals displaying ovarian and uterine alterations and having a history of difficulties in conceiving.…”
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2728
Genetic Diversity of Upland Rice Germplasm in Malaysia Based on Quantitative Traits
Published 2012-01-01“…The higher magnitudes of genotypic and phenotypic coefficients of variation were recorded for flag leaf length-to-width ratio, spikelet fertility, and days to flowering. …”
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2729
Small variant benchmark from a complete assembly of X and Y chromosomes
Published 2025-01-01“…Abstract The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. …”
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2730
Dendritic Cells and Their Multiple Roles during Malaria Infection
Published 2016-01-01“…Different groups have shown that DCs act during Plasmodium infection, and data suggest that the phenotypically distinct DCs subsets are key factors in the regulation of immunity during infection. …”
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2731
EFFECT OF REARRANGEMENTS OF HOMOEOLOGOUS GROUP 2 CHROMOSOMES OF BREAD WHEAT ON SPIKE MORPHOLOGY
Published 2015-01-01“…Evaluations of spike phenotypes of the line with the supernumerary spikelet trait and Chinese Spring deletion lines carrying deletions of chromosomes 2A, 2B, and 2D demonstrated that deletion of a group 2 chromosome might alter spike morphology, resulting in development of supernumerary spikelets at rachis nodes and changes in spike length and density.…”
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2732
Signaling pathway mechanisms of circadian clock gene Bmal1 regulating bone and cartilage metabolism: a review
Published 2025-01-01“…Deletion of the core clock gene Bmal1 leads to pathological bone alterations, while the phenotypes are not consistent. Studies have shown that multiple signaling pathways are involved in the process of Bmal1 regulating bone and cartilage metabolism, but the exact regulatory mechanisms remain unclear. …”
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2733
Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection
Published 2020-06-01“…However, the clinical cardiac phenotypes of DRM are not yet fully understood. Herein, we report the first case of DRM with the de novo missense DES mutation, R454W, that is characterized by left ventricular non‐compaction cardiomyopathy, progressive cardiac conduction defect, spontaneous coronary artery dissection, and no skeletal muscle weakness. …”
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2734
Research progress of artificial intelligence in evaluating the efficacy of neoadjuvant chemotherapy for breast cancer
Published 2024-09-01“…The evolution of artificial intelligence (AI) technologies has precipitated the delineation and quantification of imaging-based phenotypic features, thereby translating these structural modifications into quantifiable data alterations. …”
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2735
Complete Morris Syndrome. Case Presentation
Published 2020-02-01“…Androgen insensitivity syndrome, Morris syndrome or testicular feminization is a disorder in sexual differentiation, in which the individual is phenotypically feminine, but with a man's genetic characteristics. …”
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2736
Association Analysis of ULK1 with Crohn’s Disease in a New Zealand Population
Published 2012-01-01“…In this sample, we were able to demonstrate an association between CD and several different ULK1 SNPs and haplotypes. Phenotypic analysis showed an association with age of diagnosis 17–40 years and inflammatory behaviour. …”
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2737
Mitochondrial disease and epilepsy in children
Published 2025-01-01“…This dysfunction can lead to a variety of clinical phenotypes, particularly affecting organs with high energy demands, such as the brain and muscles. …”
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2738
The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities
Published 2025-03-01“…Jacobsen syndrome (JS) is a rare contiguous gene deletion disorder characterized by a deletion at the terminal end of the long arm of chromosome 11. JS has various phenotypic features, such as neurodevelopmental delays and congenital heart defects. …”
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2739
Cytokine and Growth Factor Activation In Vivo and In Vitro after Spinal Cord Injury
Published 2016-01-01“…The excessive inflammatory Th1 and Th17 phenotypes observed after SCI tilt the scale towards a proinflammatory environment, which exacerbates the deleterious mechanisms present after the injury. …”
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2740
Which Are the Cells of Origin in Merkel Cell Carcinoma?
Published 2012-01-01“…Merkel cells (MCs), the neuroendocrine cells of the skin, were believed to be at the origin of MCC due to their phenotypic similarities. However, for several reasons, for example, heterogeneous differentiation of MCCs and postmitotic character of MCs, it is not very likely that MCC develops from differentiated MCs. …”
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