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2781
The Role of Plant DNA Methylation in Development, Stress Response, and Crop Breeding
Published 2024-12-01“…Altered methylation patterns can profoundly affect plant development, often resulting in atypical phenotypes. The regulation of these methylation states relies on the coordinated actions of de novo methylation, maintenance, and active demethylation, orchestrated by specialized enzymes within distinct pathways. …”
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2782
Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba
Published 2023-05-01“…An autosomal dominant inheritance pattern was identified. Based on the phenotypic characteristics and family history, the case presented was classified as congenital pachyonychia type 1, for which there is still no cure and gene therapy is under investigation. …”
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2783
Lack of adipocyte FAM20C improves whole body glucose homeostasis
Published 2024-11-01“…Additionally, knockout mice exhibited improved metabolic phenotypes, including enhanced glucose tolerance and insulin sensitivity compared with control mice. …”
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2784
Aspergillus section Versicolores: nine new species and multilocus DNA sequence based phylogeny
Published 2012-06-01“…Aspergillus austroafricanus, A. creber, A. cvjetkovicii, A. fructus, A. jensenii, A. puulaauensis, A. subversicolor, A. tennesseensis and A. venenatus are described as new species and A. amoenus, A. protuberus, A. sydowii, A. tabacinus and A. versicolor are accepted as distinct species on the basis of molecular and phenotypic differences. PCR primer pairs used to detect A. versicolor in sick building syndrome studies have a positive reaction for all of the newly described species except A. subversicolor.…”
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2785
Blastoid Variant Mantle Cell Lymphoma Expressing Aberrant CD3 and CD10 with Concurrent Small Lymphocytic Lymphoma: Establishment of a Clonal Relationship by B- and T-Cell Receptor...
Published 2018-01-01“…We report a blastoid variant of mantle cell lymphoma (MCL) involving an inguinal lymph node that, in addition to classical phenotypic and genetic findings, also aberrantly coexpresses surface CD10 and cytoplasmic CD3. …”
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2786
Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family
Published 2018-01-01“…Hearing loss levels and progression involved by PTPRQ mutations among the existing cases seem to be varied, and the relationship between genotypes and phenotypes is unclear. Our data here further prove the important role of PTPRQ in auditory function and provide more information for the further mechanism research of PTPRQ-related hearing loss.…”
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2787
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review
Published 2020-01-01“…Recent studies have shown that both diseases could present with a wide phenotypic spectrum, with promising survival up to early childhood. …”
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2788
Expert insights on Hodgkin’s lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment
Published 2025-01-01“…Activated PI3K delta syndrome (APDS) is a primary immunodeficiency that is caused by mutations in the PI3K signalling pathway resulting in either gain-of-function or loss-of-function phenotypes of APDS 1 and 2. Malignancy is one of the most serious complications associated with APDS patients, with the most commonly occurring of these being lymphoma, and is the most common cause of death in APDS patients. …”
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2789
Brain-derived tau oligomer polymorphs: distinct aggregations, stability profiles, and biological activities
Published 2025-01-01“…The distinct tau oligomeric polymorphs may thus contribute to the development of clinical phenotypes and shape the progression of diseases. Our results can provide insight into developing personalized therapy to target a specific neurotoxic tau polymorph.…”
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2790
Identification of Mycobacterium tuberculosis and its Drug Resistance by Targeted Nanopore Sequencing Technology
Published 2025-02-01“…Traditional culture-based phenotypic drug susceptibility testing is time-consuming, and PCR-based assays are restricted to detecting known mutational hotspots. …”
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2791
Integrating melt electrospinning writing and microfluidics to engineer a human cardiac microenvironment for high-fidelity drug screening
Published 2025-03-01“…In this study, we constructed a Cardiomyocytes-on-a-Chip (CoC) that combines micro-grooves (MGs) and circulating mechanical stimulation to recapitulate the well-organized structure and stable beating of myocardial tissue. The phenotypic changes and maturation of CMs cultured on the CoC have been verified and can be used for the evaluation of cardiotoxicity and cardioprotective drug responses. …”
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2792
Quantitative CT: Associations between Emphysema, Airway Wall Thickness and Body Composition in COPD
Published 2011-01-01“…The objective of the present study was to determine the association between CT phenotypes—emphysema by low attenuation area and bronchitis by airway wall thickness—and body composition parameters in a large cohort of subjects with and without COPD. …”
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2793
Peripheral contributions to resting state brain dynamics
Published 2024-12-01“…These results demonstrate the influence of extrinsic influences on resting state brain phenotypes in health and disease.…”
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2794
Multiple resistance factors collectively promote inoculum-dependent dynamic survival during antimicrobial peptide exposure in Enterobacter cloacae.
Published 2024-08-01“…Single-cell analysis of E. cloacae's response to cecropin revealed marked heterogeneity in cell survival, phenotypically reminiscent of heteroresistance (the ability of a subpopulation to grow in the presence of supra-MIC concentration of antimicrobial). …”
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2795
Rozwój genetyki i nauk żywieniowych a działania na rzecz zachowania zdrowia
Published 2005-12-01“…Based on genetic and nutritional studies the best way for expression of healthier phenotypes should be found and used to promote health and prevent different diseases development.…”
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2796
Vitamin D Binding Protein and Bone Health
Published 2014-01-01“…Several genetic polymorphisms of DBP have been described that lead to phenotypic changes in the protein that may affect affinity, activity, and concentration. …”
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2797
A Mathematical Model for DNA Damage and Repair
Published 2010-01-01“…The model allows us to examine the effect of phenotypic and genotypic factors such as different concentrations of estrogen and variant enzyme haplotypes on the formation and repair of DNA adducts.…”
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2798
Sensibilisation à l’environnement d’un collège alsacien et d’une école malgache
Published 2015-12-01“…Three annual visits to the zoo allow to children (1) to enhance their understanding of the fauna and flora, this aspect being completed by a personal bibliography produced by children; (2) to introduce notions on the phenotypic classification of primates by observing animals and the help of simple arrays of determining criteria ; (3) to improve their ecological awareness with tangible and common examples like the deforestation in Madagascar or the invasive species introduction, pupils are invited to think about these subjects and to suggest theoretical solutions ; (4) to observe the interspecific behavioral differences and the sexual hierarchy of lemurs using simple ethological observations ("all occurrences sampling" methods) of several species.…”
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2799
Persistent Müllerian Duct Syndrome: Understanding the Challenges
Published 2022-01-01“…Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive condition defined by the presence of Müllerian duct-derived structures in an otherwise normally masculinized phenotypical and genotypical (46,XY) male. We describe the case of an infant diagnosed with PMDS, managed and followed up for 7 years. …”
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2800
Management of Climatic Factors for Successful Silkworm (Bombyx mori L.) Crop and Higher Silk Production: A Review
Published 2012-01-01“…The seasonal differences in the environmental components considerably affect the genotypic expression in the form of phenotypic output of silkworm crop such as cocoon weight, shell weight, and cocoon shell ratio. …”
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