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  1. 2781

    The Role of Plant DNA Methylation in Development, Stress Response, and Crop Breeding by Shuai Qiao, Wei Song, Wentao Hu, Fang Wang, Anzhong Liao, Wenfang Tan, Songtao Yang

    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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  2. 2782

    Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba by Migdalis Hidalgo Muñiz, Aracelis Hernández García, Andrés Andrés Matos, Yadelis Maldonado Martínez

    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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  3. 2783

    Lack of adipocyte FAM20C improves whole body glucose homeostasis by Liping Deng, Yanshan Huang, Feifei Zhao, Puxin Chen, Xiaohong Huang

    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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  4. 2784

    Aspergillus section Versicolores: nine new species and multilocus DNA sequence based phylogeny by Z. Jurjevic, S.W. Peterson, B.W. Horn

    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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  5. 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... by Christopher L. Felten, Joel A. Chan, Dulce R. DeCastro, Jean Lopategui, Swapnil P. Rajurkar

    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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  6. 2786

    Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family by Xia Wu, Shan Wang, Sen Chen, Ying-ying Wen, Bo Liu, Wen Xie, Dan Li, Lin Liu, Xiang Huang, Yu Sun, Wei-jia Kong

    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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  7. 2787

    CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review by Sandra Sabbagh, Stephanie Antoun, André Mégarbané

    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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  8. 2788

    Expert insights on Hodgkin’s lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment by Francesca Conti, Francesca Conti, Mattia Moratti, Mattia Moratti, Elena Sabattini, Pier Luigi Zinzani, Pier Luigi Zinzani

    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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    Article
  9. 2789

    Brain-derived tau oligomer polymorphs: distinct aggregations, stability profiles, and biological activities by Filippa Lo Cascio, Suhyeorn Park, Urmi Sengupta, Nicha Puangmalai, Nemil Bhatt, Nikita Shchankin, Cynthia Jerez, Naomi Moreno, Alice Bittar, Rhea Xavier, Yingxin Zhao, Cankun Wang, Hongjun Fu, Qin Ma, Mauro Montalbano, Rakez Kayed

    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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    Article
  10. 2790

    Identification of Mycobacterium tuberculosis and its Drug Resistance by Targeted Nanopore Sequencing Technology by Chen Tang, Feng Xu, Xiaoqun Zheng, Guangxin Xiang

    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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  11. 2791

    Integrating melt electrospinning writing and microfluidics to engineer a human cardiac microenvironment for high-fidelity drug screening by Yu-hong Wang, Ting-ting Liu, Yan-ping Guo, Shuo-ji Zhu, Zi-ming Liao, Jia-mei Song, Xi-ming Zhu, Jia-liang Liang, Moussa Ide Nasser, Nan-bo Liu, De-hua Chang, Ping Zhu, Bin Yao

    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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  12. 2792

    Quantitative CT: Associations between Emphysema, Airway Wall Thickness and Body Composition in COPD by Erica P. A. Rutten, Thomas B. Grydeland, Sreekumar G. Pillai, Scott Wagers, Asger Dirksen, Harvey O. Coxson, Amund Gulsvik, Emiel F. M. Wouters, Per S. Bakke

    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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  13. 2793

    Peripheral contributions to resting state brain dynamics by Sarah Bricault, Miranda Dawson, Jiyoung Lee, Mitul Desai, Miriam Schwalm, Kevin Sunho Chung, Elizabeth DeTienne, Erinn Fagan, Nan Li, Andrew Becker, Sureshkumar Muthupalani, Jan-Philipp Fränken, Dimitris A. Pinotsis, Alan Jasanoff

    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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  14. 2794

    Multiple resistance factors collectively promote inoculum-dependent dynamic survival during antimicrobial peptide exposure in Enterobacter cloacae. by Andrew N Murtha, Misha I Kazi, Eileen Y Kim, Facundo V Torres, Kelly M Rosch, Tobias Dörr

    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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  15. 2795

    Rozwój genetyki i nauk żywieniowych a działania na rzecz zachowania zdrowia by Grażyna Nowicka

    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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  16. 2796

    Vitamin D Binding Protein and Bone Health by Ishir Bhan

    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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  17. 2797

    A Mathematical Model for DNA Damage and Repair by Philip S. Crooke, Fritz F. Parl

    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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  18. 2798

    Sensibilisation à l’environnement d’un collège alsacien et d’une école malgache by David Di Paolo

    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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  19. 2799

    Persistent Müllerian Duct Syndrome: Understanding the Challenges by Irene Chua, Naeem Samnakay

    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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  20. 2800

    Management of Climatic Factors for Successful Silkworm (Bombyx mori L.) Crop and Higher Silk Production: A Review by V. K. Rahmathulla

    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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