Search Results - "phenotyping"

Case report: A gain-of-function of hamartin may lead to a distinct "inverse TSC1-hamartin" phenotype characterized by reduced cell growth by Andrea D. Praticò, Raffaele Falsaperla, Mattia Comella, Giuseppe Belfiore, Agata Polizzi, Martino Ruggieri

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A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum by Mobarakeh Ajam-Hosseini, Farshid Parvini, Abdolhamid Angaji

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Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration by González Eva, Vilardell Mireia, del Campo Miguel, Cuscó Ivon, Gener Blanca, Galán Enrique, Toledo Laura, Pérez-Jurado Luis A

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Pan-Phosphodiesterase Inhibitors Attenuate TGF-β-Induced Pro-Fibrotic Phenotype in Alveolar Epithelial Type II Cells by Downregulating Smad-2 Phosphorylation by Katarzyna Wójcik-Pszczoła, Grażyna Chłoń-Rzepa, Agnieszka Jankowska, Bruno Ferreira, Paulina Koczurkiewicz-Adamczyk, Elżbieta Pękala, Elżbieta Wyska, Krzysztof Pociecha, Reinoud Gosens

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Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma by Silvia Vannelli, Raffaele Buganza, Federica Runfola, Ilaria Mussinatto, Antonio Andreacchio, Luisa de Sanctis

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NOD/Scid IL2Rγnull Mice Reconstituted with PBMCs from Patients with Atopic Dermatitis or Psoriasis Vulgaris Reflect the Respective Phenotype by Marietta Schindler, Paula Schuster-Winkelmann, Veronika Weß, Sophia Czell, Franziska Rueff, Andreas Wollenberg, Matthias Siebeck, Roswitha Gropp

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Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia by Daniel Fil, Balu K. Chacko, Robbie Conley, Xiaosen Ouyang, Jianhua Zhang, Victor M. Darley-Usmar, Aamir R. Zuberi, Cathleen M. Lutz, Marek Napierala, Jill S. Napierala

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Mesenchymal Stem Cells Derived and Cultured from Glioblastoma Multiforme Increase Tregs, Downregulate Th17, and Induce the Tolerogenic Phenotype of Monocyte-Derived Cells by Kalina Tumangelova-Yuzeir, Emanuil Naydenov, Ekaterina Ivanova-Todorova, Ekaterina Krasimirova, Georgi Vasilev, Sevdalin Nachev, Dobroslav Kyurkchiev

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Comparison of ertapenem non-susceptibility with 2-mercaptopropionic acid phenotypic tests in predicting NDM-1 and IMP-1 production in clinical isolates of Escherichia coli by Zahra Shahandeh, Narges Kalantari, Farahnaz Sadigian

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Hereditary melanoma: a five-year study of Brazilian patients in a cancer referral center - phenotypic characteristics of probands and pathological features of primary tumors by Bianca Costa Soares de Sá, Luciana Facure Moredo, Elimar Elias Gomes, Erica Sara Souza de Araújo, João Pedreira Duprat

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Aminoglycoside 6'-<i>N</i>-acetyltransferase Type Ib [AAC(6')-Ib]-Mediated Aminoglycoside Resistance: Phenotypic Conversion to Susceptibility by Silver Ions by Craig M. Reeves, Jesus Magallon, Kenneth Rocha, Tung Tran, Kimberly Phan, Peter Vu, Yang Yi, Crista L. Oakley-Havens, José Cedano, Verónica Jimenez, Maria S. Ramirez, Marcelo E. Tolmasky

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Phenotypic patient profiling for improved implementation of guideline-directed medical therapy: An exploratory analysis in a large real-world chronic heart failure cohort by Sumant P. Radhoe, Pascal R. D. Clephas, Gerard C. M. Linssen, Remko M. Oortman, Frank J. Smeele, Annemarie A. Van Drimmelen, Henk-Jan Schaafsma, Paul H. Westendorp, Hans-Peter B, Jasper J. Brugts

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Genotypic and Phenotypic Evaluation of Biofilm Production and Antimicrobial Resistance in <i>Staphylococcus aureus</i> Isolated from Milk, North West Province, South Africa by Marie Ebob Agbortabot Bissong, Collins Njie Ateba

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A refractory heterogeneous Cryopyrin-Associated Periodic Syndrome (CAPS) phenotype related to <it>V198M</it> mutation responds to canakinumab - a case report by Kuemmerle-Deschner Jasmin B, Rieber Nikolaus, Moll Monika, Zimmer Christiane, Hansmann Sandra

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A Combined Human in Silico and CRISPR/Cas9-Mediated in Vivo Zebrafish Based Approach to Provide Phenotypic Data for Supporting Early Target Validation by Matthew J. Winter, Yosuke Ono, Jonathan S. Ball, Anna Walentinsson, Erik Michaelsson, Anna Tochwin, Steffen Scholpp, Charles R. Tyler, Steve Rees, Malcolm J Hetheridge, Mohammad Bohlooly-Y

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The intestinal carrier status of Enterococcus spp. in children: clonal diversity and alterations in resistance phenotypes before and after admission to a pediatric intensive care unit by Fariba Shirvani, Romina Hassanzadeh, Bahareh Attaran, Ghazale Ghandchi, Nafiseh Abdollahi, Zari Gholinejad, Zahra Sheikhi, Azita Behzad, Fatemeh Fallah, Leila Azimi, Azam Safarkhani, Abdollah Karimi, Alireza Mahdavi, Shahnaz Armin, Roxana Mansour Ghanaiee, Sedigheh Rafiei Tabatabaei, Seyed Alireza Fahimzad, Masoud Alebouyeh

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Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time by Olga Blagova, Indira Alieva, Eugenia Kogan, Alexander Zaytsev, Vsevolod Sedov, S. Chernyavskiy, Yulia Surikova, Ilya Kotov, Elena V. Zaklyazminskaya

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PGF2α induces a pro-labour phenotypical switch in human myometrial cells that can be inhibited with PGF2α receptor antagonists by Isabel Hamshaw, Anne Straube, Richard Stark, Laura Baxter, Mohammad T. Alam, Walter J. Wever, Jun Yin, Yong Yue, Philippe Pinton, Philippe Pinton, Aritro Sen, Gregory D. Ferguson, Andrew M. Blanks, Andrew M. Blanks

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Astragalus polysacharin inhibits hepatocellular carcinoma-like phenotypes in a murine HCC model through repression of M2 polarization of tumour-associated macrophages by Chun Li, Xin-You Pan, Mingyun Ma, Jun Zhao, Fengda Zhao, Ya-Ping Lv

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Corpus cavernosum smooth muscle cell dysfunction and phenotype transformation are related to erectile dysfunction in prostatitis rats with chronic prostatitis/chronic pelvic pain syndrome by Guang-chun Wang, Tian-run Huang, Yang-yang Hu, Ke-yi Wang, Heng Shi, Lei Yin, Bo Peng

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