Cloning Approaches for Identifying Aging and Longevity-Related Genes in Mammals by Davina C. Simoes, Efstathios S. Gonos

“…Several studies using different systems have identified a number of processes thought to contribute to the aging phenotype. Many differentially expressed genes have been implicated, but the mechanisms governing mammalian aging (and longevity) are not yet fully understood, and the list of concerned genes is still incomplete and fragmented. …”
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Mitochondrial Dynamics: In Cell Reprogramming as It Is in Cancer by Javier Prieto, Josema Torres

“…Given the significant physiological differences between the somatic and pluripotent cells, cell reprogramming is associated with a profound reorganization of the somatic phenotype at all levels. The remodeling of mitochondrial morphology is one of these dramatic changes that somatic cells have to undertake during cell reprogramming. …”
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Fractalkine and Other Chemokines in Primary Biliary Cirrhosis by Shinji Shimoda, Carlo Selmi, M. Eric Gershwin

“…To address this issue, we challenged BEC using multiple toll-like receptor (TLR) ligands as well as autologous liver infiltrating mononuclear cells (LMNC) with subsequent measurement of BEC phenotype and chemokine production and LMNC chemotaxis by quantifying specific chemokines, specially CX3CL1 (fractalkine). …”
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Orchestration of Adaptive T Cell Responses by Neutrophil Granule Contents by Danielle Minns, Katie Jane Smith, Emily Gwyer Findlay

“…We consider how the release of granule contents by neutrophils—through NETosis or degranulation—is one way in which the innate immune system directs the phenotype of the adaptive immune response.…”
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Maternal Life-Histories of Multiple Birth Mothers Compared to Singleton Only Mothers in 19th and Early 20th Century Netherlands by Peter Ekamper, Frans van Poppel

“…Research on mothers of twins suggests they have a more robust phenotype compared to singleton only mothers. Historical demographic microdata can be of additional value in studying differences in reproductive behaviour and survival of their offspring between multiple birth mothers and singleton only mothers. …”
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Toward an Integrated Clinical, Molecular and Serological Classification of Inflammatory Bowel Disease: Report of a Working Party of the 2005 Montreal World Congress of Gastroentero... by Mark S Silverberg, Jack Satsangi, Tariq Ahmad, Ian DR Arnott, Charles N Bernstein, Steven R Brant, Renzo Caprilli, Jean-Frédéric Colombel, Christoph Gasche, Karel Geboes, Derek P Jewell, Amir Karban, Edward V Loftus, A Salvador Peña, Robert H Riddell, David B Sachar, Stefan Schreiber, A Hillary Steinhart, Stephan R Targan, Severine Vermeire, Bryan F Warren

“…The discovery of a series of genetic and serological markers associated with disease susceptibility and phenotype in inflammatory bowel disease has led to the prospect of an integrated classification system involving clinical, serological and genetic parameters. …”
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RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa by Satoshi Katagiri, Takaaki Hayashi, Masakazu Akahori, Takeshi Itabashi, Jo Nishino, Kazutoshi Yoshitake, Masaaki Furuno, Kazuho Ikeo, Tetsuji Okada, Hiroshi Tsuneoka, Takeshi Iwata

“…Clinical phenotypes showed that patients with p.W126L exhibited sector RP, whereas patients with p.A346P exhibited classic RP. …”
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Hepatic Lamp2a deficiency promotes inflammation of murine autoimmune cholangitis via affecting bile acid metabolism by Qingling Fan, Guanya Guo, Yinan Hu, Yi Lu, Rui Su, Jiaqi Yang, Erzhuo Xia, Shuoyi Ma, Miao Zhang, Jingbo Wang, Ting Li, Ying Han

“…In this study, we showed that hepatic-specific Lamp2a deficiency could aggravate the inflammatory phenotype of murine autoimmune cholangitis. Mechanistically, the loss of Lamp2a in hepatocytes contributed to the abnormal accumulation of Acot8, thus altered the bile acid components, thereby enhancing the lymphocyte activities, and ultimately promoting the inflammatory phenotype of model mice. …”
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Toward autism spectrum disorders and Williams-Beuren syndrome co-occurrence condition in Tunisian patients: Genetic insights by Rim Khelifi, Afef Jelloul, Houda Ajmi, Wafa Slimani, Sarra Dimassi, Khouloud Rjiba, Manel Dardour, Moez Gribaa, Ali Saad, Soumaya Mougou-Zerelli

“…This highly recurrent and homogeneous phenotype has been curiously reported to be associated with autism spectrum disorders (ASD). …”
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Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations by D. E. Ivanoshchuk, S. V. Mikhailova, O. G. Fenkova, E. V. Shakhtshneider, A. Z. Fursova, I. V. Bychkov, M. I. Voevoda

“…The most severe clinical phenotype was observed in carriers of mutations in codon 444 of the gene. …”
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Investigating shared risk variants and genetic etiology between Alzheimer’s disease and three stress-related psychiatric disorders: a large-scale genome-wide cross-trait analysis by Weijia Dang, Tianqi Hao, Ning Li, Hualin Zhang, Ziqi Li, Hongmei Yu, Yalu Wen, Deqiang Zheng, Long Liu

“…Association analysis based on subsets and cross-phenotype association revealed thirteen risk variants in six genes shared between AD and post-traumatic stress disorder; seven risk variants in four genes shared between AD and anxiety disorder; and 23 risk variants in four genes shared between AD and major depressive disorder. …”
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Urachal Mucinous Cystic Tumor of Low Malignant Potential with Concurrent Sigmoid Colon Adenocarcinoma by Kelly Brennan, Paul Johnson, Heather Curtis, Thomas Arnason

“…Due to the intestinal phenotype of these neoplasms, a urachal tumor of low malignant potential could be mistaken for metastatic spread from a colonic adenocarcinoma in the rare situation such as this case, where the two neoplasms occur concurrently.…”
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Exposure to Glycolytic Carbon Sources Reveals a Novel Layer of Regulation for the MalT Regulon by Sylvia A. Reimann, Alan J. Wolfe

“…In this study, we show that the E. coli ompR malTcon double mutant exhibits a synthetic lethal phenotype that is environmentally conditional. MalTcon, the constitutively active form of the maltose system regulator MalT, causes elevated expression of the outer membrane porin LamB, which leads to death in the absence of the osmoregulator OmpR. …”
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TCA Cycle Defects and Cancer: When Metabolism Tunes Redox State by Simone Cardaci, Maria Rosa Ciriolo

“…This paper summarizes the neoplastic alterations of the TCA cycle enzymes focusing on the generation of pseudohypoxic phenotype and the alteration of epigenetic homeostasis as the main tumor-promoting effects of the TCA cycle affecting defects. …”
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Improving accessibility and distinction between negative results in biomedical relation extraction by Diana Sousa, Andre Lamurias, Francisco M. Couto

“…We propose to improve the distinction between these concepts, by revising a subset of the relations marked as false on the phenotype-gene relations corpus and give the first steps to automatically distinguish between the false (F), negative (N), and unknown (U) results. …”
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Reduced TCA Flux in Diabetic Myotubes: Determined by Single Defects? by Michael Gaster

“…The diabetic phenotype is complex, requiring elucidation of key initiating defects. …”
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Costello Syndrome. A case report by Yadelis Maldonado Martínez, Alexander Torres Molina, Diorgis Duran Lobaina

“…The clinical study and description of his physical characteristics were performed, detecting as main distinctive features: storage disease-like phenotype, failure to thrive, congenital heart disease, coarse facies, mental retardation and humorous personality. …”
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Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria by R. Magesh, C. George Priya Doss

“…There is a need to effectively and efficiently identify functionally important nsSNPs which may be deleterious or disease causing and to identify their molecular effects. The prediction of phenotype of nsSNPs by computational analysis may provide a good way to explore the function of nsSNPs and its relationship with susceptibility to disease. …”
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The Rise of CRISPR/Cas for Genome Editing in Stem Cells by Bing Shui, Liz Hernandez Matias, Yi Guo, Ying Peng

“…Genetic manipulation is a powerful tool to establish the causal relationship between a genetic lesion and a particular pathological phenotype. The rise of CRISPR/Cas9 genome-engineering tools overcame the traditional technical bottleneck for routine site-specific genetic manipulation in cells. …”
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Anti-HPA-1b Mediated Posttransfusion Purpura: A Case Report by O. P. Arewa, S. Nahirniak, G. Clarke

“…The patient was negative for HPA-1a antibodies, but anti-HPA-1b was identified with a platelet phenotype of HPA-1a/HPA-1a. Although less common, HPA-1b antibody may be an important consideration in posttransfusion purpura diagnosed in patients of African descent.…”
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