Combining metabolomic and transcriptomic approaches to assess and improve crop quality traits by Delphine M. Pott, Sara Durán-Soria, Sonia Osorio, José G. Vallarino

“…However, breeders traditionally focused on characteristics such as yield or pest resistance, while breeding for crop quality, which largely depends on the presence and accumulation of highly valuable metabolites in the plant edible parts, was left out due to the complexity of plant metabolome and the impossibility to properly phenotype it. Recent technical advances in high throughput metabolomic, transcriptomic and genomic platforms have provided efficient approaches to identify new genes and pathways responsible for the extremely diverse plant metabolome. …”
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Suboptimal but intact integration of Bayesian components during perceptual decision-making in autism by Laurina Fazioli, Bat-Sheva Hadad, Rachel N. Denison, Amit Yashar

“…Abstract Background Alterations in sensory perception, a core phenotype of autism, are attributed to imbalanced integration of sensory information and prior knowledge during perceptual statistical (Bayesian) inference. …”
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Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

“…Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD).…”
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Urinary bacteriophage cooperation with bacterial pathogens during human urinary tract infections supports lysogenic phage therapy by Mahmood Almosuli, Anna Kirtava, Archil Chkhotua, Lia Tsveniashvili, Nina Chanishvili, Sumaiya Safia Irfan, Emily Ng, Hope McIntyre, Adam J. Hockenberry, Robyn P. Araujo, Weidong Zhou, Ngoc Vuong, Barbara Birkaya, Lance Liotta, Alessandra Luchini

“…Using human urine, model organisms, mass spectrometry, gene expression analysis, and the phage phenotype prediction model BACPHLIP, the results corroborated our hypotheses at the functional protein and gene levels. …”
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RKIP Suppresses Breast Cancer Metastasis to the Bone by Regulating Stroma-Associated Genes by Elena Bevilacqua, Casey A. Frankenberger, Marsha Rich Rosner

“…In the past decade cancer research has recognized the importance of tumorstroma interactions for the progression of primary tumors to an aggressive and invasive phenotype and for colonization of new organs in the context of metastasis. …”
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Protective Effect of Uric Acid on ox-LDL-Induced HUVECs Injury via Keap1-Nrf2-ARE Pathway by Yajuan Lin, Yunpeng Xie, Zhujing Hao, Hailian Bi, Yang Liu, Xiaolei Yang, Yunlong Xia

“…HUVECs were treated with different concentrations of uric acid and ox-LDL to explore the effect of uric acid in vitro. Cell phenotype was determined by cytometry and Western blot. …”
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SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease by J. M. Ramirez, F. A. Rodríguez, M. I. Echeverría, A. L. Vargas, A. E. Calderón, R. M. Miatello, N. F. Renna

“…With the aim to find a relationship between karyotype and phenotype, we explored associated anomalies in Xp and certified the overdosage of the SHOX gene in this case by MLPA. …”
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Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases by Ibtihal Benhsaien, Fatima Ailal, Khadija Elazhary, Jalila El bakkouri, Abdallah Badou, Ahmed Aziz Bousfiha

“…The second case is a 4-month-old boy with a history of recurrent opportunistic infections, BCGitis, and failure to thrive, and the immunology workup confirms a SCID phenotype. The genetic study in the two cases revealed a novel mutation in the RAG2 gene, c.826G > A (p.Gly276Ser), in a homozygous state. …”
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Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism by Ivan Y. Iourov, Svetlana G. Vorsanova, Maria A. Zelenova, Sergei A. Korostelev, Yuri B. Yurov

“…Here, we have evaluated genomic copy number variation (CNV) in genes implicated in the cell cycle pathway (according to Kyoto Encyclopedia of Genes and Genomes/KEGG) within a cohort of patients with intellectual disability, autism, and/or epilepsy, in which the phenotype was not associated with genomic rearrangements altering this pathway. …”
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Microduplication of 3p26.3 Implicated in Cognitive Development by Leah Te Weehi, Raj Maikoo, Adrian Mc Cormack, Roberto Mazzaschi, Fern Ashton, Liangtao Zhang, Alice M. George, Donald R. Love

“…The CHL1 gene has been proposed as a dosage-sensitive gene with a central role in cognitive development, and so the microduplication reported here appears to be implicated in our patient’s phenotype.…”
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Screening and marker trait association for salinity tolerance in rice (Oryza sativa L.) by P. Hima Bindu1*, G. Shiva Prasad2, R.M. Sundaram3, K. Sumalini1 and C.H. Damodar Raju4

“…The range of 1.0% to 24.9% for the percentage of total variance of phenotype explained by the relevant markers indicates the dependability of these genetic markers for enhancing breeding for salinity tolerance. …”
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“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case by Anne-Laure Bonnet, Kevin Sceosole, Arabelle Vanderzwalm, Caroline Silve, Anne-Margaux Collignon, Celine Gaucher

“…Amelogenesis imperfecta (AI) represents rare tooth anomalies that affect the quality and/or quantity of the enamel. Clinical phenotypes display a wide spectrum, ranging from mild color changes to severe structural alterations with daily pain. …”
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ER Stress and Iron Homeostasis: A New Frontier for the UPR by Susana J. Oliveira, Maria de Sousa, Jorge P. Pinto

“…The responsiveness of the ER chaperone calreticulin to both ER and iron-induced oxidative stresses, and its correlation with HH patients’ phenotype, reinforce the interest of dissecting the UPR signaling/iron metabolism crosstalk and points to the potential clinical value of use of pharmacological chaperones in HFE-HH.…”
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Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12 by Berrin Tezcan, Foteini Emmanouella Bredaki

“…Understanding the individuals’ phenotype in association with the gain and loss of copy number is important and can further provide us with information on that particular region of the named chromosomes.…”
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Gastrointestinal Dysfunctions Are Associated with IL-10 Variants in Parkinson’s Disease by Li Shu, Dongxiao Liang, Hongxu Pan, Qian Xu, Xinxiang Yan, Beisha Tang, Qiying Sun

“…Because the two SNPs exposed significant linkage disequilibrium demonstrated by Haploview software, we included 177 carriers of both rs1800871 and rs1800872 and 190 noncarriers in clinical phenotype analyses. As to nonmotor symptoms, the score of the gastrointestinal dysfunction domain in Nonmotor Symptom Scale (NMSS) was lower in the carrier group of both SNPs than in the noncarrier group in PD patients (SC: −0.198, p:0.023). …”
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Creation of a novel zebrafish model with low DHA status to study the role of maternal nutrition during neurodevelopment by Katherine M. Ranard, Bruce Appel

“…We show that low DHA status during development is associated with an abnormal eye phenotype and demonstrate that even morphologically normal siblings exhibit dysregulated vision and stress response gene pathways. …”
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Expansion of Natural Killer Cells in Peripheral Blood in a Japanese Elderly with Human T-Cell Lymphotropic Virus Type 1-Related Skin Lesions by Shinsaku Imashuku, Naoko Kudo, Kagekatsu Kubo, Kouichi Ohshima

“…Flow cytometry of his peripheral blood showed a phenotype of CD2+ (97%), CD3+ (17%), CD4+ (12%), CD7+ (94%), CD8+ (6%), CD11c+ (70%), CD16+ (82%), CD19+ (0%), CD20+ (0%), CD56+ (67%), HLA-DR+ (68%), and NKp46+ (36%). …”
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Proinflammatory Cytokines Increase Vascular Endothelial Growth Factor Expression in Alveolar Epithelial Cells by James P. Maloney, Li Gao

“…Increased VEGF expression likely contributes to the pathogenesis of inflammatory lung diseases and to the angiogenic phenotype of lung cancer, a disease typically preceded by chronic inflammation.…”
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Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder by Syouichi Katayama, Noriyuki Sueyoshi, Tetsuya Inazu, Isamu Kameshita

“…We also discuss the relationship between changes in the phosphorylation signalling pathways and the Cdkl5 knockout mouse phenotype and consider future prospects for the treatment of mental and neurological disease associated with CDKL5 mutations.…”
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A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset by Ján Necpál, Martin Stelzer, Silvia Koščová, Michal Patarák

“…Various neurodegenerative disorders are manifested with CBS as a clinical phenotype, including corticobasal degeneration (CBD), progressive supranuclear palsy, Alzheimer’s disease, and CJD. …”
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