Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families by Yang Cao, Xiaolong Zhang, Lan Lan, Danyang Li, Jin Li, Linyi Xie, Fen Xiong, Lan Yu, Xiaonan Wu, Hongyang Wang, Qiuju Wang

“…This study focuses on two mitochondrial function-related genes which result in non-isolated AN, FDXR and TWNK, providing a summary and enrichment analysis of genes associated with non-isolated AN to elucidate the genotype-phenotype correlation and underlying mechanisms. Methods Seven independent Chinese Han patients with mutations in FDXR and TWNK underwent comprehensive clinical evaluations, genetic testing, and bioinformatics analyses. …”
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Better understanding the phenotypic effects of drugs through shared targets in genetic disease networks by Elena Díaz-Santiago, Aurelio A. Moya-García, Jesús Pérez-García, Raquel Yahyaoui, Raquel Yahyaoui, Christine Orengo, Florencio Pazos, James R. Perkins, James R. Perkins, James R. Perkins, Juan A. G. Ranea, Juan A. G. Ranea, Juan A. G. Ranea, Juan A. G. Ranea

“…Gaining traction in this field is the use of disease data linking genes with pathological phenotypes and combining this with drugtarget interaction data.MethodsWe introduce methodology to associate drugs with effects, both intended and adverse, using a tripartite network approach that combines drug-target and target-phenotype data, in which targets can be represented as proteins and protein domains.ResultsWe were able to detect associations for over 140,000 ChEMBL drugs and 3,800 phenotypes, represented as Human Phenotype Ontology (HPO) terms. …”
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Neutral drift upon threshold-like selection promotes variation in antibiotic resistance phenotype by Ayşe Nisan Erdoğan, Pouria Dasmeh, Raymond D. Socha, John Z. Chen, Benjamin E. Life, Rachel Jun, Linda Kiritchkov, Dan Kehila, Adrian W. R. Serohijos, Nobuhiko Tokuriki

“…Abstract Heritable phenotypic variation plays a central role in evolution by conferring rapid adaptive capacity to populations. …”
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Putative regulatory functions of SNPs associated with bronchial asthma, arterial hypertension and their comorbid phenotype by I. A. Goncharova, E. Yu. Bragina, I. Zh. Zhalsanova, M. B. Freidin, M. S. Nazarenko

“…The risk of developing a comorbid phenotype of AD and AH is associated with the A allele of rs7038716 and the T allele of rs7025144 of the TLR4/AL160272.2 genes, the A allele of rs1010461 of the ANG gene and the C allele of rs2022318 of the ABTB2/CAT genes. …”
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Phenotypic Variation in Fruit Morphology among Provenances of Sclerocarya birrea (A. Rich.) Hochst. by Idah Mkwezalamba, Chimuleke R. Y. Munthali, Edward Missanjo

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Carbon Sources for Yeast Growth as a Precondition of Hydrogen Peroxide Induced Hormetic Phenotype by Ruslana Vasylkovska, Natalia Petriv, Halyna Semchyshyn

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MOLECULAR MARKING OF SUNFLOWER LINES WITH DIFFERENT ABILITY TO SUPPRESSION OF THE CYTOPLASMIC MALE STERILITY PHENOTYPE by Yu. I. Karabitsina, I. N. Anisimova, V. A. Gavrilova, N. V. Alpatieva, A. G. Pinaev, E. B. Kuznetsova, V. T. Rozhkova

“…Ninety five lines of sunflower genetic collection differing by their ability to suppress the CMS phenotype were molecularly marked with the use of 7 primer pairs. …”
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Quality analysis of Idesia polycarpa fruit oil samples from cultivars with different phenotypes by Tianting Luo, Jiaqi Xu, Zhouqin Zhen, Xue Pan, Lang Feng, Likang Qin, Tingyuan Ren

“…To study the quality characteristics of Idesia polycarpa fruit oil (IPFO) samples under varying phenotypic traits and their differences, three typical phenotypic fruits of the same cultivar were compared, both morphologically and chemically. …”
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Transcription Factor Lbx1 Expression in Mouse Embryonic Stem Cell-Derived Phenotypes by Stefanie Schmitteckert, Cornelia Ziegler, Liane Kartes, Alexandra Rolletschek

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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients by Lane Fitzsimmons, Undiagnosed Diseases Network, Brett Beaulieu-Jones, Shilpa Nadimpalli Kobren

“…Seizures are a common and extreme phenotype that can result from diverse and often elusive pathways in patients with ultrarare or undiagnosed disorders. …”
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Clinically probable RBD is an early predictor of malignant non-motor Parkinson’s disease phenotypes by Alfonso Enrique Martinez-Nunez, Hunter Hutchinson, Patricia Coutinho, Filipe Pereira Sarmento, Venkat Srikar Lavu, Qingqi Yuan, Jagan Mohan Reddy Dwarampudi, Aysegul Gunduz, Gregory M. Pontone, Michael S. Okun, Joshua K. Wong

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Metabolic phenotype of adult mice offspring obtained from different variants of embryo transfer by M. V. Anisimova, Ya. Gong, N. S. Yudin, Yu. M. Moshkin, L. A. Gerlinskaya

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Styloid process phenotype and atheromatous plaque: Radiographic and bone density assessment in parathyroid disease by Adilia Mirela Pereira Lima Cid, Davi de Sá Cavalcante, Marcela Lima Gurgel, Ana Carolina Saraiva, Ana Alicia Sales Ricardo, Lúcio Mitsuo Kurita, Paulo Goberlânio de Barros Silva, Catarina Brasil d’Alva, Ana Rosa Pinto Quidute, Fabio Wildson Gurgel Costa

“…Purpose: This study aimed to assess the styloid process (TBSP) phenotype and to identify suggestive images of calcified atheromatous plaques (CAP) in panoramic radiographs of patients with primary hyperparathyroidism (PHPT) and post-surgical hypoparathyroidism (hypoPT). …”
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Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study by Lisa Golmard, Ariane Berdal, François Côme Ferré, Michael Frank, Bruno Gogly, Adrien Naveau, Hafida Chérifi, Joseph Emmerich, Frédérick Gaultier, Xavier Jeunemaitre, Benjamin P J Fournier

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5-Azacytidine Promotes an Inhibitory T-Cell Phenotype and Impairs Immune Mediated Antileukemic Activity by Thomas Stübig, Anita Badbaran, Tim Luetkens, York Hildebrandt, Djordje Atanackovic, Thomas M. C. Binder, Boris Fehse, Nicolaus Kröger

“…T-cells from healthy donors were treated with 5-Aza and analyzed by qRT-PCR and flow cytometry for changes in gene expression and phenotype. Functionality was assessed by a tumor lysis assay. …”
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Influence of N6-Methyladenosine Modification Gene HNRNPC on Cell Phenotype in Parkinson’s Disease by Wei Quan, Jia Li, Li Liu, Qinghui Zhang, Yidan Qin, Xiaochen Pei, Jiajun Chen

“…This study aimed to explore the N6-methyladenosine (m6A) modification genes involved in the pathogenesis of Parkinson’s disease (PD) through data analysis of the two data sets GSE120306 and GSE22491 in the GEO database and further explore its influence on cell phenotype in PD. We analyzed the differentially expressed genes and function enrichment analysis of the two sets of data and found that the expression of the m6A-modification gene HNRNPC was significantly downregulated in the PD group, and it played an important role in DNA metabolism, RNA metabolism, and RNA processing and may be involved in PD. …”
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Phenotypic Plasticity in Gut Length in the Planktivorous Filter-Feeding Silver Carp (Hypophthalmichthys molitrix) by Zhixin Ke, Xie Ping, Longgen Guo

“…Phenotypic plasticity widely exists in the external morphology of animals as well as the internal traits of organs. …”
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Abnormal Esophageal Scintigraphy Associates With a Distinct Clinical Phenotype in Patients With Systemic Sclerosis by Antonio D. Salas, Lisa R. Yanek, Laura K. Hummers, Ami A. Shah, Zsuzsanna H. McMahan

“…Objective In systemic sclerosis (SSc), absent contractility (AC) rather than ineffective esophageal motility on manometry is associated with a severe esophageal and extraintestinal phenotype. We sought to determine whether slow esophageal transit on scintigraphy associates with a comparable clinical phenotype to that of AC on manometry, as scintigraphy may serve as a noninvasive approach to risk‐stratify patients with SSc. …”
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Phenotypic Definition of the Progenitor Cells with Erythroid Differentiation Potential Present in Human Adult Blood by Valentina Tirelli, Barbara Ghinassi, Anna Rita Migliaccio, Carolyn Whitsett, Francesca Masiello, Massimo Sanchez, Giovanni Migliaccio

“…In Human Erythroid Massive Amplification (HEMA) cultures, AB mononuclear cells (MNC) generate 1-log more erythroid cells (EBs) than the corresponding CD34pos cells, suggesting that MNC may also contain CD34neg HPC. To clarify the phenotype of AB HPC which generate EBs in these cultures, flow cytometric profiling for CD34/CD36 expression, followed by isolation and functional characterization (colony-forming-ability in semisolid-media and fold-increase in HEMA) were performed. …”
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Mitochondrial DNA oxidation and content in different metabolic phenotypes of women with polycystic ovary syndrome by Mailén Rojo, Mailén Rojo, Hernán Pérez, Hernán Pérez, Andrea Liliana Millán, Andrea Liliana Millán, María Constanza Pautasso, Alejandra Duarte, Alejandra Duarte, Giselle Adriana Abruzzese, Alicia Beatriz Motta, Alicia Beatriz Motta, Gustavo Daniel Frechtel, Gustavo Daniel Frechtel, Gustavo Daniel Frechtel, Gloria Edith Cerrone, Gloria Edith Cerrone

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