A Novel Multiplex LAMP Assay for the Rapid and Accurate Diagnosis of Visceral Leishmaniasis Caused by Leishmania infantum from Iran by Sahar Samsami, Sahar Namavari, Saeed Ataei, Abdolmajid Ghasemian, Ava Yazdanpanah, Neda Sepahi, Gholamreza Hatam, Hossein Faramarzi, Hadi Mirzaei, Razie Ranjbar, Ali Ghanbariasad

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The role of the KIBRA and APOE genes in developing spatial abilities in humans by A. V. Kazantseva, R. F. Enikeeva, Yu. D. Davydova, R. N. Mustafin, Z. R. Takhirova, S. B. Malykh, M. M. Lobaskova, T. N. Tikhomirova, E. K. Khusnutdinova

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Clinical manifestations, para-clinical features and outcome of Iranian adults with respiratory syncytial virus (RSV) infection: a report from hospitalized patients by Maryam Shafaati, Abbas Shakoori Farahani, Mohammadreza Salehi, Mohammad Arabzadeh, Helya Bolouki Azari, Arman Soleimany, Maryam Edalatifard, Vahid Salimi, Alireza Abdollahi

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E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development by Michela Di Michele, Aurore Attina, Pierre-François Roux, Imène Tabet, Sophie Laguesse, Javier Florido, Morane Houdeville, Armelle Choquet, Betty Encislai, Giuseppe Arena, Carlo De Blasio, Olivia Wendling, François-Xavier Frenois, Laura Papon, Lucille Stuani, Maryse Fuentes, Céline Jahannault Talignani, Mélanie Rousseau, Justine Guégan, Yoan Buscail, Pierrick Dupré, Henri-Alexandre Michaud, Geneviève Rodier, Floriant Bellvert, Hanna Kulyk, Carole Ferraro Peyret, Hugo Mathieu, Pierre Close, Francesca Rapino, Cédric Chaveroux, Nelly Pirot, Lucie Rubio, Adeline Torro, Tania Sorg, Fabrice Ango, Christophe Hirtz, Vincent Compan, Elise Lebigot, Andrea Legati, Daniele Ghezzi, Laurent Nguyen, Alexandre David, Claude Sardet, Matthieu Lacroix, Laurent Le Cam

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<i>Sambucus nigra</i>-Lyophilized Fruit Extract Attenuated Acute Redox–Homeostatic Imbalance via Mutagenic and Oxidative Stress Modulation in Mice Model on Gentamicin-Induced Nephr... by Kamelia Petkova-Parlapanska, Ivaylo Stefanov, Julian Ananiev, Tsvetelin Georgiev, Petya Hadzhibozheva, Veselina Petrova-Tacheva, Nikolay Kaloyanov, Ekaterina Georgieva, Galina Nikolova, Yanka Karamalakova

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Neutrophil-to-lymphocyte ratio and short-term mortality in patients having anti-MDA5-positive dermatomyositis with interstitial lung disease: a retrospective study by Hongxia Xin, Ping He, Bin Xi, Zhaojun Wang, Han Wang, Faxuan Wang, Zhanbing Ma, Jing Xue, Yuanyuan Jia, Hourong Cai, Bi Chen, Juan Chen

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Carotenoids in the treatment of age-related macular degeneration: a drug delivery system does matter by M.L. Maximov, Zh.G. Oganezova, I.D. Kanner, Voznesenskaya A.A

“…Voznesenskaya⁶ </p> <p> ¹Kazan State Medical Academy — Branch of the Russian Medical Academy of Continuous Professional Education, Kazan, Russian Federation </p> <p> ²Russian Medical Academy of Continuous Professional Education, Moscow, Russian Federation </p> <p> ³Pirogov Russian National Research Medical University, Moscow, Russian Federation </p> <p> ⁴Research Center for Medical Genetics, Moscow, Russian Federation </p> <p> ⁵Lomonosov Moscow State University, Moscow, Russian Federation </p> <p> ⁶National Medical Research Center of Endocrinology, Moscow, Russian Federation </p> <p> <br> </p> <p> Age-related macular degeneration (AMD) is one of the leading causes of low vision and blindness worldwide for people over age 60. …”
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Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report by Sultan Makhmetov, Kamila Temirkhanova, Saule Rakhimova, Nazerke Satvaldina, Ruslan Kalendar, Ulan Kozhamkulov, Aidos Bolatov, Mirgul Bayanova, Assiya Bazenova, Lyazzat Nazarova, Ainur Akilzhanova, Ulykbek Kairov

“…Moreover, according to various prediction tools (MutationTaster, SIFT, CADD, FATHMM-MKL, LRT, DANN, Eigen, and BayesDel), the mutation is characterized as pathogenic, which corresponds to the American College of Medical Genetics and Genomics (ACMG) classification. According to the findings, mutation of the CHRNA2 gene is closely associated with two disorders known as autosomal dominant nocturnal frontal epilepsy (ADNFLE), and benign familial infantile epilepsy (BFIS). …”
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The effects of growth hormone on the outcomes of in vitro fertilization and embryo transfer in age-grouped patients with decreased ovarian reserve: a prospective cohort study by Jiexiu Chen, Xumei Kong, Zonghui Luan, Yu Qiu, Yu Qiu, Shiqi Chen, Jesse Li−Ling, Yan Gong

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YAP-driven malignant reprogramming of oral epithelial stem cells at single cell resolution by Farhoud Faraji, Sydney I. Ramirez, Lauren M. Clubb, Kuniaki Sato, Valeria Burghi, Thomas S. Hoang, Adam Officer, Paola Y. Anguiano Quiroz, William M. G. Galloway, Zbigniew Mikulski, Kate Medetgul-Ernar, Pauline Marangoni, Kyle B. Jones, Yuwei Cao, Alfredo A. Molinolo, Kenneth Kim, Kanako Sakaguchi, Joseph A. Califano, Quinton Smith, Alon Goren, Ophir D. Klein, Pablo Tamayo, J. Silvio Gutkind

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Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China by Chuan Huang, Li-Ming Chu, Bo Liang, Hui-Lan Wu, Bai-Shun Li, Shuai Ren, Mei-Ling Hou, Hong-Chuan Nie, Ling-Yin Kong, Li-Qing Fan, Juan Du, Wen-Bing Zhu

“…All samples underwent exome sequencing (ES) analysis, and the pathogenicity was assessed according to the American College of Medical Genetics (ACMG) guidelines. Scoring for sperm donation matching, which was based on gene scoring and variant scoring, was also used to assess the consistency of sperm and blood genetic test results.Results A total of 108 pathogenic (P)/likely pathogenic (LP) variants in 82 genes were identified. …”
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Smart design in biopolymer-based hemostatic sponges: From hemostasis to multiple functions by Chen-Yu Zou, Chen Han, Fei Xing, Yan-Lin Jiang, Ming Xiong, Jesse Li-Ling, Hui-Qi Xie

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Lipopolymers as the Basis of Non-Viral Delivery of Therapeutic siRNA Nanoparticles in a Leukemia (MOLM-13) Model by Panadda Yotsomnuk, Amarnath Praphakar Rajendran, Daniel Nisakar Meenakshi Sundaram, Luis Carlos Morales, Cezary Kucharski, Mohammad Nasrullah, Wanwisa Skolpap, Xiaoyan Jiang, Spencer B. Gibson, Joseph Brandwein, Hasan Uludağ

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The role of inflammatory system genes in individual differences in nonverbal intelligence by R. F. Enikeeva, A. V. Kazantseva, Yu. D. Davydova, R. N. Mustafin, Z. R. Takhirova, S. B. Malykh, Y. V. Kovas, E. K. Khusnutdinova

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Genetic and audiological determinants of hearing loss in high-risk neonates by Yanan Shi, Naiyao Zhang, Na Du, Tongxi Zheng, Ying Yu, Youjin Li

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Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis by V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko

“…Zinchenko^1,3<br> ¹ Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow,&nbsp;Russian Federation<br> ² Pirogov Russian National Research Medical University, Moscow, Russian Federation<br> ³ M. …”
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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

“…Pathogenicity was assessed following American College of Medical Genetics and Genomics guidelines. Genes associated with non-isolated AN were summarized from prior reports, and functional enrichment analysis was conducted using Gene Ontology databases. …”
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Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease by Elisa Rubino, Maria Italia, Elisa Giorgio, Silvia Boschi, Paola Dimartino, Tommaso Pippucci, Fausto Roveta, Clara Maria Cambria, Gabriella Elia, Andrea Marcinnò, Salvatore Gallone, Ekaterina Rogaeva, Flavia Antonucci, Alfredo Brusco, Fabrizio Gardoni, Innocenzo Rainero

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Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis by Boram Kim, Seung Hun Lee, Chang Ho Ahn, Han Na Jang, Sung Im Cho, Jee-Soo Lee, Yu-Mi Lee, Su-Jin Kim, Tae-Yon Sung, Kyu Eun Lee, Woochang Lee, Jung-Min Koh, Moon-Woo Seong, Jung Hee Kim

“…Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines. …”
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Clinical And Molecular-Genetic Features Of Congenital Aniridia by T.A. Vasilieva, Voskresenskaya A. A, V.V. Kadyshev, N.A. Pozdeeva, A.V. Marakhonov, R.A. Zinchenko

“…^1,4<br> <br> ¹ Research Center for Medical Genetics, Moscow<br> ² Cheboksary branch of S. …”
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