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Shi Shu, Xingxing Lei, Fang Liu, Bo Cui, Qing Liu, Qingyun Ding, Ming Sheng Liu, Xiao Guang Li, Liying Cui, Xue Zhang
NEK1 was recently identified as an amyotrophic lateral sclerosis (ALS) gene through rare variant burden analysis, and its role in ALS in various populations is still unclear. The aim of this study was to determine the frequency and spectrum of NEK1 mutations in an ALS cohort from mainland China. All exons and their flanking intron regions of NEK1 were screened by direct nucleotide sequencing in 377 unrelated ALS patients. These patients were also screened with a massive parallel sequencing gene panel for 24 known ALS genes and C9orf72 hexanucleotide repeat expansion...
June 28, 2018: Neurobiology of Aging
Diego Bejarano, Rodrigo Martínez, Carlos Manrique, Luis Miguel Parra, Juan Felipe Rocha, Yolanda Gómez, Yesid Abuabara, Jaime Gallego
The linkage disequilibrium (LD) between molecular markers affects the accuracy of genome-wide association studies and genomic selection application. High-density genotyping platforms allow identifying the genotype of thousands of single nucleotide polymorphisms (SNPs) distributed throughout the animal genomes, which increases the resolution of LD evaluations. This study evaluated the distribution of minor allele frequencies (MAF) and the level of LD in the Colombian Creole cattle breeds Blanco Orejinegro (BON) and Romosinuano (ROMO) using a medium density SNP panel (BovineSNP50K_v2)...
April 2018: Genetics and Molecular Biology
Yanxia Lu, Hassen Kared, Shu Wen Tan, Etienne Becht, Evan W Newell, Hugo P S Van Bever, Tze Pin Ng, Anis Larbi
Asthma comprises heterogeneous clinical subtypes driven by diverse pathophysiological mechanisms. We characterized the modulation of the inflammatory environment with the phenotype, gene expression, and function of helper CD4 T cells among acutely exacerbated and stable asthma patients. Systemic Th2 immune deviation (IgE and Th2 cytokines) and inflammation (IL-6, CRP) were associated with increased Th17 cells during acute asthma. Th2/Th17 cell differentiation during acute asthma was regulated by the enhanced expression of transcription factors (c-MAF, IRF-4)...
August 7, 2018: Mucosal Immunology
M Acebo García-Guerrero, Pedro Sánchez Gómez, Javier Peña Lasa, Joseba Portu Zapirain, Edorta Elizagárate Zabala, Victoria Gorria Bernal, Natalia Ojeda Del Pozo
OBJECTIVES: Reduced performance in several cognitive domains has been repeatedly related to Hepatitis C Virus (HCV). Nevertheless, there is no consensus about the severity or cognitive profile. Moreover, other possible influential variables are scarcely controlled. The aim of this study is to define the specific cognitive profile in HCV after controlling for confounding variables. METHODS: Forty-two HCV patients were distributed in two groups according to the presence of co-infection with Human Immunodeficiency Virus (HIV); a third group with 22 healthy controls was also included...
August 3, 2018: Revista de Psiquiatrí́a y Salud Mental
Sebastiano Vasta, Rocco Papalia, Erika Albo, Nicola Maffulli, Vincenzo Denaro
Orthopedic sports medicine is a subspecialty of Orthopedics that focuses on managing pathological conditions of the musculoskeletal system arising from sports practice. When dealing with athletes, timing is the most difficult issue to face. Typically, athletes aim to return to play as soon as possible and at the pre-injury level. This means that management should be optimized to combine the need for prompt return to sport and to the biologic healing time of the musculo-skeletal. This poses a great challenge to sport medicine surgeons, who need to follow with attention to the latest scientific evidence to offer their patients the best available treatment options...
July 31, 2018: Journal of Orthopaedic Surgery and Research
Yingjun Zhang, Bin Bai, May Lee, Yuzer Alfiko, Antonius Suwanto, Gen Hua Yue
Oil palm (Elaeis guineensis, Jacq.) is a key tropical oil crop, which provides over one third of the global vegetable oil production, but few genes related to oil yield have been characterized. In this study, a GDSL esterase/lipase gene, which was significantly associated with oil content, was isolated from oil palm and designated as EgGDSL. Its functional characterization was carried out through ectopic expression in Arabidopsis ecotype Col-0. It was shown that expression of EgGDSL in Arabidopsis led to the increased total fatty acid content by 9...
July 30, 2018: Scientific Reports
Chao-Yuan Hsu, Li-Tzu Yeh, Shin-Huei Fu, Ming-Wei Chien, Yu-Wen Liu, Shi-Chuen Miaw, Deh-Ming Chang, Huey-Kang Sytwu
SUMOylation is involved in the development of several inflammatory diseases, but the physiological significance of SUMO-modulated c-Maf in autoimmune diabetes is not completely understood. Here, we report that an age-dependent attenuation of c-Maf SUMOylation in CD4+ T cells is positively correlated with the IL-21-mediated diabetogenesis in NOD mice. Using 2 strains of T cell-specific transgenic NOD mice overexpressing wild-type c-Maf (Tg-WTc) or SUMOylation site-mutated c-Maf (Tg-KRc), we demonstrated that Tg-KRc mice developed diabetes more rapidly than Tg-WTc mice in a CD4+ T cell-autonomous manner...
July 30, 2018: Journal of Clinical Investigation
Nora von Thenen, Erman Ayday, A Ercument Cicek
Motivation: Genomic data-sharing beacons aim to provide a secure, easy to implement, and standardized interface for data sharing by only allowing yes/no queries on the presence of specific alleles in the dataset. Previously deemed secure against re-identification attacks, beacons were shown to be vulnerable despite their stringent policy. Recent studies have demonstrated that it is possible to determine whether the victim is in the dataset, by repeatedly querying the beacon for his/her SNPs...
July 20, 2018: Bioinformatics
Isaac Darko Otchere, Mireia Coscollá, Leonor Sánchez-Busó, Adwoa Asante-Poku, Daniela Brites, Chloe Loiseau, Conor Meehan, Stephen Osei-Wusu, Audrey Forson, Clement Laryea, Abdallah Iddrisu Yahayah, Akosua Baddoo, Gloria Akosua Ansa, Samuel Yaw Aboagye, Prince Asare, Sonia Borrell, Florian Gehre, Patrick Beckert, Thomas A Kohl, Sanoussi N'dira, Christian Beisel, Martin Antonio, Stefan Niemann, Bouke C de Jong, Julian Parkhill, Simon R Harris, Sebastien Gagneux, Dorothy Yeboah-Manu
Mycobacterium africanum (Maf) causes a substantial proportion of human tuberculosis in some countries of West Africa, but little is known on this pathogen. We compared the genomes of 253 Maf clinical isolates from Ghana, including N = 175 Lineage 5 (L5) and N = 78 Lineage 6 (L6). We found that the genomic diversity of L6 was higher than in L5 despite the smaller sample size. Regulatory proteins appeared to evolve neutrally in L5 but under purifying selection in L6. Even though over 90% of the human T cell epitopes were conserved in both lineages, L6 showed a higher ratio of non-synonymous to synonymous single nucleotide variation in these epitopes overall compared to L5...
July 26, 2018: Scientific Reports
Jun Yasuda, Fumiki Katsuoka, Inaho Danjoh, Yosuke Kawai, Kaname Kojima, Masao Nagasaki, Sakae Saito, Yumi Yamaguchi-Kabata, Shu Tadaka, Ikuko N Motoike, Kazuki Kumada, Mika Sakurai-Yageta, Osamu Tanabe, Nobuo Fuse, Gen Tamiya, Koichiro Higasa, Fumihiko Matsuda, Nobufumi Yasuda, Motoki Iwasaki, Makoto Sasaki, Atsushi Shimizu, Kengo Kinoshita, Masayuki Yamamoto
BACKGROUND: Genotype imputation from single-nucleotide polymorphism (SNP) genotype data using a haplotype reference panel consisting of thousands of unrelated individuals from populations of interest can help to identify strongly associated variants in genome-wide association studies. The Tohoku Medical Megabank (TMM) project was established to support the development of precision medicine, together with the whole-genome sequencing of 1070 human genomes from individuals in the Miyagi region (Northeast Japan) and the construction of the 1070 Japanese genome reference panel (1KJPN)...
July 24, 2018: BMC Genomics
Yasser Ibrahim Elkhiat, Ahmed Fathy Abo Seif, Mohamed A Khalil, Sameh Fayek GamalEl Din, Nahla Saad Hassan
INTRODUCTION: Bipolar disorder is an episodic mood disorder that causes unusual shifts in mood and affects the ability to carry out day-to-day tasks. AIM: Evaluation of the sexual function in men and women with bipolar disorder during remission. METHODS: 60 men and women with bipolar disorder and 60 age-matched control subjects were included. A Structured Clinical Interview of Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition was performed to confirm the diagnosis, and Hamilton Depression Rating Scale (HAM-D) to assess the depressive symptoms and Young Mania Rating Scale (YMRS) to assess the manic symptoms...
August 2018: Journal of Sexual Medicine
Marcin M Gorski, Hugoline G de Haan, Ilaria Mancini, Luca A Lotta, Paolo Bucciarelli, Serena M Passamonti, Andrea Cairo, Emanuela Pappalardo, Astrid van Hylckama Vlieg, Ida Martinelli, Frits R Rosendaal, Flora Peyvandi
BACKGROUND: Cerebral vein thrombosis (CVT) is a rare, life-threatening disease affecting one adult per 100,000 per year. Genetic risk factors are deficiencies of the natural anticoagulant proteins antithrombin, protein C, protein S or single nucleotide polymorphisms such as factor V Leiden and prothrombin 20210A. In 20% of patients, the cause of CVT remains unknown. AIM: To identify novel genetic risk factors for CVT using targeted next-generation DNA sequencing (NGS)...
June 15, 2018: Thrombosis Research
Rabeb M Ghali, Sana Mahjoub, Sonia Zaied, Hanen Bhiri, Wael Bahia, Touhami Mahjoub, Wassim Y Almawi
Insofar as altered NF-κB signaling stemming from the presence of specific genetic variants in NF-κB gene contribute to cancer pathogenesis, this study evaluated the association between NF-κB rs147574894/I552V, rs148626207/M860T rs3774937 and rs1598859 variants and breast cancer and associated features and complications. This was a retrospective case-control study, which involved 207 women with breast cancer, and 214 cancer-free women who served as controls. NF-κB genotyping was done by real-time PCR. Significantly higher rs3774937 minor allele frequencies (MAF), and lower rs147574894 MAF were seen among breast cancer patients, thereby imparting disease susceptibility and protective nature to these variants, respectively...
July 19, 2018: Pathology Oncology Research: POR
Núria Martínez-Gil, Neus Roca-Ayats, Anna Monistrol-Mula, Natàlia García-Giralt, Adolfo Díez-Pérez, Xavier Nogués, Leonardo Mellibovsky, Daniel Grinberg, Susana Balcells
Numerous GWAS and candidate gene studies have highlighted the role of the Wnt pathway in bone biology. Our objective has been to study in detail the allelic architecture of three Wnt pathway genes: WNT16, DKK1 and SOST, in the context of osteoporosis. We have resequenced the coding and some regulatory regions of these three genes in two groups with extreme bone mineral density (BMD) (n = ∼50, each) from the BARCOS cohort. No interesting novel variants were identified. Thirteen predicted functional variants have been genotyped in the full cohort (n = 1490), and for ten of them (with MAF > 0...
July 19, 2018: Scientific Reports
Marjukka Pollari, Oscar Brück, Teijo Pellinen, Pauli Vähämurto, Marja-Liisa Karjalainen-Lindsberg, Susanna Mannisto, Olli Kallioniemi, Pirkko-Liisa Kellokumpu-Lehtinen, Satu Mustjoki, Suvi-Katri Leivonen, Sirpa Leppä
Primary testicular lymphoma is a rare and aggressive lymphoid malignancy, most often representing diffuse large B-cell lymphoma histologically. Tumor-associated macrophages and tumor-infiltrating lymphocytes have been associated with survival in diffuse large B-cell lymphoma, but their prognostic impact in primary testicular lymphoma is unknown. Here, we aimed to identify macrophages, their immunophenotypes and association with lymphocytes, and translate the findings into survival of patients with primary testicular lymphoma...
July 19, 2018: Haematologica
Craig S Wilding
Although genetic and genomic tools have greatly furthered our understanding of resistance-associated mutations in molecular target sites of insecticides, the genomic basis of transcriptional regulation of detoxification loci in insect pests and vectors remains relatively unexplored. Recent work using RNAi, reporter assays and comparative genomics are beginning to reveal the molecular architecture of this response, identifying critical transcription factors and their binding sites. Central to this is the insect ortholog of the mammalian transcription factor Nrf2, Cap 'n' Collar isoform-C (CncC) which as a heterodimer with Maf-S regulates the transcription of phase I, II and III detoxification loci in a range of insects, with CncC knockdown or upregulation directly affecting phenotypic resistance...
June 2018: Current Opinion in Insect Science
Andres Keller, Pablo Wagner, Guillermo Izquierdo, Jorge Cabrolier, Nathaly Caicedo, Emilio Wagner, Nicola Maffulli
BACKGROUND: The purpose of this study is to translate, culturally adapt, and validate the VISA-A questionnaire for Chilean Spanish speakers with Achilles tendinopathy (AT), which has been originally developed for English-speaking population. METHODS: According to the guidelines published by Beaton et al., the questionnaire was translated and culturally adapted to Chilean patients in six steps: initial translation, synthesis of the translation, back translation, expert committee review, test of the pre-final version (cohort n = 35), and development of VISA-A-CH...
July 13, 2018: Journal of Orthopaedic Surgery and Research
Ahmet Omma, Duygu Tecer, Orhan Kucuksahin, Sevinc Can Sandikci, Fatih Yildiz, Sukran Erten
Introduction: The aim of the study was to investigate whether there is a relationship between the European League Against Rheumatism (EULAR) outcome measures and quality of life (QoL), fatigue, anxiety and depression in patients with pSS and to define determinants which could affect quality of life. Material and methods: The study included 105 pSS patients and 72 age/sex-matched healthy controls (HCs). Cross-sectional clinical data were collected, including the Hospital Anxiety and Depression Scale (HADS), the Multidimensional Assessment of Fatigue (MAF) scale, the Short Form (SF-36), EULAR Sjögren's syndrome disease activity index (ESSDAI) and EULAR Sjögren's syndrome patient reported index (ESSPRI)...
June 2018: Archives of Medical Science: AMS
Masahiko Fujino
Myeloma is characterized by the neoplastic proliferation of monoclonal plasma cells. A diagnosis of myeloma is based on the criteria proposed by the International Myeloma Working Group and the pathological findings.Myeloma cells are classified into four types: mature, immature, pleomorphic, and plasmablastic. There are three patterns in which myeloma infiltrates bone marrow - nodular, interstitial, and diffuse. Dutcher bodies are highly specific to neoplastic myeloma cells. On immunohistochemical staining, the specificity of CD138 is high for plasma cells...
2018: Journal of Clinical and Experimental Hematopathology: JCEH
Chris Whidden, Frederick Matsen
The subtree prune-and-regraft (SPR) distance metric is a fundamental way of comparing evolutionary trees. It has wide-ranging applications, such as to study lateral genetic transfer, viral recombination, and Markov chain Monte Carlo phylogenetic inference. Although the rooted version of SPR distance can be computed relatively efficiently between rooted trees using fixed-parameter-tractable maximum agreement forest (MAF) algorithms, no MAF formulation is known for the unrooted case. Correspondingly, previous algorithms are unable to compute unrooted SPR distances larger than 7...
February 14, 2018: IEEE/ACM Transactions on Computational Biology and Bioinformatics
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