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Functional and epigenetics

This section considers studies of the expression and regulation of genes by genetic and epigenetic mechanisms, in relation to human health and disease.

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  1. Content type: Research article

    Obesity is a well-recognized risk factor for insulin resistance and type 2 diabetes (T2D), although the precise mechanisms underlying the relationship remain unknown. In this study we identified alterations of...

    Authors: Francisco Barajas-Olmos, Federico Centeno-Cruz, Carlos Zerrweck, Iván Imaz-Rosshandler, Angélica Martínez-Hernández, Emilio J. Cordova, Claudia Rangel-Escareño, Faustino Gálvez, Armando Castillo, Hernán Maydón, Francisco Campos, Diana Gabriela Maldonado-Pintado and Lorena Orozco

    Citation: BMC Medical Genetics 2018 19:28

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  2. Content type: Research article

    Hypoxia Inducible Factor 3 Alpha Subunit (HIF3A) DNA has been demonstrated to be associated with obesity in the methylation level, and it also has a Body Mass Index (BMI)-independent a...

    Authors: Shuo Wang, Jieyun Song, Yide Yang, Yining Zhang, Nitesh V. Chawla, Jun Ma and Haijun Wang

    Citation: BMC Medical Genetics 2017 18:80

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  3. Content type: Research article

    Pituitary adenoma (PA) is a benign brain tumor that can cause neurological, endocrinological and ophthalmological aberrations. Till now there is a need to identify factors that can influence the tumor invasive...

    Authors: Indre Valiulyte, Giedrius Steponaitis, Daina Skiriute, Arimantas Tamasauskas and Paulina Vaitkiene

    Citation: BMC Medical Genetics 2017 18:72

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  4. Content type: Research article

    Childhood trauma is associated with increased vulnerability to mental and somatic disorders later in life. Epigenetic modifications such as DNA methylation are one potential mechanism through which such long-l...

    Authors: Zoya Marinova, Andreas Maercker, Andreas Küffer, Mark D. Robinson, Tomasz K. Wojdacz, Susanne Walitza, Edna Grünblatt and Andrea Burri

    Citation: BMC Medical Genetics 2017 18:21

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  5. Content type: Research article

    Genetic studies to date have not provided satisfactory evidence regarding risk polymorphisms for cardiovascular disease (CVD). Conversely, epigenetic mechanisms, including DNA methylation, seem to influence th...

    Authors: Ramon Bossardi Ramos, Vitor Fabris, Sheila Bunecker Lecke, Maria Augusta Maturana and Poli Mara Spritzer

    Citation: BMC Medical Genetics 2016 17:71

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  6. Content type: Research article

    Transient neonatal diabetes mellitus 1 (TNDM1) is a rare imprinting disorder characterized by intrautering growth retardation and diabetes mellitus usually presenting within the first six weeks of life and res...

    Authors: Mads Bak, Susanne E. Boonen, Christina Dahl, Johanne M. D. Hahnemann, Deborah J. D. G. Mackay, Zeynep Tümer, Karen Grønskov, I. Karen Temple, Per Guldberg and Niels Tommerup

    Citation: BMC Medical Genetics 2016 17:29

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  7. Content type: Research article

    Maternal perception of reduced fetal movements (RFM) is associated with increased risk of fetal growth restriction (FGR) and stillbirth, mediated by placental insufficiency. The maternally expressed imprinted ...

    Authors: Anna Bugge Janssen, Simon J. Tunster, Alexander E. P. Heazell and Rosalind M. John

    Citation: BMC Medical Genetics 2016 17:17

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  8. Content type: Research article

    miRNAs control important cellular functions including angiogenesis/angiostasis or fibrosis and reveal altered expression during pathological processes in the lung.

    Authors: Justyna Kiszałkiewicz, Wojciech J. Piotrowski, Dorota Pastuszak-Lewandoska, Paweł Górski, Adam Antczak, Witold Górski, Daria Domańska-Senderowska, Monika Migdalska-Sęk, Karolina H. Czarnecka, Ewa Nawrot and Ewa Brzeziańska-Lasota

    Citation: BMC Medical Genetics 2016 17:2

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  9. Content type: Research article

    Regular aspirin use reduces colon adenoma and carcinoma incidence. UDP-glucuronosyltransferases (UGT) are involved in aspirin metabolism and clearance, and variant alleles in UGT1A6 have been shown to alter salic...

    Authors: Sushma S Thomas, Karen W Makar, Lin Li, Yingye Zheng, Peiying Yang, Lisa Levy, Rebecca Yvonne Rudolph, Paul D Lampe, Min Yan, Sanford D Markowitz, Jeannette Bigler, Johanna W Lampe and John D Potter

    Citation: BMC Medical Genetics 2015 16:18

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  10. Content type: Research article

    Offspring of pregnancy complicated with gestational diabetes (GDM) are at high risk for metabolic diseases. The mechanisms behind the association of intrauterine exposure to GDM and high risk of health problem...

    Authors: Danqing Chen, Aiping Zhang, Min Fang, Rong Fang, Jiamei Ge, Yuan Jiang, Hong Zhang, Cong Han, Xiaoqun Ye, Hefeng Huang, Yun Liu and Minyue Dong

    Citation: BMC Medical Genetics 2014 15:108

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  11. Content type: Research article

    Numerous studies have shown sex differences in the onset and severity of hypertension. Despite these sex-differences the majority of animal studies are carried out in males. This study investigated expression ...

    Authors: Christine L Chiu, Kristy L Jackson, Nerissa L Hearn, Nicole Steiner, Geoffrey A Head and Joanne M Lind

    Citation: BMC Medical Genetics 2014 15:101

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  12. Content type: Research article

    Mutations in the SQSTM1/p62 gene have been reported in Paget’s disease of bone (PDB), but they are not sufficient to induce the pagetic osteoclast (OC) phenotype. We hypothesized that specific RNA isoforms of OC-...

    Authors: Roscoe Klinck, Gino Laberge, Martine Bisson, Stephen McManus, Laëtitia Michou, Jacques P Brown and Sophie Roux

    Citation: BMC Medical Genetics 2014 15:98

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  13. Content type: Research article

    To uncover the genes involved in the development of osteosarcoma (OS), we performed a meta-analysis of OS microarray data to identify differentially expressed genes (DEGs) and biological functions associated w...

    Authors: Zuozhang Yang, Yongbin Chen, Yu Fu, Yihao Yang, Ya Zhang, Yanjin Chen and Dongqi Li

    Citation: BMC Medical Genetics 2014 15:80

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  14. Content type: Technical advance

    Drug metabolism via the cytochrome P450 (CYP450) system has emerged as an important determinant in the occurrence of several drug interactions (adverse drug reactions, reduced pharmacological effect, drug toxi...

    Authors: Giulia Berno, Mauro Zaccarelli, Caterina Gori, Massimo Tempestilli, Andrea Antinori, Carlo Federico Perno, Leopoldo Paolo Pucillo and Roberta D’Arrigo

    Citation: BMC Medical Genetics 2014 15:76

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  15. Content type: Research article

    There is a substantial genetic component for birthweight variation, and although there are known associations between fetal genotype and birthweight, the role of common epigenetic variation in influencing the ...

    Authors: Rinki Murphy, John MD Thompson, Jörg Tost and Edwin A Mitchell

    Citation: BMC Medical Genetics 2014 15:67

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  16. Content type: Research article

    The majority of Osteogenesis Imperfecta (OI) cases are caused by mutations in one of the two genes, COL1A1 and COL1A2 encoding for the two chains that trimerize to form the procollagen 1 molecule. However, altera...

    Authors: Carla M Kaneto, Patrícia SP Lima, Dalila L Zanette, Karen L Prata, João M Pina Neto, Francisco JA de Paula and Wilson A Silva Jr

    Citation: BMC Medical Genetics 2014 15:45

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  17. Content type: Research article

    To identify transcription factors (TFs) and single nucleotide polymorphisms (SNPs) of Lrh1 (also named Nr5a2) and its homologous genes in Lrh1-knockout pancreas of mice.

    Authors: Maochun Tang, Li Cheng, Rongrong Jia, Lei Qiu, Hua Liu, Shu Zhou, Xiuying Ma, Guoyong Hu, Xingpeng Wang and Yan Zhao

    Citation: BMC Medical Genetics 2014 15:43

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  18. Content type: Research article

    Widespread abnormalities in white matter development are frequently reported in cases of autism spectrum disorders (ASD) and could be involved in the disconnectivity suggested in these disorders. Homozygous mu...

    Authors: Isabelle Scheid, Anna Maruani, Guillaume Huguet, Claire S Leblond, Gudrun Nygren, Henrik Anckarsäter, Anita Beggiato, Maria Rastam, Fréderique Amsellem, I Carina Gillberg, Monique Elmaleh, Marion Leboyer, Christopher Gillberg, Catalina Betancur, Mary Coleman, Hiroko Hama…

    Citation: BMC Medical Genetics 2013 14:124

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  19. Content type: Research article

    Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include ...

    Authors: Sanne M Petersen, Mette Dandanell, Lene J Rasmussen, Anne-Marie Gerdes, Lotte N Krogh, Inge Bernstein, Henrik Okkels, Friedrik Wikman, Finn C Nielsen and Thomas v O Hansen

    Citation: BMC Medical Genetics 2013 14:103

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  20. Content type: Research article

    DNA methylation at specific CpG sites within gene promoter regions is known to regulate transcriptional activity in vitro. In human adipose tissue, basal transcription of the aromatase (CYP19A1) gene is driven pr...

    Authors: Joshua R Lewis, Tegan J McNab, Lawrence J Liew, Jeremy Tan, Phillip Hudson, Jenny Z Wang and Richard L Prince

    Citation: BMC Medical Genetics 2013 14:87

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