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Functional genetics

Section edited by Federico Canzian

This section incorporates all aspects of the functional analysis of genes and genomes including but not limited to: sequence analysis and genotyping approaches to finding functional variation in genes and gene families, experimental studies of gene function, transcriptional regulation and gene expression.

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  1. Content type: Research article

    Arabian horses are believed to be one of the oldest and most influential horse breeds in the world. Blood is the main tissue involved in maintaining body homeostasis, and it is considered a marker of the proce...

    Authors: Katarzyna Ropka-Molik, Monika Stefaniuk-Szmukier, Kacper Żukowski, Katarzyna Piórkowska, Artur Gurgul and Monika Bugno-Poniewierska

    Citation: BMC Genetics 2017 18:31

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  2. Content type: Research article

    Avian pathogenic E. coli (APEC) can lead to a loss in millions of dollars in poultry annually because of mortality and produce contamination. Studies have verified that many immune-related genes undergo changes i...

    Authors: Hongyan Sun

    Citation: BMC Genetics 2017 18:21

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  3. Content type: Research article

    Trichoderma spp. can establish beneficial interactions with plants by promoting plant growth and defense systems, as well as, antagonizing fungal phytopathogens in mycoparasitic intera...

    Authors: Paulina Guzmán-Guzmán, Mario Iván Alemán-Duarte, Luis Delaye, Alfredo Herrera-Estrella and Vianey Olmedo-Monfil

    Citation: BMC Genetics 2017 18:16

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  4. Content type: Methodology article

    Color perception is important for fish to survive and reproduce in nature. Visual pigments in the retinal photoreceptor cells are responsible for receiving light stimuli, but the function of the pigments in vi...

    Authors: Noriko Homma, Yumi Harada, Tamaki Uchikawa, Yasuhiro Kamei and Shoji Fukamachi

    Citation: BMC Genetics 2017 18:10

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  5. Content type: Research article

    Hyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These ...

    Authors: Zahraa Haidar, Ramzi Temanni, Eliane Chouery, Puthen Jithesh, Wei Liu, Rashid Al-Ali, Ena Wang, Francesco M Marincola, Nadine Jalkh, Soha Haddad, Wassim Haidar, Lotfi Chouchane and André Mégarbané

    Citation: BMC Genetics 2017 18:3

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    The Erratum to this article has been published in BMC Genetics 2017 18:9

  6. Content type: Research article

    South African (SA) Black women have a high prevalence of preeclampsia and HIV, both conditions associated with increased inflammation. miR-146a is an inflammatory-associated miR and a common single nucleotide ...

    Authors: Niren Ray Maharaj, Prithiksha Ramkaran, Siddharthiya Pillay and Anil Amichund Chuturgoon

    Citation: BMC Genetics 2017 18:5

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  7. Content type: Research article

    Epidermal growth factor receptor (Egfr) has been the target of several drugs for cancers. The potential gender differences in genes in the Egfr axis have been suggested in humans and in animal models. Female and ...

    Authors: Fengxia Liu, Yan Jiao, Yun Jiao, Franklin Garcia-Godoy, Weikuan Gu and Qingyi Liu

    Citation: BMC Genetics 2016 17:146

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  8. Content type: Research article

    Accumulation of DNA damage, mutations, and chromosomal abnormalities is associated with aging in many organisms. How directly various forms of genomic instability contribute to lifespan in different aging cont...

    Authors: Patrick H. Maxwell

    Citation: BMC Genetics 2016 17:140

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  9. Content type: Research article

    Breast cancer is the most common cause of cancer death among women. Several studies have investigated the relationship between the C3435T polymorphism of ABCB1 gene and risk of breast cancer; but the results a...

    Authors: Amal Tazzite, Yaya Kassogue, Bréhima Diakité, Hassan Jouhadi, Hind Dehbi, Abdellatif Benider and Sellama Nadifi

    Citation: BMC Genetics 2016 17:126

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  10. Content type: Research article

    Cerebellar cortical degeneration (CCD) is an increasingly recognised neurodegenerative disease process affecting many dog breeds. Typical presentation consists of a progressive cerebellar ataxia, with a variab...

    Authors: Joe Fenn, Mike Boursnell, Rebekkah J. Hitti, Christopher A. Jenkins, Rebecca L. Terry, Simon L. Priestnall, Patrick J. Kenny, Cathryn S. Mellersh and Oliver P. Forman

    Citation: BMC Genetics 2016 17:123

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  11. Content type: Research article

    A previous genome-wide association study deduced that one (ARS-BFGL-NGS-39328), two (Hapmap26001-BTC-038813 and Hapmap31284-BTC-039204), two (Hapmap26001-BTC-038813 and BTB-00246150), and one (Hapmap50366-BTA-...

    Authors: Cong Li, Dongxiao Sun, Shengli Zhang, Shaohua Yang, M. A. Alim, Qin Zhang, Yanhua Li and Lin Liu

    Citation: BMC Genetics 2016 17:110

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  12. Content type: Research article

    MicroRNAs (miRNAs) are a novel class of endogenous, non-coding, single-stranded RNAs capable of regulating gene expression by suppressing translation or degrading mRNAs. Single nucleotide polymorphisms (SNP) c...

    Authors: Sebastián Morales, Felipe Gulppi, Patricio Gonzalez-Hormazabal, Ricardo Fernandez-Ramires, Teresa Bravo, José Miguel Reyes, Fernando Gomez, Enrique Waugh and Lilian Jara

    Citation: BMC Genetics 2016 17:109

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  13. Content type: Research article

    Canine atopic dermatitis (CAD) is a chronic inflammatory skin disease triggered by allergic reactions involving IgE antibodies directed towards environmental allergens. We previously identified a ~1.5 Mb locus...

    Authors: Katarina Tengvall, Sergey Kozyrev, Marcin Kierczak, Kerstin Bergvall, Fabiana H. G. Farias, Brita Ardesjö-Lundgren, Mia Olsson, Eva Murén, Ragnvi Hagman, Tosso Leeb, Gerli Pielberg, Åke Hedhammar, Göran Andersson and Kerstin Lindblad-Toh

    Citation: BMC Genetics 2016 17:97

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  14. Content type: Research article

    Previous research has demonstrated that ectopic expression of Ran-binding protein (RanBP) in Arabidopsis results in more axillary buds and reduced apical dominance compared to WT plants. However, the function of

    Authors: Shaofeng Li, Qinjun Huang, Bingyu Zhang, Jianhui Zhang, Xue Liu, Mengzhu Lu, Zanmin Hu, Changjun Ding and Xiaohua Su

    Citation: BMC Genetics 2016 17:96

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  15. Content type: Research article

    Pulmonary arterial hypertension (PAH) is a rare vascular disorder characterized by a capillary wedge pressure ≤ 15 mmHg and a mean pulmonary arterial pressure ≥ 25 mmHg at rest. PAH can be idiopathic, heritabl...

    Authors: Guillermo Pousada, Adolfo Baloira, Diego Fontán, Marta Núñez and Diana Valverde

    Citation: BMC Genetics 2016 17:72

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  16. Content type: Research article

    In humans, muscle-specific nicotinergic acetylcholine receptor (AChR) is a transmembrane protein with five different subunits, coded by CHRNA1, CHRNB, CHRND and CHRNG/CHRNE. The gamma subunit of AChR encoded by C...

    Authors: Ariana Kariminejad, Navid Almadani, Atefeh Khoshaeen, Bjorn Olsson, Ali-Reza Moslemi and Homa Tajsharghi

    Citation: BMC Genetics 2016 17:71

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  17. Content type: Research article

    Multiple sclerosis is a chronic inflammatory, demyelinating disease of the central nervous system. Recent genome-wide studies have revealed more than 110 single nucleotide polymorphisms as associated with susc...

    Authors: Pankaj K. Keshari, Hanne F. Harbo, Kjell-Morten Myhr, Jan H. Aarseth, Steffan D. Bos and Tone Berge

    Citation: BMC Genetics 2016 17:59

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