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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

    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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  2. 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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  3. 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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  4. Content type: Research article

    Foxtail millet (Setaria italica) is a diploid C4 panicoid species. Because of its prominent drought resistance, small genome size, self-pollination, and short life cycle, foxtail millet has become an ideal model ...

    Authors: Yongqiang Wang, Lin Li, Sha Tang, Jianguang Liu, Hanshuang Zhang, Hui Zhi, Guanqing Jia and Xianmin Diao

    Citation: BMC Genetics 2016 17:57

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  5. Content type: Research article

    Trehalose (a-D-glucopyranosyl a-D-glucopyranoside) is a nonreducing disaccharide and is widely distributed in bacteria, fungi, algae, plants and invertebrates. In the study, the identification of trehalose-6-p...

    Authors: Min Mu, Xu-Ke Lu, Jun-Juan Wang, De-Long Wang, Zu-Jun Yin, Shuai Wang, Wei-Li Fan and Wu-Wei Ye

    Citation: BMC Genetics 2016 17:54

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    The Erratum to this article has been published in BMC Genetics 2016 17:101

  6. Content type: Research article

    Dopamine β-hydroxylase (DBH) is a critical enzyme in the biosynthesis of catecholamines. This enzyme’s role in neuroendocrine regulation is well known, but there are some indications that it may also modulate ...

    Authors: Qi Xu, Yadong Song, Ran Liu, Yang Chen, Yang Zhang, Yang Li, Wenming Zhao, Guobin Chang and Guohong Chen

    Citation: BMC Genetics 2016 17:48

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  7. Content type: Research article

    The beak deformity (crossed beaks) was found in some indigenous chickens of China, such as Beijing-You (BJY), Qingyuan Partridge, and Huxu Chickens. Birds with deformed beaks have reduced feed intake and drink...

    Authors: Hao Bai, Yanyan Sun, Jing Zhu, Nian Liu, Dongli Li, Fuguang Xue, Yunlei Li and Jilan Chen

    Citation: BMC Genetics 2016 17:44

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  8. Content type: Research article

    This study was performed to identify the non- synonymous polymorphisms in the myosin heavy chain 1 gene (MYH1) association with skeletal muscle development in economically important Jeju Native Pig (JNP) and Berk...

    Authors: Mrinmoy Ghosh, Simrinder Singh Sodhi, Neelesh Sharma, Raj Kumar Mongre, Nameun Kim, Amit Kumar Singh, Sung Jin Lee, Dae Cheol Kim, Sung Woo Kim, Hak Kyo Lee, Ki-Duk Song and Dong Kee Jeong

    Citation: BMC Genetics 2016 17:35

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  9. Content type: Research article

    The transformer (tra) is a sex determining switch in different orders of insects, including Diptera, as in the family Tephritidae. The lifelong autoregulatory loop of tra female-specific splicing can be reset by ...

    Authors: Kamoltip Laohakieat, Nidchaya Aketarawong, Siriwan Isasawin, Siripong Thitamadee and Sujinda Thanaphum

    Citation: BMC Genetics 2016 17:34

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  10. Content type: Research article

    Despite the emergence of stereotactic body radiotherapy (SBRT) for treatment of medically inoperable early-stage non-small-cell lung cancer patients, the molecular effects of focal exposure of limited lung vol...

    Authors: Bu-Yeo Kim, Hee Jin, Yoon-Jin Lee, Ga-Young Kang, Jaeho Cho and Yun-Sil Lee

    Citation: BMC Genetics 2016 17:29

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  11. Content type: Research article

    Copy number variation (CNV) is an important source of genetic variability associated with phenotypic variation and disease susceptibility. Comprehensive genome-wide CNV maps provide valuable information for ge...

    Authors: Shinji Sasaki, Toshio Watanabe, Shota Nishimura and Yoshikazu Sugimoto

    Citation: BMC Genetics 2016 17:26

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  12. Content type: Research article

    Metagenomics allows us to acquire the potential resources from both cultivatable and uncultivable microorganisms in the environment. Here, shotgun metagenome sequencing was used to investigate microbial commun...

    Authors: Xian Zhang, Jiaojiao Niu, Yili Liang, Xueduan Liu and Huaqun Yin

    Citation: BMC Genetics 2016 17:21

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  13. Content type: Research article

    Microsatellites or simple sequence repeats (SSRs) are DNA sequences consisting of 1–6 bp tandem repeat motifs present in the genome. SSRs are considered to be one of the most powerful tools in genetic studies....

    Authors: Sonali Sachin Ranade, Yao-Cheng Lin, Yves Van de Peer and María Rosario García-Gil

    Citation: BMC Genetics 2015 16:149

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  14. Content type: Research article

    Etl4lacZ (Enhancer trap locus 4) and SktGt (Sickle tail) are lacZ reporter gene integrations into the same locus on mouse chromosome 2 targeting a gene that is expressed in the notochord of early embryos and in m...

    Authors: Katrin Serth, Anja Beckers, Karin Schuster-Gossler, Maria N. Pavlova, Julia Müller, Mariel C. Paul, Richard Reinhardt and Achim Gossler

    Citation: BMC Genetics 2015 16:143

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  15. Content type: Research article

    Adaption to cold temperatures, especially those below freezing, is essential for animal survival in cold environments. Freezing is also used for many medical, scientific, and industrial purposes. Natural freez...

    Authors: Jian-Ping Hu, Xiao-Ying Xu, Li-Ying Huang, Li-shun Wang and Ning-Yuan Fang

    Citation: BMC Genetics 2015 16:139

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  16. Content type: Research article

    Fish are remarkably diverse in repertoires of visual opsins by gene duplications. Differentiation of their spatiotemporal expression patterns and absorption spectra enables fine-tuning of feature detection in ...

    Authors: Taro Tsujimura, Ryoko Masuda, Ryuichi Ashino and Shoji Kawamura

    Citation: BMC Genetics 2015 16:130

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  17. Content type: Research article

    Adipose tissue is recognized as a highly active metabolic and endocrine organ. The hormones secreted by this tissue play an important role in many biochemical processes. It is known that dysfunction of adipocy...

    Authors: Joanna Nowacka-Woszuk, Ewa Pruszynska-Oszmalek, Maciej Szydlowski, Slawomir Sadkowski and Izabela Szczerbal

    Citation: BMC Genetics 2015 16:113

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  18. Content type: Research article

    Sea level sojourners, on ascent to high altitude, undergo acclimatization through integrated physiological processes for defending the body against oxygen deprivation while the high altitude natives (resident ...

    Authors: Arvind Tomar, Seema Malhotra and Soma Sarkar

    Citation: BMC Genetics 2015 16:112

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  19. Content type: Research article

    Accumulation of galactosphingolipids is a general characteristic of Fabry disease, a lysosomal storage disorder caused by the deficient activity of α-galactosidase A encoded by the GLA gene. Although many polymor...

    Authors: Javier Gervas-Arruga, Jorge J. Cebolla, Pilar Irun, Javier Perez-Lopez, Luis Plaza, Jose C. Roche, Jose L. Capablo, Jose C. Rodriguez-Rey, Miguel Pocovi and Pilar Giraldo

    Citation: BMC Genetics 2015 16:109

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  20. Content type: Research article

    Acid soil is a serious limitation to crop production all over the world. Toxic aluminium (Al) cations in acid soil inhibit root growth and reduce yield. Although a gene tolerant to acid soil has been identifie...

    Authors: Miao Bian, Xiaoli Jin, Sue Broughton, Xiao-Qi Zhang, Gaofeng Zhou, Meixue Zhou, Guoping Zhang, Dongfa Sun and Chengdao Li

    Citation: BMC Genetics 2015 16:92

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