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Functional and structural genomics

Section edited by Kun Huang

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

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  1. Circulating tumor cells (CTCs) play a key role in cancer progression, especially metastasis, due to the rarity and heterogeneity of CTCs, fewer researches have been conducted on them at the molecular level. Ho...

    Authors: Yibing Guan, Fangshi Xu, Yiyuan Wang, Juanhua Tian, Ziyan Wan, Zhenlong Wang and Tie Chong

    Citation: BMC Medical Genomics 2020 13:140

    Content type: Research article

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  2. The multiple causes of oligohydramnios make it challenging to study. Long noncoding RNAs (lncRNAs) are sets of RNAs that have been proven to function in multiple biological processes. The purpose of this study...

    Authors: Yu-hua Ou, Yu-kun Liu, Li-qiong Zhu, Man-qi Chen, Xiao-chun Yi, Hui Chen and Jian-ping Zhang

    Citation: BMC Medical Genomics 2020 13:137

    Content type: Research article

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  3. Asthma is a chronic disorder of both adults and children affecting more than 300 million people heath worldwide. Diagnose and treatment for asthma, particularly in childhood asthma have always remained a great...

    Authors: Peiyan Zheng, Chen Huang, Dongliang Leng, Baoqing Sun and Xiaohua Douglas Zhang

    Citation: BMC Medical Genomics 2020 13:136

    Content type: Research article

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  4. Proximal microdeletions on chromosome 15q25.2 are very rare, and are associated with neurodevelopmental delay, inguinal hernia, chest deformities, and anemia. The minimum length missed so far is 1.4 Mb. Howeve...

    Authors: Zhen Chen, Hong Chen, Ke Yuan and Chunlin Wang

    Citation: BMC Medical Genomics 2020 13:126

    Content type: Case report

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  5. Cold acclimation and exercise training were previously shown to increase peripheral insulin sensitivity in human volunteers with type 2 diabetes. Although cold is a potent activator of brown adipose tissue, th...

    Authors: Emmani B. M. Nascimento, Roland W. J. Hangelbroek, Guido J. E. J. Hooiveld, Joris Hoeks, Wouter D. Van Marken Lichtenbelt, Matthijs H. C. Hesselink, Patrick Schrauwen and Sander Kersten

    Citation: BMC Medical Genomics 2020 13:124

    Content type: Research article

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  7. The role of histone modifications is poorly characterized in breast cancer, especially within the major subtypes. While epigenetic modifications may enhance the adaptability of a cell to both therapy and the s...

    Authors: Damien Kaukonen, Riina Kaukonen, Lélia Polit, Bryan T. Hennessy, Riikka Lund and Stephen F. Madden

    Citation: BMC Medical Genomics 2020 13:92

    Content type: Research article

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  8. Pulmonary arterial hypertension (PAH) is a life-threatening condition. The aim of this study was to explore potential crucial genes and pathways associated with PAH based on integrative analyses of gene expres...

    Authors: Jing Luo, Haiyan Li, Zhenwei Liu, Chenlu Li, Ruochen Wang, Jinxia Fang, Saisai Lu, Jing Guo, Xiaochun Zhu and Xiaobing Wang

    Citation: BMC Medical Genomics 2020 13:86

    Content type: Research article

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  9. Oesophageal atresia (OA) is a life-threatening developmental defect characterized by a lost continuity between the upper and lower oesophagus. The most common form is a distal connection between the trachea an...

    Authors: Joakim Klar, Helene Engstrand-Lilja, Khurram Maqbool, Jonas Mattisson, Lars Feuk and Niklas Dahl

    Citation: BMC Medical Genomics 2020 13:85

    Content type: Research article

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  10. Recurrent pregnancy loss (RPL) is a significant adverse pregnancy complication, with an incompletely understood pathology. While many entities were proposed to elucidate the pathogenic basis of RPL, only few w...

    Authors: Wael Bahia, Ismael Soltani, Anouar Abidi, Anis Haddad, Salima Ferchichi, Samia Menif and Wassim Y. Almawi

    Citation: BMC Medical Genomics 2020 13:75

    Content type: Research article

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  11. Thalassemia is a hereditary hemolytic anemia with a severity ranging from mild, non-transfusion dependent to severe chronic anemia requiring lifelong transfusion. Transfusional iron overload is a major complic...

    Authors: Nithita Nanthatanti, Adisak Tantiworawit, Pokpong Piriyakhuntorn, Thanawat Rattanathammethee, Sasinee Hantrakool, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong, Lalita Norasetthada, Wirote Tuntiwechapikul, Kanda Fanhchaksai, Pimlak Charoenkwan, Sirinart Kumfu and Nipon Chattipakorn

    Citation: BMC Medical Genomics 2020 13:73

    Content type: Research article

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  13. High-throughput transcriptomics measures mRNA levels for thousands of genes in a biological sample. Most gene expression studies aim to identify genes that are differentially expressed between different biolog...

    Authors: Apostolos Malatras, Ioannis Michalopoulos, Stéphanie Duguez, Gillian Butler-Browne, Simone Spuler and William J. Duddy

    Citation: BMC Medical Genomics 2020 13:67

    Content type: Database

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  14. Circular RNAs are non-coding RNA molecules with gene regulatory potential that have been associated with several human diseases. They are stable and present in the circulation, making them excellent candidates...

    Authors: Shahnaz Haque, Ryan M. Ames, Karen Moore, Benjamin P. Lee, Nicola Jeffery and Lorna W. Harries

    Citation: BMC Medical Genomics 2020 13:64

    Content type: Research article

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  15. Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions involving the 4q13.3 region are large chromosomal alterations with a common loss of band 4q21 resulting in ...

    Authors: Živilė Maldžienė, Evelina M. Vaitėnienė, Beata Aleksiūnienė, Algirdas Utkus and Eglė Preikšaitienė

    Citation: BMC Medical Genomics 2020 13:63

    Content type: Case report

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  16. Escherichia coli are mostly commensals but also contain pathogenic lineages. It is largely unclear whether the commensal E. coli as the potential origins of pathogenic lineages may consist of monophyletic or poly...

    Authors: Le Tang, Yu-Jie Zhou, Songling Zhu, Gong-Da Liang, He Zhuang, Man-Fei Zhao, Xiao-Yun Chang, Hai-Ning Li, Zheng Liu, Zhi-Rong Guo, Wei-Qiao Liu, Xiaoyan He, Chun-Xiao Wang, Dan-Dan Zhao, Jia-Jing Li, Xiao-Qin Mu…

    Citation: BMC Medical Genomics 2020 13:59

    Content type: Research article

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  17. Copy number variants (CNVs) have been reported to be associated with diseases, traits, and evolution. However, it is hard to determine which gene should have priority as a target for further functional experim...

    Authors: Maria Yamasaki, Takashi Makino, Seik-Soon Khor, Hiromi Toyoda, Taku Miyagawa, Xiaoxi Liu, Hitoshi Kuwabara, Yukiko Kano, Takafumi Shimada, Toshiro Sugiyama, Hisami Nishida, Nagisa Sugaya, Mamoru Tochigi, Takeshi Otowa, Yuji Okazaki, Hisanobu Kaiya…

    Citation: BMC Medical Genomics 2020 13:55

    Content type: Research article

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  18. Autism is a complex disease involving both environmental and genetic factors. Recent efforts have implicated the correlation of genomic imprinting and brain development in autism, however the pathogenesis of a...

    Authors: Jian Li, Xue Lin, Mingya Wang, Yunyun Hu, Kaiyu Xue, Shuanglin Gu, Li Lv, Saijun Huang and Wei Xie

    Citation: BMC Medical Genomics 2020 13:54

    Content type: Research article

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  19. The human papillomaviruses (HPV) are a group of viruses that, depending on the strain, can cause cancer or the formation of benign growths known as warts. Scarce information exists with regard to the genetic n...

    Authors: Laith N. AL-Eitan, Amneh H. Tarkhan, Mansour A. Alghamdi, Firas A. Al-Qarqaz and Hadeel S. Al-Kofahi

    Citation: BMC Medical Genomics 2020 13:35

    Content type: Research article

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  20. Application of whole genome sequencing (WGS) enables identification of non-coding variants that play a phenotype-modifying role and are undetectable by exome sequencing. Recently, non-coding regulatory single ...

    Authors: Justyna A. Karolak, Tomasz Gambin, Engela M. Honey, Tomas Slavik, Edwina Popek and Paweł Stankiewicz

    Citation: BMC Medical Genomics 2020 13:34

    Content type: Case report

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  21. Few somatic mutations have been linked to breast cancer metastasis, whereas transcriptomic differences among primary tumors correlate with incidence of metastasis, especially to the lungs and brain. However, t...

    Authors: Wesley L. Cai, Celeste B. Greer, Jocelyn F. Chen, Anna Arnal-Estapé, Jian Cao, Qin Yan and Don X. Nguyen

    Citation: BMC Medical Genomics 2020 13:33

    Content type: Research article

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  22. Chromosome deletions of the long arm of chromosome 4 in 4q syndrome are characterized by mild facial and digital dysmorphism, developmental delay, growth retardation, and skeletal and cardiac anomalies, which ...

    Authors: Maolan Wu, Xiangrong Zheng, Xia Wang, Guoyuan Zhang and Jian Kuang

    Citation: BMC Medical Genomics 2020 13:31

    Content type: Case report

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  23. Kidney transplantation is the most effective treatment for end-stage renal disease. Allograft rejections severely affect survivals of allograft kidneys and recipients.

    Authors: Mei Meng, Weitao Zhang, Qunye Tang, Baixue Yu, Tingting Li, Ruiming Rong, Tongyu Zhu, Ming Xu and Yi Shi

    Citation: BMC Medical Genomics 2020 13:24

    Content type: Research article

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  24. The survival of INA-6 human multiple myeloma cells is strictly dependent upon the Interleukin-6-activated transcription factor STAT3. Although transcriptional analyses have revealed many genes regulated by STA...

    Authors: Stefanie Binder, Ivonne Zipfel, Maik Friedrich, Diana Riedel, Stefanie Ende, Christoph Kämpf, Karolin Wiedemann, Tilo Buschmann, Sven-Holger Puppel, Kristin Reiche, Peter F. Stadler and Friedemann Horn

    Citation: BMC Medical Genomics 2020 13:22

    Content type: Research article

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  25. Coeliac disease (CD) is a autoimmune disease characterised by mucosal inflammation in the small intestine in response to dietary gluten. Genetic factors play a key role with CD individuals carrying either the ...

    Authors: Nerissa L. Hearn, Christine L. Chiu and Joanne M. Lind

    Citation: BMC Medical Genomics 2020 13:16

    Content type: Research article

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  26. Rhodesiense sleeping sickness is caused by infection with T. b rhodesiense parasites resulting in an acute disease that is fatal if not treated in time. The aim of this study was to understand the global impact o...

    Authors: Julius Mulindwa, Enock Matovu, John Enyaru and Christine Clayton

    Citation: BMC Medical Genomics 2020 13:14

    Content type: Research article

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  27. Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transm...

    Authors: Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau and Pierre-Antoine Faye

    Citation: BMC Medical Genomics 2020 13:12

    Content type: Case report

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  28. Psoriasis is a chronic inflammatory skin disease, for which genome-wide association studies (GWAS) have identified many genetic variants as risk markers. However, the details of underlying molecular mechanisms...

    Authors: Naoto Kubota and Mikita Suyama

    Citation: BMC Medical Genomics 2020 13:8

    Content type: Research article

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  29. Prostate cancer (PCa) has the highest incidence rates of cancers in men in western countries. Unlike several other types of cancer, PCa has few genetic drivers, which has led researchers to look for additional...

    Authors: Ieva Rauluseviciute, Finn Drabløs and Morten Beck Rye

    Citation: BMC Medical Genomics 2020 13:6

    Content type: Research article

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  30. 12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. The opposite syndrome (microduplication) has not yet been character...

    Authors: Sofia Dória, Daniela Alves, Maria João Pinho, Joel Pinto and Miguel Leão

    Citation: BMC Medical Genomics 2020 13:2

    Content type: Case report

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  32. Systemic sclerosis (SSc), a multi-organ disorder, is characterized by vascular abnormalities, dysregulation of the immune system, and fibrosis. The mechanisms underlying tissue pathology in SSc have not been e...

    Authors: Elham Karimizadeh, Ali Sharifi-Zarchi, Hassan Nikaein, Seyedehsaba Salehi, Bahar Salamatian, Naser Elmi, Farhad Gharibdoost and Mahdi Mahmoudi

    Citation: BMC Medical Genomics 2019 12:199

    Content type: Research article

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  33. Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytog...

    Authors: Shaohua Sun, Fang Zhan, Jiusheng Jiang, Xuerui Zhang, Lei Yan, Weiyi Cai, Hailiang Liu and Donghua Cao

    Citation: BMC Medical Genomics 2019 12:197

    Content type: Case report

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  34. Psoriasis is a chronic inflammatory skin disease characterized by hyperproliferation and abnormal differentiation of keratinocytes. It is one of the most prevalent chronic inflammatory skin conditions in adult...

    Authors: Liviu-Ionut Moldovan, Thomas Birkballe Hansen, Morten Trillingsgaard Venø, Trine Line Hauge Okholm, Thomas Levin Andersen, Henrik Hager, Lars Iversen, Jørgen Kjems, Claus Johansen and Lasse Sommer Kristensen

    Citation: BMC Medical Genomics 2019 12:174

    Content type: Research article

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  35. Since 1969, 49 cases have been presented on ring chromosome 4. All of these cases have been characterized for the loss of genetic material. The genes located in these chromosomal regions are related to the phe...

    Authors: César Paz-y-Miño, Ana Proaño, Stella D. Verdezoto, Juan Luis García, Jesús María Hernández-Rivas and Paola E. Leone

    Citation: BMC Medical Genomics 2019 12:167

    Content type: Case report

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  36. Hepatocellular carcinoma (HCC) is the major type of primary liver cancer. Intrahepatic metastasis, such as portal vein tumor thrombosis (PVTT), strongly indicates poor prognosis of HCC. But now, there are limi...

    Authors: Dongfang Wang, Yanjing Zhu, Jing Tang, Qiuyu Lian, Guijuan Luo, Wen Wen, Michael Q. Zhang, Hongyang Wang, Lei Chen and Jin Gu

    Citation: BMC Medical Genomics 2019 12:164

    Content type: Research article

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  37. Genetics play an important role in intracranial aneurysm (IA) pathophysiology. Genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) that are linked to IA but how they ...

    Authors: Kerry E. Poppenberg, Kaiyu Jiang, Michael K. Tso, Kenneth V. Snyder, Adnan H. Siddiqui, John Kolega, James N. Jarvis, Hui Meng and Vincent M. Tutino

    Citation: BMC Medical Genomics 2019 12:149

    Content type: Research article

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  38. Bleomycin, etoposide and cisplatin (BEP) are three chemotherapeutic agents widely used individually or in combination with each other or other chemotherapeutic agents in the treatment of various cancers. These...

    Authors: Prabin Upadhyaya, Alessandra Di Serafino, Luca Sorino, Patrizia Ballerini, Marco Marchisio, Laura Pierdomenico, Liborio Stuppia and Ivana Antonucci

    Citation: BMC Medical Genomics 2019 12:146

    Content type: Research article

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  39. Wild-type (wt) polyglutamine (polyQ) regions are implicated in stabilization of protein-protein interactions (PPI). Pathological polyQ expansion, such as that in human Ataxin-1 (ATXN1), that causes spinocerebe...

    Authors: Sara Rocha, Jorge Vieira, Noé Vázquez, Hugo López-Fernández, Florentino Fdez-Riverola, Miguel Reboiro-Jato, André D. Sousa and Cristina P. Vieira

    Citation: BMC Medical Genomics 2019 12:145

    Content type: Research article

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  40. Healthcare providers increasingly use information about pathogenic variants in cancer predisposition genes, including sequence variants and large rearrangements (LRs), in medical management decisions. While se...

    Authors: Debora Mancini-DiNardo, Thaddeus Judkins, John Kidd, Ryan Bernhisel, Courtney Daniels, Krystal Brown, Kirsten Meek, Jonathan Craft, Jayson Holladay, Brian Morris and Benjamin B. Roa

    Citation: BMC Medical Genomics 2019 12:138

    Content type: Research article

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  41. The mechanisms underlying neurodegeneration in the striatum of Huntingon’s Disease (HD) brain are currently unknown. While the striatum is massively degenerated in symptomatic individuals, which makes cellular...

    Authors: Filisia Agus, Diego Crespo, Richard H. Myers and Adam Labadorf

    Citation: BMC Medical Genomics 2019 12:137

    Content type: Research Article

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  42. Diabetic retinopathy (DR) is the leading cause of blindness in the working age population. Transthyretin (TTR) showed a significantly decreased concentration in DR patients and exerted a visual protective effe...

    Authors: Jun Shao, Yunbin Zhang, Guangming Fan, Yu Xin and Yong Yao

    Citation: BMC Medical Genomics 2019 12:134

    Content type: Research article

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  43. Genome-wide association studies (GWASs) have identified single-nucleotide polymorphisms (SNPs) that may be genetic factors underlying Alzheimer’s disease (AD). However, how these AD-associated SNPs (AD SNPs) c...

    Authors: Masataka Kikuchi, Norikazu Hara, Mai Hasegawa, Akinori Miyashita, Ryozo Kuwano, Takeshi Ikeuchi and Akihiro Nakaya

    Citation: BMC Medical Genomics 2019 12:128

    Content type: Research article

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  44. Burkholderia mallei (Bm) is a facultative intracellular bacterial pathogen causing highly-fatal glanders in solipeds and humans. The ability of Bm to thrive intracellularly is thought to be related to exploitatio...

    Authors: Sophie A. Aschenbroich, Eric R. Lafontaine, Maria Cecilia Lopez, Henry V. Baker and Robert J. Hogan

    Citation: BMC Medical Genomics 2019 12:127

    Content type: Research article

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  45. Identifying molecular biomarkers characteristic of ischemic stroke has the potential to aid in distinguishing stroke cases from stroke mimicking symptoms, as well as advancing the understanding of the physiolo...

    Authors: Konstantinos Theofilatos, Aigli Korfiati, Seferina Mavroudi, Matthew C. Cowperthwaite and Max Shpak

    Citation: BMC Medical Genomics 2019 12:118

    Content type: Research article

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  46. Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints.

    Authors: Kevin Yauy, Anouck Schneider, Bee Ling Ng, Jean-Baptiste Gaillard, Satish Sati, Christine Coubes, Constance Wells, Magali Tournaire, Thomas Guignard, Pauline Bouret, David Geneviève, Jacques Puechberty, Franck Pellestor and Vincent Gatinois

    Citation: BMC Medical Genomics 2019 12:116

    Content type: Case report

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  47. Population studies suggest that genetic factors play an important role in refractive error development; however, the precise role of genetic background and the composition of the signaling pathways underlying ...

    Authors: Tatiana V. Tkatchenko, Rupal L. Shah, Takayuki Nagasaki and Andrei V. Tkatchenko

    Citation: BMC Medical Genomics 2019 12:113

    Content type: Research article

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  48. Synthetic lethal interactions (SLIs) that occur between gene pairs are exploited for cancer therapeutics. Studies in the model eukaryote yeast have identified ~ 550,000 negative genetic interactions that have ...

    Authors: Morgan W. B. Kirzinger, Frederick S. Vizeacoumar, Bjorn Haave, Cristina Gonzalez-Lopez, Keith Bonham, Anthony Kusalik and Franco J. Vizeacoumar

    Citation: BMC Medical Genomics 2019 12:112

    Content type: Research article

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  49. A normally developed placenta is integral to a successful pregnancy. Preeclampsia (PE) and intrauterine growth restriction (IUGR) are two common pregnancy related complications that maybe a result of abnormal ...

    Authors: Zain Awamleh, Gregory B. Gloor and Victor K. M. Han

    Citation: BMC Medical Genomics 2019 12:91

    Content type: Research article

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  50. Gastric emptying is impaired in patients with gastroparesis whereas it is either unchanged or accelerated in obese individuals. The goal of the current study was to identify changes in gene expression in the s...

    Authors: B. Paul Herring, Meng Chen, Plamen Mihaylov, April M. Hoggatt, Anita Gupta, Attila Nakeeb, Jennifer N. Choi and John M. Wo

    Citation: BMC Medical Genomics 2019 12:89

    Content type: Research article

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BMC Medical Genomics

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