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Functional and structural genomics

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. Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy. This condition is caused by a mutation of OCRL gene (located at ...

    Authors: Yu Zhang, Linxia Deng, Xiaohong Chen, Yingjie Hu, Yaxian Chen, Kang Chen and Jianhua Zhou

    Citation: BMC Medical Genomics 2021 14:219

    Content type: Case report

    Published on:

  2. Cardiovascular disease had a global prevalence of 523 million cases and 18.6 million deaths in 2019. The current standard for diagnosing coronary artery disease (CAD) is coronary angiography. Surprisingly, des...

    Authors: Timothy A. McCaffrey, Ian Toma, Zhaoquing Yang, Richard Katz, Jonathan Reiner, Ramesh Mazhari, Palak Shah, Michael Tackett, Dan Jones, Tisha Jepson, Zachary Falk, Richard Wargodsky, Dmitry Shtakalo, Denis Antonets, Justin Ertle, Ju H. Kim…

    Citation: BMC Medical Genomics 2021 14:216

    Content type: Research article

    Published on:

  3. A case of isolated growth hormone deficiency type IA (IGHD IA) caused by novel compound heterozygous mutation in the GH1 gene was reported in this study, which aimed to provide insights that will benefit future d...

    Authors: Xi Yang, Mingming Yuan, Zhuoguang Li, Yanqin Ying, Ling Hou and Xiaoping Luo

    Citation: BMC Medical Genomics 2021 14:210

    Content type: Case report

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  4. Crohn’s disease (CD) is a heritable chronic inflammatory disorder. Non-coding RNAs (ncRNAs) play an important role in epigenetic regulation by affecting gene expression, but can also directly affect protein fu...

    Authors: Ranjit Pelia, Suresh Venkateswaran, Jason D. Matthews, Yael Haberman, David J. Cutler, Jeffrey S. Hyams, Lee A. Denson and Subra Kugathasan

    Citation: BMC Medical Genomics 2021 14:194

    Content type: Research article

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  5. T-cell acute lymphoblastic leukemia is a subtype of acute lymphoblastic leukemia, one of the most common childhood neoplasms. Hypodiploidy is a chromosome abnormality with fewer than 45 chromosomes and is asso...

    Authors: Martyna Stefaniak, Gabriela Ręka, Joanna Zawitkowska and Monika Lejman

    Citation: BMC Medical Genomics 2021 14:178

    Content type: Case report

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  6. Huntingtin (Htt) protein is the product of the gene mutated in Huntington’s disease (HD), a fatal, autosomal dominant, neurodegenerative disorder. Normal Htt is essential for early embryogenesis and the develo...

    Authors: Johanna Bensalel, Hongyuan Xu, Michael L. Lu, Enrico Capobianco and Jianning Wei

    Citation: BMC Medical Genomics 2021 14:176

    Content type: Research article

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  7. Single cell sequencing of human heart tissue is technically challenging and methods to cryopreserve heart tissue for obtaining single cell information have not been standardized. Studies published to date have...

    Authors: Amy Larson and Michael T. Chin

    Citation: BMC Medical Genomics 2021 14:161

    Content type: Technical advance

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  8. Recent scientific research has enabled the identification of macrophages related-genes (MaRG), which play a key role in the control of the immune microenvironment in many human cancers. However, the functional...

    Authors: Yingxiang Chen, Cui Zhang, Xiang Zou, Miao Yu, Bo Yang, Chen-Feng Ji, Shi-Yong Gao, Jun Li and Bin Liu

    Citation: BMC Medical Genomics 2021 14:159

    Content type: Research article

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  9. Type 2 diabetes mellitus (T2DM) is mainly affected by genetic and environmental factors; however, the correlation of long noncoding RNAs (lncRNAs) with T2DM remains largely unknown.

    Authors: Hui Jiang, Peian Lou, Xiaoluo Chen, Chenguang Wu and Shihe Shao

    Citation: BMC Medical Genomics 2021 14:149

    Content type: Research article

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  11. Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ − 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 re...

    Authors: Izabela Winkler, Paweł Miotła, Monika Lejman, Aleksandra Pietrzyk, Magdalena Kacprzak, Marcin Kubiak, Agnieszka Sobczyńska-Tomaszewska, Maciej Skrzypczak and Ilona Jaszczuk

    Citation: BMC Medical Genomics 2021 14:131

    Content type: Research article

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  12. Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. Many BBS disease-causing genetic variants have been identified due to the advancement of molecular diagnostic tools. We report on ...

    Authors: Julia Suárez-González, Verónica Seidel, Cristina Andrés-Zayas, Elvira Izquierdo and Ismael Buño

    Citation: BMC Medical Genomics 2021 14:91

    Content type: Case report

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  13. Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the APC gene. To date, multiple pathogenic variants in coding regions, splice sites, and deep intronic regions have been revealed....

    Authors: Worrawit Wanitsuwan, Sukanya Vijasika, Pichai Jirarattanasopa and Sukanya Horpaopan

    Citation: BMC Medical Genomics 2021 14:87

    Content type: Research article

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  14. To strengthen the understanding of Hereditary Spherocytosis (HS) and determine the disease-causing mutation present with neonatal jaundice. HS is a hemolytic condition resulting from various erythrocyte membra...

    Authors: Lichun Xie, Zhihao Xing, Changgang Li, Si-xi Liu and Fei-qiu Wen

    Citation: BMC Medical Genomics 2021 14:77

    Content type: Case report

    Published on:

  16. Major depressive disorder (MDD) is a leading psychiatric disorder that involves complex abnormal biological functions and neural networks. This study aimed to compare the changes in the network connectivity of...

    Authors: Ruijie Geng and Xiao Huang

    Citation: BMC Medical Genomics 2021 14:55

    Content type: Research article

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  17. Cleft lip with or without cleft palate (CL/P) is the most common craniofacial anomaly with a high incidence of live births. The specific pathogenesis of CL/P is still unclear, although plenty of studies have b...

    Authors: Tianhui Xu, Mengmeng Du, Xinhua Bu, Donglan Yuan, Zhiping Gu, Pei Yu, Xuefang Li, Jiao Chen and Chunyan Jin

    Citation: BMC Medical Genomics 2021 14:53

    Content type: Case report

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  18. Graves’ disease(GD) has a tendency for familial aggregation, but it is uncommon to occur in more than two generations. However, little is known about susceptibility genes for GD in the three-generation family.

    Authors: Zhuoqing Hu, Wei Li, Miaosheng Li, Hao Wei, Zhihui Hu, Yanting Chen, Ai Luo and Wangen Li

    Citation: BMC Medical Genomics 2021 14:46

    Content type: Research article

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  19. Treatment options for hepatocellular carcinoma (HCC) are limited, and overall survival is poor. Despite the high frequency of this malignoma, its basic disease mechanisms are poorly understood. Therefore, the ...

    Authors: Tatiana Meier, Max Timm, Matteo Montani and Ludwig Wilkens

    Citation: BMC Medical Genomics 2021 14:41

    Content type: Research article

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  20. Degeneration of intervertebral disc is a major cause of lower back pain and neck pain. Studies have tried to unveil the regulatory network using either transcriptomic or proteomic analysis. However, neither ha...

    Authors: Chen Xu, Shengchang Luo, Leixin Wei, Huiqiao Wu, Wei Gu, Wenchao Zhou, Baifeng Sun, Bo Hu, Hongyu Zhou, Yang Liu, Huajiang Chen, Xiaojian Ye and Wen Yuan

    Citation: BMC Medical Genomics 2021 14:40

    Content type: Research article

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  21. Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss. Here, we investigate...

    Authors: Hossein Fahimi, Samira Behroozi, Sadaf Noavar and Farshid Parvini

    Citation: BMC Medical Genomics 2021 14:37

    Content type: Research article

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  23. Hirschsprung disease (HSCR) is a hereditary defect, which is characterized by the absence of enteric ganglia and is frequently concurrent with Hirschsprung-associated enterocolitis (HAEC). However, the pathoge...

    Authors: Hong Zhang, Jing-Lu Zhao, Yi Zheng, Xiao-Li Xie, Li-Hua Huang, Le Li, Yun Zhu, Li-Feng Lu, Tu-Qun Hu, Wei Zhong and Qiu-Ming He

    Citation: BMC Medical Genomics 2021 14:21

    Content type: Research article

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  24. Internalizing mental disorders (IMDs) (depression, anxiety and post-traumatic stress disorder) have been associated with accelerated telomere length (TL) attrition; however, this association has not been inves...

    Authors: Allan Kalungi, Eugene Kinyanda, Jacqueline S. Womersley, Moses L. Joloba, Wilber Ssembajjwe, Rebecca N. Nsubuga, Pontiano Kaleebu, Jonathan Levin, Martin Kidd, Soraya Seedat and Sian M. J. Hemmings

    Citation: BMC Medical Genomics 2021 14:15

    Content type: Research article

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  25. Congenital heart disease (CHD) is resulted from the interaction of genetic aberration and environmental factors. Imprinted genes, which are regulated by epigenetic modifications, are essential for the normal e...

    Authors: Shaoyan Chang, Yubo Wang, Yu Xin, Shuangxing Wang, Yi Luo, Li Wang, Hui Zhang and Jia Li

    Citation: BMC Medical Genomics 2021 14:4

    Content type: Research article

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  27. Host genetic factors such as single nucleotide variations may play a crucial role in the onset and progression of HBV-related acute-on-chronic liver failure (ACLF). However, the underlying genomic copy number ...

    Authors: Fengming Sun, Wenting Tan, Yunjie Dan, Xiuhua Wang, Yanzhi Guo and Guohong Deng

    Citation: BMC Medical Genomics 2020 13:180

    Content type: Research article

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  28. Osteogenesis imperfecta (OI) is a rare genetic disorder in which the patients suffer from numerous fractures, skeletal deformities and bluish sclera. The disorder ranges from a mild form to severe and lethal c...

    Authors: Lidiia Zhytnik, Katre Maasalu, Ene Reimann, Aare Märtson and Sulev Kõks

    Citation: BMC Medical Genomics 2020 13:177

    Content type: Research article

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  29. Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly...

    Authors: Anna Zlotina, Olesia Melnik, Yulia Fomicheva, Rostislav Skitchenko, Alexey Sergushichev, Elena Shagimardanova, Oleg Gusev, Guzel Gazizova, Tatiana Loevets, Tatiana Vershinina, Ivan Kozyrev, Mikhail Gordeev, Elena Vasichkina, Tatiana Pervunina and Anna Kostareva

    Citation: BMC Medical Genomics 2020 13:175

    Content type: Case report

    Published on:

  30. Among all causes of death, cancer is the most prevalent and is only outpaced by cardiovascular diseases. Molecular theory of carcinogenesis states that apoptosis and proliferation are regulated by groups of tu...

    Authors: Damian Kołat, Żaneta Kałuzińska, Magdalena Orzechowska, Andrzej K. Bednarek and Elżbieta Płuciennik

    Citation: BMC Medical Genomics 2020 13:174

    Content type: Research article

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  31. Systematic cancer screening has led to the increased detection of pre-malignant lesions (PMLs). The absence of reliable prognostic markers has led mostly to over treatment resulting in potentially unnecessary ...

    Authors: Daniela Nachmanson, Joseph Steward, Huazhen Yao, Adam Officer, Eliza Jeong, Thomas J. O’Keefe, Farnaz Hasteh, Kristen Jepsen, Gillian L. Hirst, Laura J. Esserman, Alexander D. Borowsky and Olivier Harismendy

    Citation: BMC Medical Genomics 2020 13:173

    Content type: Technical advance

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  33. Heart failure is a leading cause of human morbidity and mortality. Circular RNAs (circRNAs) are a newly discovered class of RNA that have been found to have important physiological and pathological roles. In t...

    Authors: Kunzhe Dong, Xiangqin He, Huabo Su, David J. R. Fulton and Jiliang Zhou

    Citation: BMC Medical Genomics 2020 13:167

    Content type: Research article

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  34. The goal of our study is to investigate whether the methylation levels of AHCY and CBS promoters are related to the risk of cerebral infarction by detecting the methylation level of AHCY and CBS genes.

    Authors: Xiaodong Li, Shufang Bu, Ran Ran Pan, Cong Zhou, Kun Qu, Xiuru Ying, Jie Zhong, Jianhao Xiao, Qian Yuan, Simiao Zhang, Laura Tipton, Yunliang Wang, Youping Deng and Shiwei Duan

    Citation: BMC Medical Genomics 2020 13:163

    Content type: Research article

    Published on:

  35. A variety of DNA-based methods have been applied to identify genetic markers of attention deficit hyperactivity disorder (ADHD), but the connection to RNA-based gene expression has not been fully exploited.

    Authors: Timothy A. McCaffrey, Georges St. Laurent III, Dmitry Shtokalo, Denis Antonets, Yuri Vyatkin, Daniel Jones, Eleanor Battison and Joel T. Nigg

    Citation: BMC Medical Genomics 2020 13:160

    Content type: Research article

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  36. Premature ovarian failure (POF) is a highly heterogeneous disorder that occurs in 1% of women of reproductive age. Very few causative genes and variants contributing to POF have been detected, and the disease ...

    Authors: Haengun Jin, JuWon Ahn, YoungJoon Park, JeongMin Sim, Han Sung Park, Chang Soo Ryu, Nam Keun Kim and KyuBum Kwack

    Citation: BMC Medical Genomics 2020 13:159

    Content type: Research article

    Published on:

  37. Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display c...

    Authors: Shan Li, Ke-wang Xi, Ting Liu, Ying Zhang, Meng Zhang, Li-dong Zeng and Juan Li

    Citation: BMC Medical Genomics 2020 13:146

    Content type: Case report

    Published on:

  39. Angiogenesis is an important parameter in the development of diabetic retinopathy (DR), and it is indicative of an early stage evolving into a late phase. Therefore, examining the role of angiogenic factors in...

    Authors: Chufeng Gu, Thashi Lhamo, Chen Zou, Chuandi Zhou, Tong Su, Deji Draga, Dawei Luo, Zhi Zheng, Lili Yin and Qinghua Qiu

    Citation: BMC Medical Genomics 2020 13:142

    Content type: Research article

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  40. 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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  41. 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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  42. 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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  43. 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

    Published on:

  44. 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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  46. 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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  47. 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

    Published on:

  48. 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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  49. 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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  50. 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

    Published on:

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BMC Medical Genomics

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