Skip to main content

Articles

Page 1 of 32

  1. Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilateral progressive vision loss. The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). Herein, we report a novel missens...

    Authors: Dewei Li, Le Tian, Xiaochuan Wang and Min Chen

    Citation: BMC Medical Genomics 2021 14:247

    Content type: Research article

    Published on:

  2. The incidence of colorectal cancer (CRC) has increased during recent years in Iran and other developing countries. Clinical studies suggest that essential folate dietary intake and moderate deficiency of methy...

    Authors: Mahla Ghorbani, Marjan Azghandi, Reza Khayami, Javad Baharara and Mohammad Amin Kerachian

    Citation: BMC Medical Genomics 2021 14:246

    Content type: Research

    Published on:

  3. Ductal adenocarcinoma and neuroendocrine cancer are rare subtypes of prostate cancer with poor prognosis and limited therapeutic options. We present the first case of ductal adenocarcinoma having a neuroendocr...

    Authors: Hiroaki Kobayashi, Takeo Kosaka, Kohei Nakamura, Kazunori Shojo, Hiroshi Hongo, Shuji Mikami, Hiroshi Nishihara and Mototsugu Oya

    Citation: BMC Medical Genomics 2021 14:245

    Content type: Case report

    Published on:

  4. Though massively parallel sequencing has been widely applied to noninvasive prenatal screen for common trisomy, the clinical use of massively parallel sequencing to noninvasive prenatal diagnose monogenic diso...

    Authors: Chao Chen, Min Chen, Yaping Zhu, Lu Jiang, Jia Li, Yaoshen Wang, Zhe Lu, Fengyu Guo, Hairong Wang, Zhiyu Peng, Yun Yang and Jun Sun

    Citation: BMC Medical Genomics 2021 14:244

    Content type: Research article

    Published on:

  5. Congenital heart disease (CHD) is one of the most common birth defects. Copy number variations (CNVs) have been proved to be important genetic factors that contribute to CHD. Here we screened genome-wide CNVs ...

    Authors: Xingyu Zhang, Bo Wang, Guoling You, Ying Xiang, Qihua Fu, Yongguo Yu and Xiaoqing Zhang

    Citation: BMC Medical Genomics 2021 14:243

    Content type: Research article

    Published on:

  6. Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new va...

    Authors: Chunyan Chen, Jiong Gao, Qing Lv, Chen Xu, Yu Xia and Ailian Du

    Citation: BMC Medical Genomics 2021 14:242

    Content type: Case report

    Published on:

  7. Despite papillary renal cell carcinoma (pRCC) being the second most common type of kidney cancer, the underlying molecular mechanism remains unclear. Targeted therapies in the past have not been successful bec...

    Authors: Ping Wu, Tingting Xiang, Jing Wang, Run Lv, Shaoxin Ma, Limei Yuan, Guangzhen Wu and Xiangyu Che

    Citation: BMC Medical Genomics 2021 14:241

    Content type: Research

    Published on:

  8. Both DNA genotype and methylation of antisense non-coding RNA in the INK4 locus (ANRIL) have been robustly associated with coronary artery disease (CAD), but the interdependent mechanisms of genotype and methylat...

    Authors: Bayi Xu, Zhixia Xu, Yequn Chen, Nan Lu, Zhouwu Shu and Xuerui Tan

    Citation: BMC Medical Genomics 2021 14:240

    Content type: Research

    Published on:

  9. Keloid is a benign fibro-proliferative dermal tumor formed by an abnormal scarring response to injury and characterized by excessive collagen accumulation and invasive growth. The mechanism of keloid formation...

    Authors: Chuying Li, Meitong Jin, Yinli Luo, Zhehu Jin and Longquan Pi

    Citation: BMC Medical Genomics 2021 14:239

    Content type: Research article

    Published on:

  10. Polygenic scores—which quantify inherited risk by integrating information from many common sites of DNA variation—may enable a tailored approach to clinical medicine. However, alongside considerable enthusiasm...

    Authors: Deanna G. Brockman, Lia Petronio, Jacqueline S. Dron, Bum Chul Kwon, Trish Vosburg, Lisa Nip, Andrew Tang, Mary O’Reilly, Niall Lennon, Bang Wong, Kenney Ng, Katherine H. Huang, Akl C. Fahed and Amit V. Khera

    Citation: BMC Medical Genomics 2021 14:238

    Content type: Research article

    Published on:

  11. The componential and structural change in the meniscus with aging would increase the tissue vulnerability of the meniscus, which would induce meniscus tearing. Here, we investigated the molecular mechanism of ...

    Authors: Ming Chen, Siqi Zhou, Huasong Shi, Hanwen Gu, Yinxian Wen and Liaobin Chen

    Citation: BMC Medical Genomics 2021 14:237

    Content type: Research

    Published on:

  12. Ferroptosis is a newly discovered type of programmed cell death that participates in the biological processes of various cancers. However, the mechanism by which ferroptosis modulates acute myeloid leukemia (A...

    Authors: Zhiyuan Zheng, Wei Wu, Zehang Lin, Shuhan Liu, Qiaoqian Chen, Xiandong Jiang, Yan Xue and Donghong Lin

    Citation: BMC Medical Genomics 2021 14:236

    Content type: Research

    Published on:

  13. Microsatellite instability (MSI) is a biomarker for better outcomes in colorectal cancer (CRC). However, this conclusion is controversial. In addition, MSs can be a useful marker for loss of heterozygosity (LO...

    Authors: Xueyun Huo, Dandan Feng, Shuangyue Zhang, Zhenkun Li, Xiaohong Li, Changlong Li, Meng Guo, Jin Wang, Zhongtao Zhang, Qingxian Lu, Xiaoyan Du, Zhigang Bai and Zhenwen Chen

    Citation: BMC Medical Genomics 2021 14:235

    Content type: Research article

    Published on:

  14. It is estimated that 1–13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD...

    Authors: Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles, Regan Doherty, Patricia Goggin, Ben Green, Amanda Harris, David Hunt, Claire L. Jackson, Jenny Lord, Vito Mennella, James Thompson, Woolf T. Walker and Jane S. Lucas

    Citation: BMC Medical Genomics 2021 14:234

    Content type: Research article

    Published on:

  15. Central obesity is a condition that poses a significant risk to global health and requires the employment of novel scientific methods for exploration. The objective of this study is to use DNA methylation anal...

    Authors: Ting Xie, Vesna Gorenjak, Maria G. Stathopoulou, Sébastien Dadé, Eirini Marouli, Christine Masson, Helena Murray, John Lamont, Peter Fitzgerald, Panos Deloukas and Sophie Visvikis-Siest

    Citation: BMC Medical Genomics 2021 14:233

    Content type: Research

    Published on:

  16. Although the effects of macrophages and CD8 T cell infiltration on clinical outcome have been widely reported, the association between immunity-associated gene with them for hepatocellular carcinoma (HCC) rema...

    Authors: Junyu Huo, Liqun Wu and Yunjin Zang

    Citation: BMC Medical Genomics 2021 14:232

    Content type: Research article

    Published on:

  17. The characteristics of Waardenburg syndrome (WS) as a scarce heritable disorder are sensorineural hearing loss and deficits of pigmentation in the skin, hair, and eye. Here, clinical features and detection of ...

    Authors: Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Mohammad Keramatipour and Saeid Morovvati

    Citation: BMC Medical Genomics 2021 14:230

    Content type: Research

    Published on:

  18. Presently, whether X-ray repair cross complementing group 3 (XRCC3) Thr241Met polymorphism is correlated to leukemia risk remains controversial. Because of this reason, the objective of current study is to exp...

    Authors: Zhengjun Xie, Wei Peng, Qiuhua Li, Wei Cheng and Xin Zhao

    Citation: BMC Medical Genomics 2021 14:229

    Content type: Research

    Published on:

  19. Niemann–Pick disease type C (NPC) is an autosomal recessive, neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. Mutations in these genes are associated with abnormal endosomal–lysosom...

    Authors: Imad Dweikat, Othman Thaher, Abdulrahman Abosleem, Almotazbellah Zeer and Ameer Abo Mokh

    Citation: BMC Medical Genomics 2021 14:228

    Content type: Research

    Published on:

  20. Microspherophakia (MSP, OMIM 251,750) is a rare inherited autosomal recessive eye disorder characterized by small spherically shaped lens. Several studies have indicated that the transforming growth factor-bet...

    Authors: Manhua Xu, Kaiming Li and Weimin He

    Citation: BMC Medical Genomics 2021 14:227

    Content type: Case report

    Published on:

  21. The relationship between serum lipids and cholecystitis is still under investigation. To examine the causal effect of serum lipids on cholecystitis using the Mendelian randomization method.

    Authors: Hongqun Yang, Lanlan Chen, Kaiyu Liu, Chengnan Li, Haitao Li, Kezhen Xiong, Zehan Li, Chuang Lu, Wei Chen and Yahui Liu

    Citation: BMC Medical Genomics 2021 14:224

    Content type: Research

    Published on:

  22. Gamma-aminobutyric acid type A (GABAA) receptors mainly mediate the effects of gamma-aminobutyric acid, which is the primary inhibitory neurotransmitter in the central nervous system. Abundant evidence suggest...

    Authors: Sheue-Jane Hou, Shih-Jen Tsai, Po-Hsiu Kuo, Wan-Yu Lin, Yu-Li Liu, Albert C. Yang, Eugene Lin and Tsuo-Hung Lan

    Citation: BMC Medical Genomics 2021 14:223

    Content type: Research

    Published on:

  23. Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with neuronal cell inclusions composed of neurofilaments and other abnormal aggregative proteins as pathological hallmarks. Approx...

    Authors: Feng Lin, Wanhui Lin, Chaofeng Zhu, Jilan Lin, Junge Zhu, Xu-Ying Li, Zhanjun Wang, Chaodong Wang and Huapin Huang

    Citation: BMC Medical Genomics 2021 14:222

    Content type: Research

    Published on:

  24. To investigate the potential association of cochlear clock genes (CRY1, CRY2, PER1, and PER2), the DNF gene (brain-derived neurotrophic factor), and the NTF3 gene (neurotrophin3) with susceptivity to noise-induce...

    Authors: Hao Chen, Xuexue Ding, Enmin Ding, Mengyao Chen, Huimin Wang, Guangzhi Yang and Baoli Zhu

    Citation: BMC Medical Genomics 2021 14:221

    Content type: Research

    Published on:

  25. Coronary heart disease (CHD) is the leading cause of human death worldwide. Genetic factors play an important role in the occurrence of CHD. Our study is designed to investigate the influence of CYP7B1 polymorphi...

    Authors: Tiebiao Liang, Xianbo Zhang, Anshan Liang, Haiqing Wu, Qi Wang, Jun He, Ming Long and Tianbo Jin

    Citation: BMC Medical Genomics 2021 14:220

    Content type: Research

    Published on:

  26. 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:

  27. Schizophrenia (SCZ) is a severe mental illness with high heritability. This study aimed to explore the correlation between MAD1L1, TSNARE polymorphisms and SCZ susceptibility.

    Authors: Xianglai Liu, Hailing Xie, Zejuan Fu, Qiankun Yao, Tianming Han, Dafei Zhan, Zhan Lin and Hong Zhu

    Citation: BMC Medical Genomics 2021 14:218

    Content type: Research

    Published on:

  28. Adenosquamous carcinoma of the prostate (ASCP) is an extremely rare and aggressive prostate cancer variant, whose genomic characteristics have not been elucidated. Although liquid biopsy of circulating tumor c...

    Authors: Junji Kitamura, Satoru Taguchi, Takatsugu Okegawa, Kazuki Honda, Toshihiko Kii, Yoshihiro Tomida, Ryuki Matsumoto, Naoki Ninomiya, Kazuki Masuda, Yu Nakamura, Tsuyoshi Yamaguchi, Manami Kinjo, Mitsuhiro Tambo, Aya Isomura, Akimasa Hayashi, Hiroshi Kamma…

    Citation: BMC Medical Genomics 2021 14:217

    Content type: Case report

    Published on:

  29. 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:

  30. 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

    Published on:

  31. Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study was t...

    Authors: Yuanyuan Zhang, Xiaoliang Liu, Haiming Gao, Rong He, Guoming Chu and Yanyan Zhao

    Citation: BMC Medical Genomics 2021 14:215

    Content type: Research

    Published on:

  32. Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. ...

    Authors: Ashish Kumar Singh, Maren Fridtjofsen Olsen, Liss Anne Solberg Lavik, Trine Vold, Finn Drabløs and Wenche Sjursen

    Citation: BMC Medical Genomics 2021 14:214

    Content type: Software

    Published on:

  33. Chordoma is a rare bone tumor that is typically resistant to chemotherapy and is associated with genetic abnormalities of the T-box transcription factor T (TBXT) gene, which encodes the transcription factor brach...

    Authors: Nuttavut Sumransub, Paari Murugan, Shelly Marette, Denis R. Clohisy and Keith M. Skubitz

    Citation: BMC Medical Genomics 2021 14:213

    Content type: Case report

    Published on:

  34. Clinically, behavior, cognitive, and mental functions are affected during the neurodegenerative disease progression. To date, the molecular pathogenesis of these complex disease is still unclear. With the rapi...

    Authors: Xue Jiang, Miao Chen, Weichen Song and Guan Ning Lin

    Citation: BMC Medical Genomics 2021 14(Suppl 1):141

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 14 Supplement 1

  35. Huntington’s disease is a kind of chronic progressive neurodegenerative disease with complex pathogenic mechanisms. To data, the pathogenesis of Huntington’s disease is still not fully understood, and there ha...

    Authors: Xue Jiang, Weihao Pan, Miao Chen, Weidi Wang, Weichen Song and Guan Ning Lin

    Citation: BMC Medical Genomics 2021 14(Suppl 1):173

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 14 Supplement 1

  36. Hepatocellular carcinoma (HCC) is one of the most common cancers. The discovery of specific genes severing as biomarkers is of paramount significance for cancer diagnosis and prognosis. The high-throughput omi...

    Authors: Zishuang Zhang and Zhi-Ping Liu

    Citation: BMC Medical Genomics 2021 14(Suppl 1):112

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 14 Supplement 1

  37. Angiogenesis is a complex and coordinated process regulated by different growth factors and is one of the hallmark features of cancer. VEGF is one of the most important endothelial cell mitogen and has a criti...

    Authors: Vasudha Sambyal, Kamlesh Guleria, Ruhi Kapahi, Mridu Manjari, Meena Sudan, Manjit Singh Uppal and Neeti Rajan Singh

    Citation: BMC Medical Genomics 2021 14:209

    Content type: Research article

    Published on:

  38. Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-l-fucosidase (FUCA1) activity, leading to the accumulation of fucose-containing glycolipids and glycoproteins in various t...

    Authors: Latifa Chkioua, Yessine Amri, Chayma Saheli, Ferdawes Fenni, Hela Boudabous, Hadhami Ben Turkia, Taieb Messaoud, Neji Tebib and Sandrine Laradi

    Citation: BMC Medical Genomics 2021 14:208

    Content type: Research

    Published on:

  39. Pathogenic variants in POC1A led to SOFT syndrome and variant POC1A-related (vPOC1A) syndrome. SOFT syndrome is a rare primordial dwarfism condition characterized by short stature, onychodysplasia, facial dysmorp...

    Authors: Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang and Ruen Yao

    Citation: BMC Medical Genomics 2021 14:207

    Content type: Case report

    Published on:

  40. Polycystic ovary syndrome (PCOS) is not only a kind of common endocrine syndrome but also a metabolic disorder, which harms the reproductive system and the whole body metabolism of the PCOS patients worldwide....

    Authors: Ying Yu, Panli Tan, Zhenchao Zhuang, Zhejiong Wang, Linchao Zhu, Ruyi Qiu and Huaxi Xu

    Citation: BMC Medical Genomics 2021 14:206

    Content type: Research

    Published on:

  41. Schwannomas are neoplasms that typically arise from the myelin sheath of peripheral nerves and rarely originate within the brain parenchyma. Some case reports present schwannomas arising from the brainstem, bu...

    Authors: Daiichiro Ishigami, Satoru Miyawaki, Hirofumi Nakatomi, Shunsaku Takayanagi, Yu Teranishi, Kenta Ohara, Hiroki Hongo, Shogo Dofuku, Taichi Kin, Hiroyuki Abe, Jun Mitsui, Daisuke Komura, Hiroto Katoh, Shumpei Ishikawa and Nobuhito Saito

    Citation: BMC Medical Genomics 2021 14:205

    Content type: Case report

    Published on:

  42. Ataxia-telangiectasia is a rare autosomal recessive, neurodegenerative disorder caused by alterations in the ATM gene. The majority of ATM pathogenic variants are frameshift or nonsense variants which are predict...

    Authors: Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang and Joungsu Joo

    Citation: BMC Medical Genomics 2021 14:204

    Content type: Case report

    Published on:

    The Correction to this article has been published in BMC Medical Genomics 2021 14:231

  43. With the increase in cannabis use rates, cannabis use disorder is being reported as one of the most common drug use disorders globally. Cannabis use has several known physical, psychological, and social advers...

    Authors: Alannah Hillmer, Caroul Chawar, Stephanie Sanger, Alessia D’Elia, Mehreen Butt, Raveena Kapoor, Flavio Kapczinski, Lehana Thabane and Zainab Samaan

    Citation: BMC Medical Genomics 2021 14:203

    Content type: Research

    Published on:

  44. Metabolic syndrome (MetS) is associated with an increased risk of morbidity and mortality in almost all chronic diseases. The most frequent methods for the calculation of a continuous MetS (cMetS) score have u...

    Authors: Faezeh Abaj, Said Abdul Ghafour Saeedy and Khadijeh Mirzaei

    Citation: BMC Medical Genomics 2021 14:202

    Content type: Research article

    Published on:

  45. Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly ...

    Authors: Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang, Jian Wang and Xiumin Wang

    Citation: BMC Medical Genomics 2021 14:201

    Content type: Case report

    Published on:

  46. Usher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a Chinese patient with hearing loss and to report the identification of a n...

    Authors: Cong Zhou, Yuanyuan Xiao, Hanbing Xie, Shanling Liu and Jing Wang

    Citation: BMC Medical Genomics 2021 14:200

    Content type: Case report

    Published on:

Annual Journal Metrics

Announcement

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.