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  1. 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

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  2. 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

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  4. 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

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  5. 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

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  6. 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

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  7. 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

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  8. 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

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  9. 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

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  10. 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

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  11. 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

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  12. 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

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  13. 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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  14. 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

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  15. 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

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  16. 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

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  17. 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

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

  19. 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

  20. 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

  21. 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

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  22. 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

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  23. 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

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  24. 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

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  25. 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

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  26. 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:

  27. 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

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  28. 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:

  29. 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:

  30. 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:

  32. Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by mutations of the SLC12A3 gene. It is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. It is universally...

    Authors: Zhiying Liu, Sai Wang, Ruixiao Zhang, Cui Wang, Jingru Lu and Leping Shao

    Citation: BMC Medical Genomics 2021 14:198

    Content type: Case report

    Published on:

  33. GLUT1 Deficiency Syndrome 1 (GLUT1DS1) is a neurological disorder caused by either heterozygous or homozygous mutations in the Solute Carrier Family 2, Member 1 (SLC2A1) gene. SLC2A1 encodes Glucose transporter t...

    Authors: Tugce Bozkurt, Yasemin Alanay, Ugur Isik and Ugur Sezerman

    Citation: BMC Medical Genomics 2021 14:197

    Content type: Case report

    Published on:

  34. Inherited hypertrophic cardiomyopathy (HCM) is a common heart muscle disease that damages heart function and may cause the heart to suddenly stop beating. Genetic factors play an important role in HCM. Pedigre...

    Authors: Yan Zhang, Yiyi Shang, Luo Liu, Xiaoxue Ding, Haiyan Wu, Lijiang Li and Mingjie Pang

    Citation: BMC Medical Genomics 2021 14:196

    Content type: Research

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  35. The non-invasive prenatal test (NIPT) is based on next generation sequencing (NGS) and is used for screening for fetal trisomy. However, it is time-consuming and technically difficult. Recently, peptide nuclei...

    Authors: So Yeon Kim, Seung Mi Lee, Sun Min Kim, Byoung Jae Kim, Ja Nam Koo, Ig Hwan Oh, Sohee Oh, Chan-Wook Park, Jong Kwan Jun, Ji Hyae Lim, Hyun Mee Ryu and Joong Shin Park

    Citation: BMC Medical Genomics 2021 14:195

    Content type: Research

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  36. 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

    Published on:

  37. Age-related hearing impairment (ARHI) has attracted increasing attention recently. It is caused by genetic and environmental factors. A number of ARHI-related genes have been found. This study aimed to detect ...

    Authors: Wanxue Song, Hainan Cao, Dongfeng Zhang, Haiyan Xu, Qianqian Zhang, Zhaoguo Wang, Suyun Li, Weijing Wang, Wenchao Hu, Bingling Wang and Haiping Duan

    Citation: BMC Medical Genomics 2021 14:193

    Content type: Research

    Published on:

  39. Adenylate kinase (AK) deficiency is a rare red cell enzymopathy associated with moderate to severe congenital nonspherocytic hemolytic anemia, along with mental and psychomotor retardation (in exceptional case...

    Authors: Rashmi Dongerdiye, Abhilasha Sampagar, Rati Devendra, Prashant Warang and Prabhakar Kedar

    Citation: BMC Medical Genomics 2021 14:191

    Content type: Research article

    Published on:

  40. Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by uniform shortening of the middle phalanges in all digits. It is associated with variants in the Indian Hedgehog (IHH) gene, which pl...

    Authors: Nozomu Ozaki, Hiroko Okuda, Hatasu Kobayashi, Kouji H. Harada, Sumiko Inoue, Shohab Youssefian and Akio Koizumi

    Citation: BMC Medical Genomics 2021 14:190

    Content type: Research article

    Published on:

  41. SMARCAs, belonged to SWI/SNF2 subfamilies, are critical to cellular processes due to their modulation of chromatin remodeling processes. Although SMARCAs are implicated in the tumor progression of various canc...

    Authors: Feng-Jiao Wang, Yan-Hua Jing, Chien-Shan Cheng, Zhang-Qi Cao, Ju-Ying Jiao and Zhen Chen

    Citation: BMC Medical Genomics 2021 14:189

    Content type: Research

    Published on:

  42. India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored.

    Authors: Himika Gupta, Sivasankar Malaichamy, Ashwin Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan, Vishnu Suresh Babu, Anuprita Ghosh, Arkasubhra Ghosh, Sam Santhosh, Somasekar Seshagiri, Vedam L. Ramprasad and Govindasamy Kumaramanickavel

    Citation: BMC Medical Genomics 2021 14:188

    Content type: Research

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  43. Basal cell carcinoma (BCC) represents by far the most common non-melanoma skin cancer (NMSC) in the world with an increasing incidence of 3% to 10% per year, especially in patients under the age of 40. While v...

    Authors: Marc Abi Karam, Hampig Raphael Kourie, Nadine Jalkh, Cybel Mehawej, Carole Kesrouani, Fady Gh Haddad, Iman Feghaly, Eliane Chouery and Roland Tomb

    Citation: BMC Medical Genomics 2021 14:187

    Content type: Research article

    Published on:

  44. Pathogenic variants in connector enhancer of kinase suppressor of Ras-2 (CNKSR2) located on the X chromosome (Xp22.12) lead to a disorder characterized by developmental delay and a characteristic seizure phenotyp...

    Authors: Leigh Ann Higa, Jennifer Wardley, Christopher Wardley, Susan Singh, Timothy Foster and Joseph J. Shen

    Citation: BMC Medical Genomics 2021 14:186

    Content type: Case report

    Published on:

  45. Benign breast disease (BBD) is a risk factor for breast cancer (BC); however, little is known about the genetic alterations present at the time of BBD diagnosis and how these relate to risk of incident BC.

    Authors: Stacey J. Winham, Chen Wang, Ethan P. Heinzen, Aditya Bhagwate, Yuanhang Liu, Samantha J. McDonough, Melody L. Stallings-Mann, Marlene H. Frost, Robert A. Vierkant, Lori A. Denison, Jodi M. Carter, Mark E. Sherman, Derek C. Radisky, Amy C. Degnim and Julie M. Cunningham

    Citation: BMC Medical Genomics 2021 14:185

    Content type: Research article

    Published on:

  47. To study the accumulation of MS-risk resulting from different combinations of MS-associated conserved-extended-haplotypes (CEHs) of the MHC and three non-MHC “risk-haplotypes” nearby genes EOMES, ZFP36L1, and CLE...

    Authors: D. S. Goodin, P. Khankhanian, P. A. Gourraud and N. Vince

    Citation: BMC Medical Genomics 2021 14:183

    Content type: Research article

    Published on:

  48. SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent ...

    Authors: Juan Xiong, Haolin Duan, Shimeng Chen, Miriam Kessi, Fang He, Xiaolu Deng, Ciliu Zhang, Li Yang, Jing Peng and Fei Yin

    Citation: BMC Medical Genomics 2021 14:182

    Content type: Research

    Published on:

  50. Breast cancer (BC) is the most invasive cancer with different subtypes that its metabolism is unique compared with normal cells. Glutamine is considered critical nutrition that many cancer cells, particularly ...

    Authors: Soheila Delgir, Khandan Ilkhani, Asma Safi, Yazdan Rahmati, Vahid Montazari, Zahra Zaynali-Khasraghi, Farhad Seif, Milad Bastami and Mohammad Reza Alivand

    Citation: BMC Medical Genomics 2021 14:180

    Content type: Research article

    Published on:

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