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  1. Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidenc...

    Authors: Chunyan Jin, Zhiping Gu, Xiaohan Jiang, Pei Yu and Tianhui Xu

    Citation: BMC Medical Genomics 2021 14:164

    Content type: Case report

    Published on:

  3. Genome-wide association studies have identified many single nucleotide polymorphisms (SNPs) associated with increased risk for intracranial aneurysm (IA). However, how such variants affect gene expression with...

    Authors: Kerry E. Poppenberg, Haley R. Zebraski, Naval Avasthi, Muhammad Waqas, Adnan H. Siddiqui, James N. Jarvis and Vincent M. Tutino

    Citation: BMC Medical Genomics 2021 14:162

    Content type: Research

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  4. 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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  5. Karyomegalic interstitial nephritis (KIN) is a rare disease entity first described by Burry in 1974. The term KIN was introduced by Mihatsch et al. in 1979. KIN is characterized by chronic tubulointerstitial n...

    Authors: Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa and Rim Goucha

    Citation: BMC Medical Genomics 2021 14:160

    Content type: Research article

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  6. 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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  8. Charcot-Marie-Tooth disease (CMT) type 4B3 (CMT4B3) is a rare form of genetic neuropathy associated with variants in the MTMR5/SBF1 gene. MTMR5/SBF1 is a pseudophosphatase predicted to regulate endo-lysosomal tra...

    Authors: Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli and Vittoria Petruzzella

    Citation: BMC Medical Genomics 2021 14:157

    Content type: Case report

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  9. Genetic polymorphisms in the MTNR1B gene is associated with type 2 diabetes mellitus (T2DM); however, there is no evidence about its impact on the therapeutic efficacy of nateglinide. This prospective case–contro...

    Authors: Jin-Fang Song, Jie Zhang, Ming-Zhu Zhang, Jiang Ni, Tao Wang, Yi-Qing Zhao and Naveed Ullah Khan

    Citation: BMC Medical Genomics 2021 14:156

    Content type: Research

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  10. COVID-19 is a respiratory viral infection with unique features including a more chronic course and systemic disease manifestations including multiple organ involvement; and there are differences in disease sev...

    Authors: Philip Kam Weng Kwan, Gail B. Cross, Claire M. Naftalin, Bintou A. Ahidjo, Chee Keng Mok, Felic Fanusi, Intan Permata Sari, Siok Ching Chia, Shoban Krishna Kumar, Rawan Alagha, Sai Meng Tham, Sophia Archuleta, October M. Sessions, Martin L. Hibberd and Nicholas I. Paton

    Citation: BMC Medical Genomics 2021 14:155

    Content type: Research

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  11. Structural rearrangements of the genome, which generally occur during meiosis and result in large-scale (> 1 kb) copy number variants (CNV; deletions or duplications ≥ 1 kb), underlie genomic disorders. Recurr...

    Authors: Trenell J. Mosley, H. Richard Johnston, David J. Cutler, Michael E. Zwick and Jennifer G. Mulle

    Citation: BMC Medical Genomics 2021 14:154

    Content type: Research article

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  12. Refractive eye development is regulated by optical defocus in a process of emmetropization. Excessive exposure to negative optical defocus often leads to the development of myopia. However, it is still largely...

    Authors: Tatiana V. Tkatchenko and Andrei V. Tkatchenko

    Citation: BMC Medical Genomics 2021 14:153

    Content type: Research

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  13. Variants identified through parent–child trio-WES yield up to 28–55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis. Stu...

    Authors: Qiang Li, Yiting Wang, Yijun Pan, Jia Wang, Weishi Yu and Xiaodong Wang

    Citation: BMC Medical Genomics 2021 14:152

    Content type: Research

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  14. Milroy disease (MD) is a rare, autosomal-dominant disorder. Variants in the Fms-related tyrosine kinase 4 (FLT4/VEGFR3) gene cause the symptoms of this disease. In this report, we investigated the variant in a la...

    Authors: Yu Sui, Yongping Lu, Meina Lin, Xiang Ni, Xinren Chen, Huan Li and Miao Jiang

    Citation: BMC Medical Genomics 2021 14:151

    Content type: Research

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  15. Oligonucleotide array comparative genomic hybridization (aCGH) analysis has been used for detecting somatic copy number alterations (CNAs) in various types of tumors. This study aimed to assess the clinical ut...

    Authors: Gang Peng, Hongyan Chai, Weizhen Ji, Yufei Lu, Shengming Wu, Hongyu Zhao, Peining Li and Qiping Hu

    Citation: BMC Medical Genomics 2021 14:150

    Content type: Research article

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  16. 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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  17. Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments ...

    Authors: Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah and Melita Irving

    Citation: BMC Medical Genomics 2021 14:148

    Content type: Research article

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  18. Avascular necrosis of the femoral head (ANFH) is a debilitating bone disease, characterized by collapse of the femoral head and subsequent loss of hip joint function. Heterozygous mutations in COL2A1 have been id...

    Authors: Zeng Zhang, Kechao Zhu, Huiyong Dai, Qi Wang, Changqing Zhang and Zhenlin Zhang

    Citation: BMC Medical Genomics 2021 14:147

    Content type: Research

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  19. Characterization of the molecular basis of primary hyperoxaluria type 1 (PH-1) in Syria has been accomplished through the analysis of 90 unrelated chromosomes from 45 Syrians patients with PH-1 from different ...

    Authors: Hossam Murad, Mohamad Baseel Alhalabi, Amir Dabboul, Nour Alfakseh, Mohamad Sayah Nweder, Youssef Zghib and Hala Wannous

    Citation: BMC Medical Genomics 2021 14:146

    Content type: Research

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  20. Atherosclerosis is a chronic inflammatory disease that affects multiple arteries. Numerous studies have shown the inherent immune diversity in atheromatous plaques and suggest that the dysfunction of different...

    Authors: Yang Shen, Li-rong Xu, Xiao Tang, Chang-po Lin, Dong Yan, Song Xue, Rui-zhe Qian and Da-qiao Guo

    Citation: BMC Medical Genomics 2021 14:145

    Content type: Research article

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  21. Transmission within families and multiple spike protein mutations have been associated with the rapid transmission of SARS-CoV-2. We aimed to: (1) describe full genome characterization of SARS-CoV-2 and corre...

    Authors: Gunadi, Hendra Wibawa, Mohamad Saifudin Hakim, Marcellus, Ika Trisnawati, Riat El Khair, Rina Triasih, Irene, Afiahayati, Kristy Iskandar, Siswanto, Nungki Anggorowati, Edwin Widyanto Daniwijaya, Endah Supriyati, Dwi Aris Agung Nugrahaningsih, Eko Budiono…

    Citation: BMC Medical Genomics 2021 14:144

    Content type: Research

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  22. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Shulei Fan, Qiuxia Wang, Amanda Y. Wang, Ping Zhang, Xiang Zhong, Shasha Chen, Guisen Li, Li Wang and Wei Wang

    Citation: BMC Medical Genomics 2021 14:143

    Content type: Correction

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    The original article was published in BMC Medical Genomics 2021 14:123

  24. Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with ery...

    Authors: Ruben D. Arias-Pérez, Salomón Gallego-Quintero, Natalia A. Taborda, Jorge E. Restrepo, Renato Zambrano-Cruz, William Tamayo-Agudelo, Patricia Bermúdez, Constanza Duque, Ismael Arroyave, Johanna A. Tejada-Moreno, Andrés Villegas-Lanau, Alejandro Mejía-García, Wildeman Zapata, Juan C. Hernandez and Gina Cuartas-Montoya

    Citation: BMC Medical Genomics 2021 14:140

    Content type: Case report

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  25. The use of genetically-informed personalized risk information for behavioral disorders, namely smoking and smoking-related behaviors, is a promising yet understudied area. The Genetics and Smoking Risk Profile...

    Authors: Jessica L. Bourdon, Amelia Dorsey, Maia Zalik, Amanda Pietka, Patricia Salyer, Michael J. Bray, Laura J. Bierut and Alex T. Ramsey

    Citation: BMC Medical Genomics 2021 14:139

    Content type: Research article

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  26. Older aged adults and those with pre-existing conditions are at highest risk for severe COVID-19 associated outcomes.

    Authors: Stephen W. Bickler, David M. Cauvi, Kathleen M. Fisch, James M. Prieto, Alicia G. Sykes, Hariharan Thangarajah, David A. Lazar, Romeo C. Ignacio, Dale R. Gerstmann, Allen F. Ryan, Philip E. Bickler and Antonio De Maio

    Citation: BMC Medical Genomics 2021 14:138

    Content type: Research article

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  27. We report a patient with Essential Thrombocythemia (ET), subsequently diagnosed with concurrent myeloid and lymphoid leukemia. Generally, the molecular mechanisms underlying leukemic transformation of Philadel...

    Authors: Yujie Chen, Rafee Talukder, Brian Y. Merritt, Katherine Y. King, Marek Kimmel, Gustavo Rivero and Romina Sosa

    Citation: BMC Medical Genomics 2021 14:137

    Content type: Case report

    Published on:

  28. Melatonin is a hormone that is secreted at night by the pineal gland. It exerts its function by binding to the MT1 and MT2 receptors, which are encoded by the MTNR1A and MTNR1B genes, respectively. Previous studi...

    Authors: Cynthia Tchio, Solomon K. Musani, Alexander Quarshie and Gianluca Tosini

    Citation: BMC Medical Genomics 2021 14:136

    Content type: Research article

    Published on:

  29. Calcific aortic valve disease (CAVD) is the most common subclass of valve heart disease in the elderly population and a primary cause of aortic valve stenosis. However, the underlying mechanisms remain unclear.

    Authors: Jin-Yu Sun, Yang Hua, Hui Shen, Qiang Qu, Jun-Yan Kan, Xiang-Qing Kong, Wei Sun and Yue-Yun Shen

    Citation: BMC Medical Genomics 2021 14:135

    Content type: Research

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  30. Degenerative lumbar spinal stenosis (DLSS) is a common lumbar disease that requires surgery. Previous studies have indicated that genetic mutations are implicated in DLSS. However, studies on specific gene mut...

    Authors: Xin Jiang and Dong Chen

    Citation: BMC Medical Genomics 2021 14:134

    Content type: Research article

    Published on:

  33. 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

    Published on:

  34. The nucleoporin 98 (NUP98)-paired related homeobox 1 (PMX1) fusion gene, which results from t(1;11)(q23;p15), is rare in patients with acute myeloid leukemia (AML). Currently, only two cases of chronic myeloid le...

    Authors: Weijia Fu, Aijie Huang, Hui Cheng, Yanrong Luo, Lei Gao, Gusheng Tang, Jianmin Yang, Jianmin Wang and Xiong Ni

    Citation: BMC Medical Genomics 2021 14:130

    Content type: Case report

    Published on:

  35. Copy number variations (CNVs) account for a substantial proportion of inter-individual genomic variation. However, a majority of genomic variation studies have focused on single-nucleotide variations (SNVs), w...

    Authors: Feyza Yilmaz, Megan Null, David Astling, Hung-Chun Yu, Joanne Cole, Stephanie A. Santorico, Benedikt Hallgrimsson, Mange Manyama, Richard A. Spritz, Audrey E. Hendricks and Tamim H. Shaikh

    Citation: BMC Medical Genomics 2021 14:129

    Content type: Research article

    Published on:

  36. Identification of factors associated with proliferation in the hepatocellular carcinoma (HCC) microenvironment aids in understanding the mechanisms of disease progression and provides druggable targets. Gene e...

    Authors: Liang Hu and Chao Wu

    Citation: BMC Medical Genomics 2021 14:128

    Content type: Research article

    Published on:

  37. This study aimed to determine and verify the prognostic value and potential functional mechanism of signal recognition particle 14 (SRP14) in acute myeloid leukemia (AML) using a genome-wide expression profile...

    Authors: Lingling Shi, Rui Huang and Yongrong Lai

    Citation: BMC Medical Genomics 2021 14:127

    Content type: Research article

    Published on:

  38. Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare form of adrenal Cushing’s syndrome. The slowly progressing expansion of bilateral adrenal tissues usually persists for dozens of year...

    Authors: Wen-Tao He, Xiong Wang, Wen Song, Xiao-Dong Song, Yan-Jun Lu, Yan-Kai Lv, Ting He, Xue-Feng Yu and Shu-Hong Hu

    Citation: BMC Medical Genomics 2021 14:126

    Content type: Case report

    Published on:

  41. Both Genome-wide associations and our previous study have shown that single nucleotide polymorphisms (SNPs) of M-type phospholipase A2 receptor (PLA2R) and human leukocyte antigen complex class II HLA-DQα-chain 1...

    Authors: Shulei Fan, Qiuxia Wang, Amanda Y. Wang, Ping Zhang, Xiang Zhong, Shasha Chen, Guisen Li, Li Wang and Wei Wang

    Citation: BMC Medical Genomics 2021 14:123

    Content type: Research article

    Published on:

    The Correction to this article has been published in BMC Medical Genomics 2021 14:143

  42. Today, there are a lot of markers on the prognosis and diagnosis of complex diseases such as primary breast cancer. However, our understanding of the drivers that influence cancer aggression is limited.

    Authors: Leila Mirsadeghi, Reza Haji Hosseini, Ali Mohammad Banaei-Moghaddam and Kaveh Kavousi

    Citation: BMC Medical Genomics 2021 14:122

    Content type: Research

    Published on:

  43. ABL1 is primarily known as a leukemia-related oncogene due to translocation, but about 2.2% of ABL1 mutations have been identified in bladder cancer, and high expression in solid cancer has also been detected.

    Authors: Min-Hye Kim, Gi-Eun Yang, Mi-So Jeong, Jeong-Yeon Mun, Sang-Yeop Lee, Jong-Kil Nam, Yung Hyun Choi, Tae Nam Kim and Sun-Hee Leem

    Citation: BMC Medical Genomics 2021 14:121

    Content type: Research

    Published on:

  45. Kindlin Family Members have been reported to be aberrantly expressed in various human cancer types and involved in tumorigenesis, tumor progression, and chemoresistance. However, their roles in non-small cell ...

    Authors: Xiaoshan Su, Ning Liu, Weijing Wu, Zhixing Zhu, Yuan Xu, Feng He, Xinfu Chen and Yiming Zeng

    Citation: BMC Medical Genomics 2021 14:119

    Content type: Research

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  46. Associations have been observed among genetic variants, dietary patterns, and metabolic syndrome (MetS). A gap in knowledge is whether a genetic risk score (GRS) and dietary patterns interact to increase MetS ...

    Authors: Dale S. Hardy, Susan B. Racette, Jane T. Garvin, Hirut T. Gebrekristos and Tesfaye B. Mersha

    Citation: BMC Medical Genomics 2021 14:118

    Content type: Research article

    Published on:

  47. Studies on the XRCC3 rs1799794 polymorphism show that this polymorphism is involved in a variety of cancers, but its specific relationships or effects are not consistent. The purpose of this meta-analysis was ...

    Authors: Weiqing Liu, Shumin Ma, Lei Liang, Zhiyong Kou, Hongbin Zhang and Jun Yang

    Citation: BMC Medical Genomics 2021 14:117

    Content type: Research article

    Published on:

  48. Colorectal cancer (CRC) is the second most prevalent cancer, as it accounts for approximately 10% of all annually diagnosed cancers. Studies have indicated that DNA methylation is involved in cancer genesis. T...

    Authors: Xiao-Liang Xing, Zhi-Yong Yao, Chaoqun Xing, Zhi Huang, Jing Peng and Yuan-Wu Liu

    Citation: BMC Medical Genomics 2021 14:116

    Content type: Research

    Published on:

  49. Hepatocellular carcinoma (HCC) is one of the most common and fatal cancers worldwide. HCC invasion and metastasis are crucial for its poor prognosis. SH3PXD2B is a scaffold protein and critical for intravascul...

    Authors: Xiang Kui, Yan Wang, Cheng Zhang, Hai Li, Qingfeng Li, Yang Ke and Lin Wang

    Citation: BMC Medical Genomics 2021 14:115

    Content type: Research

    Published on:

  50. Genetic variants in the human leukocyte antigen (HLA) locus contribute to the risk for developing scleroderma/systemic sclerosis (SSc). However, there are other replicated loci that also contribute to genetic ...

    Authors: Kerry E. Poppenberg, Vincent M. Tutino, Evan Tarbell and James N. Jarvis

    Citation: BMC Medical Genomics 2021 14:114

    Content type: Research

    Published on:

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