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  1. Kidney renal clear cell carcinoma (KIRC) is among the major causes of cancer-caused mortality around the world. Transient receptor potential channels (TRPs), due to their role in various human diseases, might ...

    Authors: Jie Ren, Qihang Yuan, Jifeng Liu, Lei Zhong, Hanshuo Li, Guangzhen Wu, Feng Chen and Qizhen Tang
    Citation: BMC Medical Genomics 2022 15:156
    Content type: Research Published on:

  3. Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes. Congenital contractural arachnodactyly syndrome (CCA) is ...

    Authors: Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang and Shanling Liu
    Citation: BMC Medical Genomics 2022 15:154
    Content type: Research article Published on:

  4. Acute respiratory distress syndrome (ARDS) causes significant mortality in young children with certain diseases. Early diagnosis and treatment can reduce infant mortality. Here, we report a rare case of exome ...

    Authors: Xue Gong, Yunru He, Guoyan Lu, Yulin Zhang, Yu Qiu, Lina Qiao and Yifei Li
    Citation: BMC Medical Genomics 2022 15:153
    Content type: Case report Published on:

  5. To investigate the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed. SLC26A4 gene is closely associated with EVA and i...

    Authors: Xiaohui He, Shaozhi Zhao, Lin Shi, Yitong Lu, Yintong Yang and Xinwen Zhang
    Citation: BMC Medical Genomics 2022 15:152
    Content type: Research Published on:

  6. Genome-wide Association Studies (GWAS) aims to uncover the link between genomic variation and phenotype. They have been actively applied in cancer biology to investigate associations between variations and can...

    Authors: Minsu Kim, Jennifer E. Huffman, Amy Justice, Ian Goethert, Greeshma Agasthya and Ioana Danciu
    Citation: BMC Medical Genomics 2022 15:151
    Content type: Research Published on:

  7. Atrial fibrillation (AF) is one of the most prevalent sustained cardiac arrhythmias. The latest studies have revealed a tight correlation between nonalcoholic fatty liver disease (NAFLD) and AF. However, the e...

    Authors: Yanan Chu, Fangcong Yu, Yakui Wu, Jinxiu Yang, Jiaran Shi, Tianxin Ye, Deheng Han and Xingxiang Wang
    Citation: BMC Medical Genomics 2022 15:150
    Content type: Research Published on:

  8. Polycystic ovary syndrome (PCOS) is a common endocrine disorder in premenopausal women, whose etiology remains uncertain, although it is known to be highly heterogeneous and genetically complex. PCOS often pre...

    Authors: Xinyue Ma, Zhao Wang, Changming Zhang, Yuehong Bian, Xin Zhang, Xin Liu, Yongzhi Cao and Yueran Zhao
    Citation: BMC Medical Genomics 2022 15:149
    Content type: Research Published on:

  9. Breast cancer (BRCA) is the primary cause of mortality among females globally. The combination of advanced genomic analysis with proteomics characterization to construct a protein prognostic model will help to...

    Authors: Bo Huang, Xujun Zhang, Qingyi Cao, Jianing Chen, Chenhong Lin, Tianxin Xiang and Ping Zeng
    Citation: BMC Medical Genomics 2022 15:148
    Content type: Research Published on:

  10. Aberrant alternative splicing (AS) contributes to tumor progression. Previous studies have shown that apurinic-apyrimidinic endonuclease-1 (APEX1) is involved in tumor progression. It is unknown whether APEX1 ...

    Authors: Li Peng, Yuwei Liu, Jing Chen, Mengxin Cheng, Ying Wu, Min Chen, Ya Zhong, Dan Shen, Ling Chen and Xujun Ye
    Citation: BMC Medical Genomics 2022 15:147
    Content type: Research Published on:

  12. This study identified underlying genetic molecules associated with histologically unstable carotid atherosclerotic plaques through bioinformatics analysis that may be potential biomarkers and therapeutic targets.

    Authors: Julong Guo, Yachan Ning, Zhixiang Su, Lianrui Guo and Yongquan Gu
    Citation: BMC Medical Genomics 2022 15:145
    Content type: Research Published on:

  13. Methamphetamine (METH) abuse causes serious health problems, including injury to the immune system, leading to increased incidence of infections and even making withdrawal more difficult. Of course, immune cel...

    Authors: Deshenyue Kong, Jun-Hong Mao, Hong Li, Jian-Yu Wang, Yu-Yang Li, Xiao-Cong Wu, Guo-Fen Re, Hua-You Luo, Yi-Qun Kuang and Kun-Hua Wang
    Citation: BMC Medical Genomics 2022 15:144
    Content type: Research Published on:

  14. Most colorectal cancers (CRC) arise from precursor lesions. This study aimed to characterize the mutation profile of colorectal cancer precursor lesions in a Brazilian population.

    Authors: Wellington dos Santos, Mariana Bisarro dos Reis, Jun Porto, Ana Carolina de Carvalho, Marcus Matsushita, Gabriela Oliveira, Kari Syrjänen, Rui Manuel Reis and Denise Peixoto Guimarães
    Citation: BMC Medical Genomics 2022 15:143
    Content type: Research Published on:

  15. Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated.

    Authors: Jiale Xiang, Yuan Jin, Nana Song, Sen Chen, Jiankun Shen, Wen Xie, Xiangzhong Sun, Zhiyu Peng and Yu Sun
    Citation: BMC Medical Genomics 2022 15:142
    Content type: Research Published on:

  16. Targeted therapy has revolutionized the treatment of patients with malignancies harboring mutations in driver genes and has brought a favorable survival benefit to the population with actionable oncogenic muta...

    Authors: Yan Chen, Bo Jiang, Yuange He, Chu Zhang, Wenjie Zhou, Cheng Fang, Dejian Gu, Minxia Zhang, Mei Ji, Juntao Shi and Xin Yang
    Citation: BMC Medical Genomics 2022 15:141
    Content type: Case report Published on:

  17. This study aimed to identify the differentially expressed mRNAs and lncRNAs in inflammatory long head of biceps tendon (LHBT) of rotator cuff tear (RCT) patients and further explore the function and potential ...

    Authors: Yi-Ming Ren, Yuan-Hui Duan, Yun-Bo Sun, Tao Yang, Wei-Yu Hou, Chang Liu and Meng-Qiang Tian
    Citation: BMC Medical Genomics 2022 15:140
    Content type: Research Published on:

  18. Dysferlinopathy encompasses a group of rare muscular dystrophies caused by recessive mutations in the DYSF gene. The phenotype ranges from asymptomatic elevated serum creatine kinase (hyperCKemia) to selective an...

    Authors: Cecilia Contreras-Cubas, Francisco Barajas-Olmos, Maria Inés Frayre-Martínez, Georgina Siordia-Reyes, Claudia C. Guízar-Sánchez, Humberto García-Ortiz, Lorena Orozco and Vicente Baca
    Citation: BMC Medical Genomics 2022 15:139
    Content type: Case report Published on:

  19. Abnormalities in homologous recombination contribute to the aggressive nature of castration-resistant prostate cancer. Retinoblastoma transcriptional corepressor 1 (RB1) and breast cancer 2 (BRCA2) exist close to...

    Authors: Tomohiro Iwasawa, Takeo Kosaka, Shinya Morita, Shuji Mikami, Kohei Nakamura, Hiroshi Hongo, Hiroshi Nishihara and Mototsugu Oya
    Citation: BMC Medical Genomics 2022 15:138
    Content type: Case report Published on:

  20. Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for majority of NOA remain unknown.

    Authors: Yuhua Huang, Ruhui Tian, Junwei Xu, Zhiyong Ji, Yuxiang Zhang, Liangyu Zhao, Chao Yang, Peng Li, Erlei Zhi, Haowei Bai, Sha Han, Jiaqiang Luo, Jingpeng Zhao, Jing Zhang, Zhi Zhou, Zheng Li…
    Citation: BMC Medical Genomics 2022 15:137
    Content type: Research Published on:

  21. Uniparental disomy (UPD) is a condition in which both chromosomes are inherited from the same parent, except for imprinting disorders. Uniparental isodisomy (UPiD) may result in a homozygous variant contributi...

    Authors: Yao Wang, Dong Yu, Wei Wei, Hao Zheng, Ming-Hua Liu, Long Ma, Li-Na Qin, Neng-Zhuang Wang, Jia-Xi Li, Jin-Jiang Wang, Xin-Ling Bi and Hong-Li Yan
    Citation: BMC Medical Genomics 2022 15:136
    Content type: Case report Published on:

  22. Hearing loss is the most common sensory neural disorder in humans, and according to a WHO estimation, 5.5% (466 million) of people worldwide have disabling hearing loss. In this study, a Chinese family with pr...

    Authors: Qiang Du, Qin Sun, Xiaodong Gu, Jinchao Wang, Weitao Li, Luo Guo and Huawei Li
    Citation: BMC Medical Genomics 2022 15:135
    Content type: Research Published on:

  23. Hepatitis B virus (HBV) related hepatocellular carcinoma (HCC) is heterogeneous and frequently contains multifocal tumors, but how the multifocal tumors relate to each other in terms of HBV integration and oth...

    Authors: Wenhui Wang, Yan Chen, Liang Wu, Yi Zhang, Seungyeul Yoo, Quan Chen, Shiping Liu, Yong Hou, Xiao-ping Chen, Qian Chen and Jun Zhu
    Citation: BMC Medical Genomics 2022 15:134
    Content type: Research article Published on:

  24. Transmembrane inner ear (TMIE) protein is an essential component of the mechanotransduction complex. In collaboration with other components, TMIE aids the maintenance and function of the sensory hair cells. Au...

    Authors: Sima Rayat, Mohammad Farhadi, Hessamaldin Emamdjomeh, Saeid Morovvati and Masoumeh Falah
    Citation: BMC Medical Genomics 2022 15:133
    Content type: Research Published on:

  25. Fat mass and obesity-related (FTO) mRNA was downregulated in osteonecrosis patients. The study aimed to evaluate the correlation between FTO polymorphisms and the susceptibility of osteonecrosis of the femoral he...

    Authors: Yuan Wang, Wei Zhong, Shaofeng Wang, Yang Yang and Bing Zhu
    Citation: BMC Medical Genomics 2022 15:132
    Content type: Research Published on:

  26. Authors: E. Zeynep Erson-Omay, Shaurey Vetsa, Sagar Vasandani, Tanyeri Barak, Arushii Nadar, Neelan J. Marianayagam, Kanat Yalcin, Danielle Miyagishima, Stephanie Marie Aguilera, Stephanie Robert, Ketu Mishra-Gorur, Robert K. Fulbright, Declan McGuone, Murat Günel and Jennifer Moliterno
    Citation: BMC Medical Genomics 2022 15:131
    Content type: Correction Published on:

    The original article was published in BMC Medical Genomics 2022 15:112

  28. As a well-known protein, Bid links the extrinsic and intrinsic apoptotic pathways and plays important roles in cell proliferation. In this study, we evaluated the expression of two isoforms of the Bid gene (Bi...

    Authors: Flora Forouzesh, Fatemeh Sadat Kia and Ehsan Nazemalhosseini-Mojarad
    Citation: BMC Medical Genomics 2022 15:129
    Content type: Research Published on:

  29. Gorham-Stout disease is a rare condition characterized by vascular proliferation and the massive destruction of bone tissue. With less than 400 cases in the literature of Gorham-Stout syndrome, we performed a ...

    Authors: Marcos Yébenes Mayordomo, Sofian Al Shboul, Maria Gómez-Herranz, Asim Azfer, Alison Meynert, Donald Salter, Larry Hayward, Anca Oniscu, James T. Patton, Ted Hupp, Mark J. Arends and Javier Antonio Alfaro
    Citation: BMC Medical Genomics 2022 15:128
    Content type: Case report Published on:

  30. Variants in the CASK gene result in a wide range of observed phenotypes in humans, such as FG Syndrome 4 and intellectual disabilities. Intellectual developmental disorder with microcephaly and pontine and cerebe...

    Authors: Sixian Wu, Chuan Jiang, Jiaman Li, Guohui Zhang, Ying Shen and Jing Wang
    Citation: BMC Medical Genomics 2022 15:127
    Content type: Case report Published on:

  32. Noninvasive prenatal testing (NIPT) is the testing of blood samples from pregnant women to screen for fetal risk of chromosomal disorders. Even though in vitro hemolysis of blood specimens is common in clinica...

    Authors: Yaya Guo, Dandan Yu, Kaisu Zhou, Jie Wang, Dongzhu Lei, Zhenpeng Xu, Weijiang Tang, Miaofeng Wu, Xingxing Fang, Jiankun Shen, Zhiyu Peng and Jiale Xiang
    Citation: BMC Medical Genomics 2022 15:125
    Content type: Research Published on:

  34. Prostate cancer (Pca) is a public health problem that affects men, usually of middle age or older. It is the second most common cancer diagnosed in men and the fifth leading cause of death. The RNASEL gene locate...

    Authors: Essonan Kadanga, Abdou Azaque Zouré, Théodora M. Zohoncon, Lassina Traoré, Bienvenu Désiré Ky, Albert Théophane Yonli, Djé Djénèba Aïda Traoré, Bapio Valery Jean Télesphore Elvira Bazié, Herman Karim Sombié, Pegdwendé Abel Sorgho, Sessi Frida Appoline Tovo, Kalifou Traoré, Teega-Wendé Clarisse Ouedraogo, Florencia W. Djigma and Jacques Simpore
    Citation: BMC Medical Genomics 2022 15:123
    Content type: Research Published on:

  35. The popularity of multigene testing increases the probability of identifying variants of uncertain significance (VUS). While accurate variant interpretation enables clinicians to be better informed of the gene...

    Authors: Ava Kwong, Cecilia Yuen Sze Ho, Vivian Yvonne Shin, Chun Hang Au, Tsun-Leung Chan and Edmond Shiu Kwan Ma
    Citation: BMC Medical Genomics 2022 15:122
    Content type: Research Published on:

  36. The mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. Studies have suggested that A1555G mutations have multiple orig...

    Authors: Ping Gu, Guojian Wang, Xue Gao, Dongyang Kang, Pu Dai and Shasha Huang
    Citation: BMC Medical Genomics 2022 15:121
    Content type: Research Published on:

  37. Sickle cell disease (SCD) is a hemoglobin disorders that concern 300,000 newborns each year around the world. There are hemoglobin haplotypes that affect SCD clinic expression.

    Authors: Tosséa A. Stéphane Koui, Alloh Albert Gnondjui, Adji Eric Gbessi, Ako Aristide Bérenger Ako, Baba Coulibaly, A. Delpêche Aka, Bi Sery E. Gonedele, Offiana André Toure and Ronan Jambou
    Citation: BMC Medical Genomics 2022 15:120
    Content type: Research Published on:

  38. The role of copy number variants (CNVs) in susceptibility to asthma is not well understood. This is, in part, due to the difficulty of accurately measuring CNVs in large enough sample sizes to detect associati...

    Authors: Katherine A. Fawcett, German Demidov, Nick Shrine, Megan L. Paynton, Stephan Ossowski, Ian Sayers, Louise V. Wain and Edward J. Hollox
    Citation: BMC Medical Genomics 2022 15:119
    Content type: Research article Published on:

  39. Prostate cancer (PC) is mainly known to metastasize to bone, lung and liver, but isolated metastases of prostate cancer, including ductal carcinoma, in the urinary tract are very rare. We describe two patients...

    Authors: Tsukasa Masuda, Takeo Kosaka, Kohei Nakamura, Hiroshi Hongo, Kazuyuki Yuge, Hiroshi Nishihara and Mototsugu Oya
    Citation: BMC Medical Genomics 2022 15:118
    Content type: Case report Published on:

  40. Small cell lung cancer (SCLC) is an aggressive disease with poor survival. Although molecular and clinical characteristics have been established for SCLC in western patients, limited investigation has been per...

    Authors: Jun Liu, Zhuxiang Zhao, Shuquan Wei, Binkai Li and Ziwen Zhao
    Citation: BMC Medical Genomics 2022 15:117
    Content type: Research Published on:

  41. Alzheimer’s disease (AD) is one of the most common neurodegenerative disorders characterized by progressive decline in cognitive function. Targeted genetic analyses, genome-wide association studies, and imagin...

    Authors: Jae Young Baik, Mansu Kim, Jingxuan Bao, Qi Long and Li Shen
    Citation: BMC Medical Genomics 2022 15(Suppl 2):116
    Content type: Research Published on:

    This article is part of a Supplement: Volume 15 Supplement 2

  42. Idiopathic Scoliosis (IS) is the most common spinal deformity in adolescents, accounting for 80% of all spinal deformities. However, the etiology remains uncertain in most cases, being identified as Adolescent...

    Authors: Sergio De Salvatore, Laura Ruzzini, Umile Giuseppe Longo, Martina Marino, Alessandra Greco, Ilaria Piergentili, Pier Francesco Costici and Vincenzo Denaro
    Citation: BMC Medical Genomics 2022 15:115
    Content type: Research Published on:

  44. Hereditary hearing loss is a heterogeneous class of disorders that exhibits various patterns of inheritance and involves many genes. Variants in the EYA4 gene in DFNA10 are known to lead to postlingual, progressi...

    Authors: Weixun Zhang, Jing Song, Busheng Tong, Mengye Ma, Luo Guo, Yasheng Yuan and Juanmei Yang
    Citation: BMC Medical Genomics 2022 15:113
    Content type: Research Published on:

  45. Multiple meningiomas (MMs) rarely occur sporadically. It is unclear whether each individual tumor in a single patient behaves similarly. Moreover, the molecular mechanisms underlying the formation of sporadic ...

    Authors: E. Zeynep Erson-Omay, Shaurey Vetsa, Sagar Vasandani, Tanyeri Barak, Arushii Nadar, Neelan J. Marianayagam, Kanat Yalcin, Danielle Miyagishima, Stephanie Marie Aguilera, Stephanie Robert, Ketu Mishra-Gorur, Robert K. Fulbright, Declan McGuone, Murat Günel and Jennifer Moliterno
    Citation: BMC Medical Genomics 2022 15:112
    Content type: Research article Published on:

    The Correction to this article has been published in BMC Medical Genomics 2022 15:131

  47. Asthma is a chronic lung disease characterized by reversible inflammation of the airways. The imbalance of Th1/Th2 cells plays a significant role in the mechanisms of asthma. The aim of this study was to ident...

    Authors: Yao Cao, Yi Wu, Li Lin, Lin Yang, Xin Peng and Lina Chen
    Citation: BMC Medical Genomics 2022 15:110
    Content type: Research Published on:

  48. Recurrent Kidney stone formation is a main medical problem imposing a significant burden on both healthcare and the economy worldwide. Environmental and genetic factors have been linked to a bigger risk of kid...

    Authors: Fatemeh Khatami, Alireza Gorji, Mahdi Khoshchehreh, Rahil Mashhadi, Mahin Ahmadi Pishkuhi, Alireza Khajavi, Alireza Namazi Shabestari and Seyed Mohammad Kazem Aghamir
    Citation: BMC Medical Genomics 2022 15:109
    Content type: Research Published on:

  49. The clinical consequences of atherosclerosis are significant source of morbidity and mortality throughout the world, while the molecular mechanisms of the pathogenesis of atherosclerosis are largely unknown.

    Authors: Yihong Yin, Zhaohong Xie, Dong Chen, Hao Guo, Min Han, Zhengyu Zhu and Jianzhong Bi
    Citation: BMC Medical Genomics 2022 15:108
    Content type: Research Published on:

  50. Tumor microenvironment plays pivotal roles in carcinogenesis, cancer development and metastasis. Composition of cancer immune cell subsets can be inferred by deconvolution of gene expression profile accurately...

    Authors: Min Zhu, Xingjie Li, Xu Cheng, Xingxu Yi, Fang Ye, Xiaolai Li, Zongtao Hu, Liwei Zhang, Jinfu Nie and Xueling Li
    Citation: BMC Medical Genomics 2022 15(Suppl 2):107
    Content type: Research Published on:

    This article is part of a Supplement: Volume 15 Supplement 2

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