Chen, Yan Jiang, Bo He, Yuange Zhang, Chu Zhou, Wenjie Fang, Cheng Gu, Dejian Zhang, Minxia Ji, Mei Shi, Juntao
...
Published in
BMC Medical Genomics
Background 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 mutations. In recent years, the MET exon14 skipping mutation has been recognized as a potentially promising therapeutic target in non-...
Ren, Yi-Ming Duan, Yuan-Hui Sun, Yun-Bo Yang, Tao Hou, Wei-Yu Liu, Chang Tian, Meng-Qiang
Published in
BMC Medical Genomics
Background 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 targets of differentially expressed lncRNAs in biceps tendon pathology. Methods Human gene expression microarray was made between ...
Contreras-Cubas, Cecilia Barajas-Olmos, Francisco Frayre-Martínez, Maria Inés Siordia-Reyes, Georgina Guízar-Sánchez, Claudia C. García-Ortiz, Humberto Orozco, Lorena Baca, Vicente
Published in
BMC Medical Genomics
Background 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 and progressive involvement of the proximal and/or distal muscles of the limbs. Bohan and Peter criteria are the most widely used...
Iwasawa, Tomohiro Kosaka, Takeo Morita, Shinya Mikami, Shuji Nakamura, Kohei Hongo, Hiroshi Nishihara, Hiroshi Oya, Mototsugu
Published in
BMC Medical Genomics
Background 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 each other in the same chromosome, and the significance of their concurrent loss has become a hot topic in the field of ca...
Huang, Yuhua Tian, Ruhui Xu, Junwei Ji, Zhiyong Zhang, Yuxiang Zhao, Liangyu Yang, Chao Li, Peng Zhi, Erlei Bai, Haowei
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Published in
BMC Medical Genomics
Background Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for majority of NOA remain unknown. Methods Two Chinese NOA-affected patients were recruited to identify the genetic causal factor of infertility. Whole-exome sequencing (WES) was conducted in the two patients with NOA. Sanger sequenc...
Wang, Yao Yu, Dong Wei, Wei Zheng, Hao Liu, Ming-Hua Ma, Long Qin, Li-Na Wang, Neng-Zhuang Li, Jia-Xi Wang, Jin-Jiang
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Published in
BMC Medical Genomics
Background 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 contributing to an autosomal recessive disorder in the offspring of a heterozygous carrier. Junctional epidermolysis bullosa intermediate (J...
Du, Qiang Sun, Qin Gu, Xiaodong Wang, Jinchao Li, Weitao Guo, Luo Li, Huawei
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BMC Medical Genomics
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 prelingual sensorineural hearing loss was investigated. The affected individuals showed moderately severe hearing loss at all frequencies. Usin...
Wang, Wenhui Chen, Yan Wu, Liang Zhang, Yi Yoo, Seungyeul Chen, Quan Liu, Shiping Hou, Yong Chen, Xiao-Ping Chen, Qian
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Published in
BMC medical genomics
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 other genomic patterns is not clear. To interrogate heterogeneity of HBV-HCC, we developed a HBV genome enriched single cell sequencing (HGE-scS...
Rayat, Sima Farhadi, Mohammad Emamdjomeh, Hessamaldin Morovvati, Saeid Falah, Masoumeh
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BMC medical genomics
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. Autosomal recessive deafness-6 (DFNB6) is caused by mutated TMIE, a gene in the high genetic heterogeneity spectrum of deafness. Hearing loss h...
Wang, Yuan Zhong, Wei Wang, Shaofeng Yang, Yang Zhu, Bing
Published in
BMC medical genomics
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 head (ONFH). Six polymorphisms in FTO were genotyped via the Agena MassARRAY in 498 ONFH patients and 498 healthy controls. Multiple genetic...
