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一例BBS12基因复合杂合突变导致Bardet-Biedl综合征的诊断和基因检测分析 被引量:3
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作者 沈艳婷 凌雁 +8 位作者 陆志强 李晓牧 卞华 颜红梅 夏明锋 常新霞 蒋晶晶 张晶 高鑫 《遗传》 CAS CSCD 北大核心 2022年第10期975-982,共8页
Bardet-Biedl综合征(Bardet-Biedl syndrome,BBS)是一种罕见的常染色体隐性遗传的纤毛相关疾病,其病因主要与编码BBS蛋白复合体BBSome、鞭毛内运输复合体等基因突变有关。本文报道了1例21岁的女性BBS患者,该患者具有肥胖、视网膜色素变... Bardet-Biedl综合征(Bardet-Biedl syndrome,BBS)是一种罕见的常染色体隐性遗传的纤毛相关疾病,其病因主要与编码BBS蛋白复合体BBSome、鞭毛内运输复合体等基因突变有关。本文报道了1例21岁的女性BBS患者,该患者具有肥胖、视网膜色素变性、双肾囊肿的典型特征,还存在2型糖尿病、非酒精性脂肪肝、亚临床甲状腺功能减退症、轻度传导性听力下降等不典型表现。全外显子组测序发现该患者的BBS12基因2号外显子存在复合杂合突变(c.188delC,p.T63fs和c.1993_1995del,p.665_665del)。进一步通过Sanger测序发现患者的父亲和母亲分别携带c.188delC(p.T63fs)和c.1993_1995del(p.665_665del)突变,但均无相关症状。综上所述,本病例报告发现了BBS12基因的两个新的突变位点(c.188delC,p.T63fs和c.1993_1995del,p.665_665del),为该疾病的研究提供了新的遗传资源,同时该病例还展示了患者从出生到成人期间的整个疾病发展过程,能够帮助临床医生更好地理解BBS。 展开更多
关键词 BARDET-BIEDL综合征 BBS12基因 全外显子组测序
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A SARS-CoV-2 neutralizing antibody discovery by single cell sequencing and molecular modeling
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作者 Zheyue Wang Qi Tang +14 位作者 Bende Liu Wenqing Zhang Yufeng Chen Ningfei Ji Yan Peng Xiaohui Yang Daixun Cui Weiyu Kong Xiaojun Tang Tingting Yang Mingshun Zhang xinxia chang Jin Zhu Mao Huang Zhenqing Feng 《The Journal of Biomedical Research》 CAS CSCD 2023年第3期166-178,共13页
Although vaccines have been developed,mutations of SARS-CoV-2,especially the dominant B.1.617.2(delta)and B.1.529(omicron)strains with more than 30 mutations on their spike protein,have caused a significant decline in... Although vaccines have been developed,mutations of SARS-CoV-2,especially the dominant B.1.617.2(delta)and B.1.529(omicron)strains with more than 30 mutations on their spike protein,have caused a significant decline in prophylaxis,calling for the need for drug improvement.Antibodies are drugs preferentially used in infectious diseases and are easy to get from immunized organisms.The current study combined molecular modeling and single memory B cell sequencing to assess candidate sequences before experiments,providing a strategy for the fabrication of SARS-CoV-2 neutralizing antibodies.A total of 128 sequences were obtained after sequencing 196 memory B cells,and 42 sequences were left after merging extremely similar ones and discarding incomplete ones,followed by homology modeling of the antibody variable region.Thirteen candidate sequences were expressed,of which three were tested positive for receptor binding domain recognition but only one was confirmed as having broad neutralization against several SARS-CoV-2 variants.The current study successfully obtained a SARS-CoV-2 antibody with broad neutralizing abilities and provided a strategy for antibody development in emerging infectious diseases using single memory B cell BCR sequencing and computer assistance in antibody fabrication. 展开更多
关键词 SARS-CoV-2 neutralizing antibody single B cell BCR sequencing molecular modeling
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A SARS-CoV-2 neutralizing antibody discovery by single cell sequencing and molecular modeling
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作者 Zheyue Wang Qi Tang +14 位作者 Bende Liu Wenqing Zhang Yufeng Chen Ningfei Ji Yan Peng Xiaohui Yang Daixun Cui Weiyu Kong Xiaojun Tang Tingting Yang Mingshun Zhang xinxia chang Jin Zhu Mao Huang Zhenqing Feng 《The Journal of Biomedical Research》 CAS CSCD 2023年第3期I0001-I0013,共13页
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Increased serumβ-hydroxybutyrate/acetoacetate ratio and aggravated histological liver inflammation in females with metabolic dysfunction-associated steatotic liver disease and polycystic ovary syndrome
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作者 Xiaopeng Zhu Guligeina Aikebaier +9 位作者 Xilei Ban Qingxia Huang Hongmei Yan xinxia chang Xinyu Yang Xiaoyang Sun Huiru Tang Hua Bian Xin Gao Mingfeng Xia 《Journal of Molecular Cell Biology》 CSCD 2024年第11期59-62,共4页
Polycystic ovary syndrome(PCOS)is a prevalent endocrine disorder among women of reproductive age,with a global prevalence ranging from 5%to 18%(Shrivastava and Conigliaro,2023).Currently,a total of 12.13 million cases... Polycystic ovary syndrome(PCOS)is a prevalent endocrine disorder among women of reproductive age,with a global prevalence ranging from 5%to 18%(Shrivastava and Conigliaro,2023).Currently,a total of 12.13 million cases of infertility(Liu et al.,2024)and 0.24 million cases of cardiovascular disease(Wan et al.,2024)are attributable to PCOS worldwide,and nearly 8 billion US dollars are spent in the USA and Europe for the management of PCOS every year.However,there are still many challenges in understanding and treatment of PCOS. 展开更多
关键词 endocrine disorder cardiovascular disease wan steatotic liver disease serum hydroxybutyrate acetoacetate ratio polycystic ovary syndrome histological liver inflammation metabolic dysfunction polycystic ovary syndrome pcos
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