海外工作期间,指导博士生薛婧怡同学发表SCI论文6篇(含中科院1区Top两篇),其中1篇论文在欧洲钙化组织学会(ECTS)年会交流并获得“East-meets-West Award”。因发现人类骨量调控新基因SLC4A2,并命名新疾病“9型常染体大理石骨病”(OMIM #620366),薛婧怡同学获得日本RIKEN颁发的“樱舞赏”。 ![](http://www.guolab-genetics.com/upload/img/20231012200128.jpg)
恭喜薛婧怡同学获得博士学位,感谢她在课题组内的辛勤付出,祝愿她在首都医科大学的讲师工作中取得更加优异的成绩。
攻读博士期间发表论文: 1. Xue JY, Ikegawa S, Guo L. SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis. Bone. 2023 Feb;167:116603. 2. Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S, Guo L. SLC4A2 Deficiency Causes a New Type of Osteopetrosis. J Bone Miner Res. 2022 Feb;37(2):226-235. 3. Xue JY, Simsek-Kiper PO, Utine GE, Yan L, Wang Z, Taskiran EZ, Karaosmanoglu B, Imren G, Gocmen R, Nishimura G, Matsumoto N, Miyake N, Ikegawa S, Guo L. Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis. J Hum Genet. 2021 Jun;66(6):607-611. 4. Xue JY, Wang Z, Smithson SF, Burren CP, Matsumoto N, Nishimura G, Ikegawa S, Guo L. The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins. J Hum Genet. 2021 Apr;66(4):371-377. 5. Xue JY, Ikegawa S, Guo L. Genetic disorders associated with the RANKL/OPG/RANK pathway. J Bone Miner Metab. 2021 Jan;39(1):45-53. 6. Xue JY, Wang Z, Shinagawa S, Ohashi H, Otomo N, Elcioglu NH, Nakashima T, Nishimura G, Ikegawa S, Guo L. TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum. J Bone Miner Res. 2019 Oct;34(10):1873-1879. 所获奖项: ![](http://www.guolab-genetics.com/upload/img/20231012195534.jpg)
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