郭龙

郭龙,博士,教授,遗传学、病理学与病理生理学博士生导师。

西安交通大学临床医学七年制毕业(临床医学本科、外科学硕士),京都大学医学博士。曾担任日本理化学研究所生命医科学研究中心Deputy Team LeaderYoung PI)。入选陕西省高层次人才引进计划以及西安交通大学青年拔尖人才支持计划” A类。

科研:长期从事运动系统罕见病遗传学病因和发病机制的研究。首次报道4个新的罕见病致病基因,定义并命名BANDDOS综合征(OMIM #618476Ikegawa型颅骨管状骨发育不全(OMIM #619727)等4个新的人类疾病;利用小鼠、斑马鱼、患者来源iPSCs创建3个新的疾病模型,并阐明分子作用机制。以第1或通讯作者在Am J Hum Genet, Nat Commun, J Bone Miner ResPLoS Genet等领域内权威期刊发表文章18篇,被国际知名媒体报道20余次。以共著者在NatureNat Genet等期刊发表文章19篇。研究成果被Nat Rev Dis PrimersNat Rev ImmunolCellNature等著名期刊引用。主持来自日本学术振兴会、日本骨代谢学会、铃木谦三纪念医科学应用研究财团的科研项目各1项。获得欧洲钙化组织学会East-meets-West 奖(本人1次,所指导的博士生1次)、日本人类遗传学会以及日本骨代谢学会研究奖励奖(分别是日本对应领域的45岁以下最高奖,均为中国人首次获奖)。担任J Hum Genet等杂志编辑。

教学:在国外工作期间,指导博士研究生两名。其中,Jing-yi Xue博士发表SCI论文6篇(含中科院1Top两篇),其中1篇论文在欧洲钙化组织学会年会交流并获得East-meets-West 奖。Yoshiro Yonezawa博士发表SCI论文1篇(中科院1Top),该研究入选美国骨代谢学会主办杂志J Bone Miner Res的封面文章。

代表论文(*通讯作者):

 

1. Yonezawa Y, Guo L*, Kakinuma H, Otomo N, Yoshino S, Takeda K, Nakajima M, Shiraki T, Ogura Y, Takahashi Y, Koike Y, Minami S, Uno K, Kawakami N, Ito M, Yonezawa I,   Watanabe K, Kaito T, Yanagida H, Taneichi H, Harimaya K, Taniguchi Y, Shigematsu H, Iida T, Demura S, Sugawara R, Fujita N, Yagi M, Okada E, Hosogane N, Kono K, Chiba K, Kotani T, Sakuma T, Akazawa T, Suzuki T, Nishida K, Kakutani K, Tsuji T, Sudo H, Iwata A, Sato T, Inami S, Nakamura M, Matsumoto M, Terao C, Watanabe K*, Okamoto H, Ikegawa S. Identification of a Functional Susceptibility Variant for Adolescent Idiopathic Scoliosis that Upregulates Early Growth Response 1 (EGR1)-Mediated UNCX Expression. Journal of Bone and Mineral Research, 38(1):144-153, 2023.

2. Xue JY, Ikegawa S, Guo L*. SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis. Bone, 167:116603, 2023.

3. 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. Journal of Bone and Mineral Research, 37(2):226-235, 2022.

4. Guo L,* Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM,* Ikegawa S.* Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Nature Communications, 6;12(1):2046, 2021.

5. Xue JY*, Ikegawa S*, Guo L*. Genetic disorders associated with the RANKL/OPG/RANK pathway. Journal of Bone and Mineral Metabolism. 39:45-53, 2021.

6. Xue JY, Kiper POS, 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-associateddysosteosclerosis: a case with intracranial extramedullaryhematopoiesis. Journal of Human Genetics, 66(6):607-611, 2021.

7. 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. Journal of Human Genetics, 66(4):371-377, 2020.  

8. Xue JY, Wang Z, Shinagawa S, Ohashi H, Otomo N, Elcioglu N, Nakashima T, Nishimura G, Ikegawa S, Guo L*. TNFRSF11A-associated dysosteosclerosis: a report of the second case and characterization of the phenotypic spectrum. Journal of Bone and Mineral Research, 34(10): 1873-1879, 2019.

9. Guo L, Bertola DR*, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, da Silva Franco JF, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck FH, Singleton AB, Ferreira CR, Wang Z, Yan  L, Garbern JY, Kiper POS, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann  R, Vanderver A, Nishimura G, Bueno MP, Simons C, Ishikawa K, Ikegawa S*. Bi-allelic CSF1R mutations cause a syndrome characterized by skeletal dysplasia of dysosteosclerosis-Pyle disease spectrum and degenerative encephalopathy with brain malformation. American Journal of Human Genetics, 104(5): 925-935, 2019.

10. Guo L, Yamashita H, Kou I, Takimoto A, Horike MM,  Horike SI, Sakuma T, Miura S, Adachi T, Yamamoto T, Ikegawa S, Hiraki Y, Shukunami C*. Functional investigation of a non-coding variant associated with adolescent idiopathic scoliosis in zebrafish: elevated expression of the ladybird homeobox gene causes body axis deformation. PLoS Genetics, 12: e1005802, 2016.

郭龙所有研究论文见PubMed(链接)。

1或末位通讯作者研究成果的国际媒体报道(部分)

Science Daily(美国),2016 4 13

https://www.sciencedaily.com/releases/2016/04/160413104310.htm

Scoliosis SOS Clinic (英国), 2016 5 11

https://www.scoliosissos.com/news/post/lbx1-scoliosis-gene-chain-reaction

Asian Scientist(新加坡)Apr. 19, 2016

https://www.asianscientist.com/2016/04/in-the-lab/lbx1-scoliosis-zebrafish-hiroshima/

日经生物技术新闻(日本),2016 2 2

https://bio.nikkeibp.co.jp/atcl/release/16/02/02/00572/

日本経済新聞(日本发行量最大的报纸), 20190412

https://www.nikkei.com/article/DGXLRSP507517_S9A410C1000000/

日刊工業新聞(日本), 2019 04 24

https://www.nikkan.co.jp/articles/view/00514520?isReadConfirmed=true

Alzforum(美国),2019 4 21

https://www.alzforum.org/news/research-news/life-without-microglia-rare-cases-c sf-1r-mutations-paint-grim-picture

QLifePro  医療ニュース(日本),2019 04 16

http://www.qlifepro.com/news/20190416/csf1r-induce-novel-orphan-disease.html

RareS. (日本),2019 4 16

https://raresnet.com/20190416-2/

日刊工業新聞(日本),202147

https://www.nikkan.co.jp/articles/view/594252?isReadConfirmed=true

Tii生命科学(日本), 2021 47

https://medibio.tiisys.com/79977/5/

RIKEN NEWS(日本),202177

https://www.riken.jp/en/news_pubs/research_news/rr/20210707_2/index.html

QLifePro  医療ニュース(日本),2021 11 15

http://www.qlifepro.com/news/20211115/osteopetrosis.html

Tii生命科学(日本), 2021 11 11

https://medibio.tiisys.com/92009/

遺伝性疾患プラス(日本),2022 1 14

https://genetics.qlife.jp/news/20220114-j192

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