Hereditas(Beijing) ›› 2023, Vol. 45 ›› Issue (2): 176-183.doi: 10.16288/j.yczz.22-332
• Genetics Teaching • Previous Articles
Jie Ma1(), Lujie Huang1,2, Qiaoxia Zhang1, Yan Zhu2, Lu Qian2()
Received:
2022-10-18
Revised:
2022-12-05
Online:
2023-02-20
Published:
2023-01-06
Contact:
Ma Jie,Qian Lu
E-mail:2640933799@qq.com;majie@xjtu.edu.cn
Supported by:
Jie Ma, Lujie Huang, Qiaoxia Zhang, Yan Zhu, Lu Qian. PBL teaching design of medical genetics with the case of brachydactyly type A2[J]. Hereditas(Beijing), 2023, 45(2): 176-183.
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[1] | Yang YL, Luo L, Qian Y, Yang F. Cultivation of undergraduates’ self-regulated learning ability in medical genetics based on PAD class. Hereditas(Beijing), 2020, 42(11): 1133-1139. |
杨榆玲, 罗兰, 钱源, 杨芳. 对分课堂下本科生医学遗传学自主学习能力的培养. 遗传, 2020, 42(11): 1133-1139. | |
[2] |
Wang T, Liang L, Zheng MH. Application of formative evaluation and teaching feedback in PBL teaching of medical genetics. Hereditas(Beijing), 2020, 42(8): 810-816.
doi: 10.16288/j.yczz.20-068 pmid: 32952116 |
王涛, 梁亮, 郑敏化. 形成性评价与教学反馈在医学遗传学PBL教学中的应用. 遗传, 2020, 42(8): 810-816.
doi: 10.16288/j.yczz.20-068 pmid: 32952116 |
|
[3] | Chen HM, Dou H, Shen SN, Wang YP. Experimental training of medical genetics based on typical diseases. Chin J Med Edu Res, 2011, 10(2): 236-238. |
陈慧梅, 窦环, 沈苏南, 王亚平. 以疾病为主线的医学遗传学实验技能培养. 中华医学教育探索杂志, 2011, 10(2): 236-238. | |
[4] | Zhou WJ, Yang HY, Xu XM. Creative teaching model of medical genetics. Chin J Med Edu, 2010, 30(3): 366-367. |
周万军, 杨海英, 徐湘民. 医学遗传学创新性教学模式的探索. 中华医学教育杂志, 2010, 30(3): 366-367. | |
[5] |
Zimmerman BJ. A social cognitive view of self-regulated academic learning. J Educ Psychol, 1989, 81(3): 329-339.
doi: 10.1037/0022-0663.81.3.329 |
[6] |
Temtamy SA, Aglan MS. Brachydactyly. Orphanet J Rare Dis, 2008, 3: 15.
doi: 10.1186/1750-1172-3-15 pmid: 18554391 |
[7] | Temtamy SA, Mckusick VA. The genetics of hand malformations. Birth Defects Orig Artic Ser, 1978, 14(3): i-xviii, 1-619. |
[8] |
Lehmann K, Seemann P, Boergermann J, Morin G, Reif S, Knaus P, Mundlos S.A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism- like phenotype or brachydactyly type A2. Eur J Hum Genet, 2006, 14(12): 1248-1254.
doi: 10.1038/sj.ejhg.5201708 |
[9] | Mohr OL, Wriedt C.A new type of hereditary brachyphalangy in man. Washington: Carnegie Institution of Washington, 1919, 5-64. |
[10] |
Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F, Tinschert S, Grzeschik KH, Müller D, Knaus P, Nürnberg P, Mundlos S.Mutations in bone morphogenetic protein receptor 1b cause brachydactyly type A2. Proc Natl Acad Sci USA, 2003, 100(21): 12277-12282.
doi: 10.1073/pnas.2133476100 pmid: 14523231 |
[11] |
Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S. Activating and deactivating mutations in the receptor interaction site of GDF 5 cause symphalangism or brachydactyly type A2. J Clin Invest, 2005, 115(9): 2373-2381.
pmid: 16127465 |
[12] |
Kjaer KW, Eiberg H, Hansen L, van der Hagen CB, Rosendahl K, Tommerup N, Mundlos S. A mutation in the receptor binding site of GDF 5 causes Mohr-Wriedt brachydactyly type A2. J Med Genet, 2006, 43(3): 225-231.
pmid: 16014698 |
[13] |
Plöger F, Seemann P, Schmidt-von Kegler M, Lehmann K, Seidel J, Kjaer KW, Pohl J, Mundlos S. Brachydactyly type A2 associated with a defect in proGDF5 processing. Hum Mol Genet, 2008, 17(9): 1222-1233.
doi: 10.1093/hmg/ddn012 pmid: 18203755 |
[14] |
Dathe K, Kjaer KW, Brehm A, Meinecke P, Nürnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S. Duplications involving a conserved regulatory element downstream of BMP 2 are associated with brachydactyly type A2. Am J Hum Genet, 2009, 84(4): 483-492.
doi: 10.1016/j.ajhg.2009.03.001 |
[15] |
Su PQ, Ding HK, Huang DS, Zhou Y, Huang WJ, Zhong LY, Vyse TJ, Wang YM. A 4.6 kb genomic duplication on 20p12. 2-12.3 is associated with brachydactyly type A 2 in a Chinese family. J Med Genet, 2011, 48(5): 312-316.
doi: 10.1136/jmg.2010.084814 |
[16] |
Liu XD, Gao LH, Zhao AM, Zhang R, Ji BH, Wang L, Zheng YL, Zeng BF, Valenzuela RK, He L, Ma J. Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). PLoS One, 2014, 9(4): e94201.
doi: 10.1371/journal.pone.0094201 |
[17] |
Wang WB, Jia YC, Zhang Z, Xu J, Zou RT, Kang QL. A novel duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). Gene, 2018, 642: 110-115.
doi: 10.1016/j.gene.2017.11.024 |
[18] |
Chandler RL, Chandler KJ, Mcfarland KA, Mortlock DP. BMP2 transcription in osteoblast progenitors is regulated by a distant 3′ enhancer located 156.3 kilobases from the promoter. Mol Cell Biol, 2007, 27(8): 2934-2951.
pmid: 17283059 |
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