1. |
Jansen S, Geuer S, Pfundt R, et al. De novo truncating mutations in the last and penultimate exons of PPM1D cause an intellectual disability syndrome. Am J Hum Genet, 2017, 100(4): 650-658.
|
2. |
梅道启, 王媛, 陈国洪, 等. PPM1D基因突变致Jansen-de Vries综合征临床表型与基因型特点分析. 中华神经科杂志, 2021, 54(1): 1140-1147.
|
3. |
Choi J, Appella E, Donehower LA. The structure and expression of the murine wildtype p53-induced phosphatase 1 (Wip1) gene. Genomics, 2000, 64(3): 298-306.
|
4. |
Lu X, Nguyen TA, Moon SH, et al. The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways. Cancer Metastasis Rev, 2008, 27(2): 123-135.
|
5. |
Lowe J, Cha H, Lee MO, et al. Regulation of the Wip1 phosphatase and its effects on the stress response. Front Biosci (Landmark Ed), 2012, 17(4): 1480-1498.
|
6. |
Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med, 2020, 22(2): 245-257.
|
7. |
Almaghthawi H, Nashabat M, Alfadhel M. Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report. Journal of Biochemical and Clinical Genetics, 2018, 1(1): 47-50.
|
8. |
Porrmann J, Rump A, Hackmann K, et al. Novel truncating PPM1D mutation in a patient with intellectual disability. Eur J Med Genet, 2019, 62(1): 70-72.
|
9. |
Kuroda Y, Murakami H, Yokoi T, et al. Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon. Brain Dev, 2019, 41(6): 538-541.
|
10. |
Li Z, Du C, Zhang C, et al. Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome. Mol Genet Genomic Med, 2020, 8(3): e1120.
|
11. |
Martin Fernandez-Mayoralas D, Fernandez-Perrone AL, Jimenez De Domingo A, et al. Jansen-de Vries syndrome. First case diagnosed in Spain. Neurologia (Engl Ed), 2021, 36(4): 330-332.
|
12. |
Tsai MM, Lee NC, Chien YH, et al. Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: a case report and literature review. J Formos Med Assoc, 2022, 121(4): 856-860.
|
13. |
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17(5): 405-424.
|
14. |
Lelieveld SH, Reijnders MR, Pfundt R, et al. Meta-analysis of 2, 104 trios provides support for 10 new genes for intellectual disability. Nat Neurosci, 2016, 19(9): 1194-1196.
|
15. |
Mcrae JF, Clayton S, Fitzgerald TW, et al. Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation. bioRxiv, 2016, 20(5): 1-39.
|
16. |
Tran Mau-Them F, Moutton S, Racine C, et al. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders. Hum Genet, 2020, 139(11): 1381-1390.
|
17. |
刁长英. PPM1D基因表达下调对食管鳞癌细胞凋亡和侵袭能力的影响. 郑州大学, 2018, 硕士学位论文.
|
18. |
Kleiblova P, Shaltiel IA, Benada J, et al. Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint. J Cell Biol, 2013, 201(4): 511-21.
|
19. |
Rigoldi M, Verrecchia E, Manna R, et al. Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses. Ital J Pediatr, 2018, 44(2): 132.
|
20. |
Anwar A, Saleem S, Patel UK, et al. Dravet syndrome: an overview. Cureus, 2019, 11(6): e5006.
|
21. |
Fox K, Wells ME, Tennison M, et al. Febrile infection-related epilepsy syndrome (fires): a literature review and case study. Neurodiagn J, 2017, 57(3): 224-233.
|