Activating PIK3CA postzygotic mutations in segmental overgrowth of muscles with bone involvement in the body extremities-Reference-Cited by-同舟云学术

Activating PIK3CA postzygotic mutations in segmental overgrowth of muscles with bone involvement in the body extremities

Published:2022-02-05 Issue:2 Volume:297 Page:387-396
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Tian Wen,Sun Liying,Zhang Qi,Zhao Junhui,Guo Yang,Zhong Wenyao,Liu Liu,Meirelles Katia,Tang Sha,Zhang Jing,Huang Yingzhao,Yin Yuehan,Zhang Nan,Zhao Zongxuan,Li Qingyang,Wu Nan,Fang Ping,Chang Fengqi^ORCID,Wu Zhihong

Funder

the national key research and development program of china

beijing jst research funding

beijing jishuitan hospital nova program

capital's funds for health improvement and research

non-profit central research institute fund of chinese academy of medical sciences

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00438-022-01853-x.pdf

Reference33 articles.

1. Akgumus G, Chang F, Li MM (2017) Overgrowth syndromes caused by somatic variants in the phosphatidylinositol 3-kinase/AKT/Mammalian target of rapamycin pathway. J Mol Diagn 19:487–497. https://doi.org/10.1016/j.jmoldx.2017.04.001

2. Al-Qattan MM (2014) Muscle overgrowth of the upper limb in a proximo-distal gradient and concurrent hypoplasia of the index finger. J Pediatr Orthop 34:715–719. https://doi.org/10.1097/BPO.0000000000000192

3. Al-Qattan MM, Hadadi A, Al-Thunayan AM, Eldali AA (2018) Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G. BMC Med Genet 19:158. https://doi.org/10.1186/s12881-018-0672-z

4. Burke JE, Perisic O, Masson GR, Vadas O, Williams RL (2012) Oncogenic mutation mimic and enhance dynamic events in the natural activation of phosphoinositide 3-kinase p110α (PIK3CA). Proc Natl Acad Sci USA 109:15259–15264. https://doi.org/10.1073/pnas.1205508109

5. Castiglioni C, Bertini E, Orellana P, Villarroel C, Heras LF, Hinzpeter D, Paolinelli P, Bevilacqua JA, Alvarez K (2014) Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity. Am J Med Genet Part A 164A:2365–2369. https://doi.org/10.1002/ajmg.a.36651

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians;Molecular Genetics and Genomics;2024-07-09

2. Morphological and radiological features of congenital muscular hypertrophy of the upper limb: experience from a tertiary institution;Journal of Hand Surgery (European Volume);2023-09-26

3. Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations;Orphanet Journal of Rare Diseases;2023-07-14

4. When, where and which PIK3CA mutations are pathogenic in congenital disorders;Nature Cardiovascular Research;2022-08-08