A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy-Reference-Cited by-同舟云学术

A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy

Published:2023-02-09 Issue:2 Volume:94 Page:683-690
ISSN:0031-3998
Container-title:Pediatric Research
language:en
Short-container-title:Pediatr Res

Author:

Fan Peng,Yang Kun-Qi,Han Bing,Kong Dan,Yin Wei-Hua,Li Jing-Hui,Yang Zhuo-Xuan,Niu Li-Li,Fu Chun-Sheng,Rong Cheng-Zhen,Lin Ya-Hui,Wang Hu,Zhou Xian-Liang,Gao Ling-Gen,Qin Xiu-Chuan,Tian Tao

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

https://www.nature.com/articles/s41390-023-02515-3.pdf

Reference30 articles.

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2. Sengers, R. C., Trijbels, J. M., Willems, J. L., Daniels, O. & Stadhouders, A. M. Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. J. Pediatr. 86, 873–880 (1975).

3. Fnon, N. F., Hassan, H. H., Ali, H. M. & Sobh, Z. K. Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report. Cardiovasc. Pathol. 54, 107371 (2021).

4. Kalari, S., Zhao, Y., Spannhake, E. W., Berdyshev, E. V. & Natarajan, V. Role of acylglycerol kinase in Lpa-induced Il-8 secretion and transactivation of epidermal growth factor-receptor in human bronchial epithelial cells. Am. J. Physiol. Lung Cell Mol. Physiol. 296, L328–L336 (2009).

5. Bektas, M. et al. A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells. J. Cell Biol. 169, 801–811 (2005).

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