De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation

doi:10.1161/CIRCRESAHA.121.319004

. 2021 Oct 15;129(9):825-839.

doi: 10.1161/CIRCRESAHA.121.319004. Epub 2021 Sep 17.

De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation

Hao Li^#^{1

2}, Yoonhee Nam^#³, Ran Huo^#^{1

2}, Weilun Fu^#^{1

2}, Biaobin Jiang^{4

5}, Qiuxia Zhou³, Dong Song³, Yingxi Yang^{4

5}, Yuming Jiao^{1

2}, Jiancong Weng^{1

2}, Zihan Yan^{1

2}, Lin Di^{6

7}, Jie Li⁸, Jie Wang^{1

2}, Hongyuan Xu^{1

2}, Shuo Wang^{1

2}, Jizong Zhao^{1

2}, Zilong Wen^{3

9}, Jiguang Wang^{3

4

10}, Yong Cao^{1

11

2}

Affiliations

¹ Neurosurgery, Beijing Tiantan Hospital (H.L., R.H., W.F., Y.J., Jiancong Weng, Z.Y., Jie Wang, H.X., S.W., J.Z., Y.C.), Capital Medical University, China.
² China National Clinical Research Center for Neurological Diseases, Beijing, China (H.L., R.H., W.F., Y.J., Jiancong Weng, Z.Y., Jie Wang, H.X., S.W., J.Z., Y.C.).
³ Division of Life Science, State Key Laboratory of Molecular Neuroscience (Y.N., Q.Z., D.S., Z.W., Jiguang Wang), Clear Water Bay, Kowloon, Hong Kong SAR, China.
⁴ Chemical and Biological Engineering (B.J., Y.Y., Jiguang Wang), Clear Water Bay, Kowloon, Hong Kong SAR, China.
⁵ the Hong Kong University of Science and Technology (B.J.,Y.Y.), Clear Water Bay, Kowloon, Hong Kong SAR, China.
⁶ Beijing Advanced Innovation Center for Genomics, Biomedical Pioneering Innovation Center, Peking-Tsinghua Center for Life Sciences (L.D.), Peking University, Beijing, China.
⁷ School of Life Sciences (L.D.), Peking University, Beijing, China.
⁸ School of Life Sciences, Tsinghua-Peking Center for Life Sciences, Tsinghua University, Beijing, China (J.L.).
⁹ Greater Bay Biomedical Innocenter, Shenzhen Bay Laboratory, Shenzhen, China (Z.W.).
¹⁰ Hong Kong Center for Neurodegenerative Diseases, Hong Kong Science Park, Hong Kong SAR, China (Jiguang Wang).
¹¹ Beijing Neurosurgical Institute (Y.C.), Capital Medical University, China.

^# Contributed equally.

PMID: 34530633
DOI: 10.1161/CIRCRESAHA.121.319004

Free article

De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation

Hao Li et al. Circ Res. 2021.

Free article

. 2021 Oct 15;129(9):825-839.

doi: 10.1161/CIRCRESAHA.121.319004. Epub 2021 Sep 17.

Authors

Affiliations

¹ Neurosurgery, Beijing Tiantan Hospital (H.L., R.H., W.F., Y.J., Jiancong Weng, Z.Y., Jie Wang, H.X., S.W., J.Z., Y.C.), Capital Medical University, China.
² China National Clinical Research Center for Neurological Diseases, Beijing, China (H.L., R.H., W.F., Y.J., Jiancong Weng, Z.Y., Jie Wang, H.X., S.W., J.Z., Y.C.).
³ Division of Life Science, State Key Laboratory of Molecular Neuroscience (Y.N., Q.Z., D.S., Z.W., Jiguang Wang), Clear Water Bay, Kowloon, Hong Kong SAR, China.
⁴ Chemical and Biological Engineering (B.J., Y.Y., Jiguang Wang), Clear Water Bay, Kowloon, Hong Kong SAR, China.
⁵ the Hong Kong University of Science and Technology (B.J.,Y.Y.), Clear Water Bay, Kowloon, Hong Kong SAR, China.
⁶ Beijing Advanced Innovation Center for Genomics, Biomedical Pioneering Innovation Center, Peking-Tsinghua Center for Life Sciences (L.D.), Peking University, Beijing, China.
⁷ School of Life Sciences (L.D.), Peking University, Beijing, China.
⁸ School of Life Sciences, Tsinghua-Peking Center for Life Sciences, Tsinghua University, Beijing, China (J.L.).
⁹ Greater Bay Biomedical Innocenter, Shenzhen Bay Laboratory, Shenzhen, China (Z.W.).
¹⁰ Hong Kong Center for Neurodegenerative Diseases, Hong Kong Science Park, Hong Kong SAR, China (Jiguang Wang).
¹¹ Beijing Neurosurgical Institute (Y.C.), Capital Medical University, China.

^# Contributed equally.

PMID: 34530633
DOI: 10.1161/CIRCRESAHA.121.319004

Erratum in

Correction to: De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation.
[No authors listed] [No authors listed] Circ Res. 2022 Jan 7;130(1):234. doi: 10.1161/RES.0000000000000524. Epub 2022 Jan 7. Circ Res. 2022. PMID: 34995139 No abstract available.

Abstract

[Figure: see text].

Keywords: computational biology; germ-line mutation; high-throughput nucleotide sequencing; intracranial arteriovenous malformations.

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De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation

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De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation

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