Table Info

Table 1.

HHT patients

Patients	Genotype	Mutations	Used in studies
16	ALK1	c.586A>G	Migration qPCR for ENG, ALK1, CD26 and CXCR4 NOx in plasma
24	ALK1	no information
25	ALK1	c.772+2C>G
32	ALK1	c.867_868delinsTT (p.Gln290X)
33	ALK1	c.1, 403T>G (p.Met468Arg)
36	ALK1	c.329C>A (p.Ser110X)
29	ENG	c.690-2A>T
30	ENG	deletion of exon 2
37	ENG	c.1, 205dupA
38	ENG (ENG family)	no information
44	ENG	c.115delA
28	ENG	no information
45	ENG	no information
CT002	ENG	c.657-658delCA	qPCR for SOD1 and GPX1
CT003	ENG	c.1, 082_1, 085del (p.Thr361Serfs)
CT004	ALK1	c.1, 107_1, 108delAG (p.Arg369fs)
CT005	ENG	c.20dupC (p.Leu8fs)
CT006	ENG	c.38T>G (p.Leu13Arg)
CT007	ALK1	c.1, 231C>T (p.Arg411Trp)
CT008	ALK1	c.1, 120C>T (R374W)
CT009	ENG	Familial mutation
CT011	ALK1	c.430C>T (p.Arg144X)
CT012	ENG	c.588G>A (W196X)
CT013	ENG	c.657-658delCA	qPCR for SOD1
CT016	ALK1	c.1, 435C>T (p.arg479*)
CT001	ENG	c.655C>G (p.His219Asp)

qPCR: quantitative polymerase chain reaction; NOx: nitrogen oxide; GPX1: glutathione peroxidase 1

Declarations

Author contributions

MEF and HS contributed conception and design of the study; ZH and SS performed the experiments, collected data; ZH, SS and HS analyzed and performed the statistical analysis; MF and DC recruited patients and collected blood samples from patients; ZH and HS wrote the first draft of the manuscript. All authors contributed to manuscript revision, read and approved the submitted version.

Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethical approval

All protocols involving human samples were approved by the Research Ethics Board of St. Michael’s Hospital, University of Toronto, and the Committee on Human Research of the University of California, San Francisco (UCSF), in accordance with the Code of Ethics of the World Medical Association (Declaration of Helsinki).

Consent to participate

Informed written consent for study participation was obtained from all patients and healthy volunteers.

Consent to publication

Not applicable.

Availability of data and materials

Not applicable.

Funding

This study was supported by research grants from the National Institutes of Health (R01 NS027713, R01 HL122774, R01 NS112819 and R21NS083788) and the Michael Ryan Zodda Foundation to HS. MEF was also supported by the Nelson Arthur Hyland Foundation and the Li Ka Shing Knowledge Institute.

Copyright

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