Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa

Filippo Pinto e Vairo; Sarah A. Kroc; Nicole L. Bertsch; Ashley N. Sigafoos; Han B. Lee; Nikita R. Dsouza; Karl J. Clark; Pavel N. Pichurin; Michael T. Zimmermann; Eric W. Klee

doi:10.1016/j.thromres.2020.07.014

Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa

Filippo Pinto e Vairo, Sarah A. Kroc, Nicole L. Bertsch, Ashley N. Sigafoos, Han B. Lee, Nikita R. Dsouza, Karl J. Clark, Pavel N. Pichurin, Michael T. Zimmermann, Eric W. Klee

Research output: Contribution to journal › Letter › peer-review

1 Scopus citations

Original language	English (US)
Pages (from-to)	187-189
Number of pages	3
Journal	Thrombosis research
Volume	195
DOIs	https://doi.org/10.1016/j.thromres.2020.07.014
State	Published - Nov 2020

Keywords

Individualized medicine
Livedo racemosa
PROZ
Protein Z
Thrombophilia

ASJC Scopus subject areas

Hematology

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10.1016/j.thromres.2020.07.014

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@article{404cddd6dc6f40688d3749db6b2e2c5a,

title = "Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa",

keywords = "Individualized medicine, Livedo racemosa, PROZ, Protein Z, Thrombophilia",

author = "{Pinto e Vairo}, Filippo and Kroc, {Sarah A.} and Bertsch, {Nicole L.} and Sigafoos, {Ashley N.} and Lee, {Han B.} and Dsouza, {Nikita R.} and Clark, {Karl J.} and Pichurin, {Pavel N.} and Zimmermann, {Michael T.} and Klee, {Eric W.}",

note = "Funding Information: The authors would like to thank the patient and her family for participating in this study. This work was supported by the Mayo Clinic Center for Individualized Medicine (CIM), the Investigative and Functional Genomics Program and the William O. Lund, Jr. and Natalie C. Lund Charitable Foundation. Also, we would like to thank Tanya Schwab, Rebecca Hale, and Carri Prochnow for the logistical support. FPV performed the research, designed the research study, analyzed the data, and wrote the paper. SAK, NLB, PNP performed the research, analyzed the data, and critically reviewed the paper. ANS, HBL, KJC designed the research study, did the functional tests, analyzed the data, and critically reviewed the paper. NRD and MTZ did the molecular modeling and dynamics studies, analyzed the data, and wrote the paper. EWK designed the research study, analyzed the data, and critically reviewed the paper. None. Funding Information: The authors would like to thank the patient and her family for participating in this study. This work was supported by the Mayo Clinic Center for Individualized Medicine (CIM), the Investigative and Functional Genomics Program and the William O. Lund, Jr. and Natalie C. Lund Charitable Foundation . Also, we would like to thank Tanya Schwab, Rebecca Hale, and Carri Prochnow for the logistical support. ",

year = "2020",

month = nov,

doi = "10.1016/j.thromres.2020.07.014",

language = "English (US)",

volume = "195",

pages = "187--189",

journal = "Thrombosis Research",

issn = "0049-3848",

publisher = "Elsevier Limited",

}

TY - JOUR

T1 - Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa

AU - Pinto e Vairo, Filippo

AU - Kroc, Sarah A.

AU - Bertsch, Nicole L.

AU - Sigafoos, Ashley N.

AU - Lee, Han B.

AU - Dsouza, Nikita R.

AU - Clark, Karl J.

AU - Pichurin, Pavel N.

AU - Zimmermann, Michael T.

AU - Klee, Eric W.

N1 - Funding Information: The authors would like to thank the patient and her family for participating in this study. This work was supported by the Mayo Clinic Center for Individualized Medicine (CIM), the Investigative and Functional Genomics Program and the William O. Lund, Jr. and Natalie C. Lund Charitable Foundation. Also, we would like to thank Tanya Schwab, Rebecca Hale, and Carri Prochnow for the logistical support. FPV performed the research, designed the research study, analyzed the data, and wrote the paper. SAK, NLB, PNP performed the research, analyzed the data, and critically reviewed the paper. ANS, HBL, KJC designed the research study, did the functional tests, analyzed the data, and critically reviewed the paper. NRD and MTZ did the molecular modeling and dynamics studies, analyzed the data, and wrote the paper. EWK designed the research study, analyzed the data, and critically reviewed the paper. None. Funding Information: The authors would like to thank the patient and her family for participating in this study. This work was supported by the Mayo Clinic Center for Individualized Medicine (CIM), the Investigative and Functional Genomics Program and the William O. Lund, Jr. and Natalie C. Lund Charitable Foundation . Also, we would like to thank Tanya Schwab, Rebecca Hale, and Carri Prochnow for the logistical support.

PY - 2020/11

Y1 - 2020/11

KW - Individualized medicine

KW - Livedo racemosa

KW - PROZ

KW - Protein Z

KW - Thrombophilia

UR - http://www.scopus.com/inward/record.url?scp=85088387849&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85088387849&partnerID=8YFLogxK

U2 - 10.1016/j.thromres.2020.07.014

DO - 10.1016/j.thromres.2020.07.014

M3 - Letter

C2 - 32721632

AN - SCOPUS:85088387849

SN - 0049-3848

VL - 195

SP - 187

EP - 189

JO - Thrombosis Research

JF - Thrombosis Research

ER -

Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa

Keywords

ASJC Scopus subject areas

Access to Document

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