Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

Alexandros Onoufriadis; Chao Kai Hsu; Cindy R. Eide; Arti Nanda; Guy E. Orchard; Kenji Tomita; Adam Sheriff; William Scott; Chloe Tierney; John Y.W. Lee; Nesrin S. Gomaa; Rasthawathana Desomchoke; Su M. Lwin; Wei Ting Tu; Liang Yu Chen; Hsin Yu Huang; Sheau Chiou Chao; Julia Yu-Yun Lee; Yonis Bare; Thomas Hayday; Alyson L. Guy; Lu Liu; Chris Lees; Tessa Hirdler; Patricia Lovell; Lily Xia; Johannes F. Dayrit; Eduardo Calonje; Michael A. Simpson; Jakub Tolar; Maddy Parsons; John A. McGrath

doi:10.1016/j.jid.2019.05.021

Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

Alexandros Onoufriadis, Chao Kai Hsu, Cindy R. Eide, Arti Nanda, Guy E. Orchard, Kenji Tomita, Adam Sheriff, William Scott, Chloe Tierney, John Y.W. Lee, Nesrin S. Gomaa, Rasthawathana Desomchoke, Su M. Lwin, Wei Ting Tu, Liang Yu Chen, Hsin Yu Huang, Sheau Chiou Chao, Julia Yu-Yun Lee, Yonis Bare, Thomas HaydayAlyson L. Guy, Lu Liu, Chris Lees, Tessa Hirdler, Patricia Lovell, Lily Xia, Johannes F. Dayrit, Eduardo Calonje, Michael A. Simpson, Jakub Tolar, Maddy Parsons, John A. McGrath

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

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Original language	English (US)
Pages (from-to)	2550-2554.e9
Journal	Journal of Investigative Dermatology
Volume	139
Issue number	12
DOIs	https://doi.org/10.1016/j.jid.2019.05.021
State	Published - Dec 2019

Bibliographical note

Funding Information:
This work was supported by the UK National Institute for Health Research comprehensive Biomedical Research Centre award to Guy's and St. Thomas' NHS Foundation Trust, in partnership with the King's College London and King's College Hospital NHS Foundation Trust. We acknowledge Hsing-San Yang, Cheng-Lin Wu, Wan-Rung Chen, and Hui-Min Su for technical assistance and clinical sample collection. We would also like to thank the patients and their relatives who kindly contributed samples. Conceptualization: AO, MP, JAM; Investigation: AO, GEO, KT, AS, WS, CT, JYWL, NSG, RD, SML, W-TT, L-YC, H-YH, S-CC, JY-YL, YB, ALG, LL, CL, THi, PL, LX; Formal Analysis: AO, THa, MAS; Methodology: AO, C-KH, CRE, EC, MP; Resources: AN, JFD; Supervision: MP, JT, JAM; Writing - Original Draft Preparation, AO, CE; Writing - Review and Editing, AO, MP, JAM

Funding Information:
This work was supported by the UK National Institute for Health Research comprehensive Biomedical Research Centre award to Guy's and St. Thomas' NHS Foundation Trust , in partnership with the King’s College London and King’s College Hospital NHS Foundation Trust. We acknowledge Hsing-San Yang, Cheng-Lin Wu, Wan-Rung Chen, and Hui-Min Su for technical assistance and clinical sample collection. We would also like to thank the patients and their relatives who kindly contributed samples.

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10.1016/j.jid.2019.05.021

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Onoufriadis, A., Hsu, C. K., Eide, C. R., Nanda, A., Orchard, G. E., Tomita, K., Sheriff, A., Scott, W., Tierney, C., Lee, J. Y. W., Gomaa, N. S., Desomchoke, R., Lwin, S. M., Tu, W. T., Chen, L. Y., Huang, H. Y., Chao, S. C., Yu-Yun Lee, J., Bare, Y., ... McGrath, J. A. (2019). Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica. Journal of Investigative Dermatology, 139(12), 2550-2554.e9. https://doi.org/10.1016/j.jid.2019.05.021

Onoufriadis, A, Hsu, CK, Eide, CR, Nanda, A, Orchard, GE, Tomita, K, Sheriff, A, Scott, W, Tierney, C, Lee, JYW, Gomaa, NS, Desomchoke, R, Lwin, SM, Tu, WT, Chen, LY, Huang, HY, Chao, SC, Yu-Yun Lee, J, Bare, Y, Hayday, T, Guy, AL, Liu, L, Lees, C, Hirdler, T, Lovell, P, Xia, L, Dayrit, JF, Calonje, E, Simpson, MA, Tolar, J, Parsons, M & McGrath, JA 2019, 'Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica', Journal of Investigative Dermatology, vol. 139, no. 12, pp. 2550-2554.e9. https://doi.org/10.1016/j.jid.2019.05.021

@article{44af8265cf3c4a15a9f1cf89fde4e9a2,

title = "Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica",

author = "Alexandros Onoufriadis and Hsu, {Chao Kai} and Eide, {Cindy R.} and Arti Nanda and Orchard, {Guy E.} and Kenji Tomita and Adam Sheriff and William Scott and Chloe Tierney and Lee, {John Y.W.} and Gomaa, {Nesrin S.} and Rasthawathana Desomchoke and Lwin, {Su M.} and Tu, {Wei Ting} and Chen, {Liang Yu} and Huang, {Hsin Yu} and Chao, {Sheau Chiou} and {Yu-Yun Lee}, Julia and Yonis Bare and Thomas Hayday and Guy, {Alyson L.} and Lu Liu and Chris Lees and Tessa Hirdler and Patricia Lovell and Lily Xia and Dayrit, {Johannes F.} and Eduardo Calonje and Simpson, {Michael A.} and Jakub Tolar and Maddy Parsons and McGrath, {John A.}",

note = "Funding Information: This work was supported by the UK National Institute for Health Research comprehensive Biomedical Research Centre award to Guy's and St. Thomas' NHS Foundation Trust, in partnership with the King's College London and King's College Hospital NHS Foundation Trust. We acknowledge Hsing-San Yang, Cheng-Lin Wu, Wan-Rung Chen, and Hui-Min Su for technical assistance and clinical sample collection. We would also like to thank the patients and their relatives who kindly contributed samples. Conceptualization: AO, MP, JAM; Investigation: AO, GEO, KT, AS, WS, CT, JYWL, NSG, RD, SML, W-TT, L-YC, H-YH, S-CC, JY-YL, YB, ALG, LL, CL, THi, PL, LX; Formal Analysis: AO, THa, MAS; Methodology: AO, C-KH, CRE, EC, MP; Resources: AN, JFD; Supervision: MP, JT, JAM; Writing - Original Draft Preparation, AO, CE; Writing - Review and Editing, AO, MP, JAM Funding Information: This work was supported by the UK National Institute for Health Research comprehensive Biomedical Research Centre award to Guy's and St. Thomas' NHS Foundation Trust , in partnership with the King{\textquoteright}s College London and King{\textquoteright}s College Hospital NHS Foundation Trust. We acknowledge Hsing-San Yang, Cheng-Lin Wu, Wan-Rung Chen, and Hui-Min Su for technical assistance and clinical sample collection. We would also like to thank the patients and their relatives who kindly contributed samples. ",

year = "2019",

month = dec,

doi = "10.1016/j.jid.2019.05.021",

language = "English (US)",

volume = "139",

pages = "2550--2554.e9",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Nature Publishing Group",

number = "12",

}

TY - JOUR

T1 - Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

AU - Onoufriadis, Alexandros

AU - Hsu, Chao Kai

AU - Eide, Cindy R.

AU - Nanda, Arti

AU - Orchard, Guy E.

AU - Tomita, Kenji

AU - Sheriff, Adam

AU - Scott, William

AU - Tierney, Chloe

AU - Lee, John Y.W.

AU - Gomaa, Nesrin S.

AU - Desomchoke, Rasthawathana

AU - Lwin, Su M.

AU - Tu, Wei Ting

AU - Chen, Liang Yu

AU - Huang, Hsin Yu

AU - Chao, Sheau Chiou

AU - Yu-Yun Lee, Julia

AU - Bare, Yonis

AU - Hayday, Thomas

AU - Guy, Alyson L.

AU - Liu, Lu

AU - Lees, Chris

AU - Hirdler, Tessa

AU - Lovell, Patricia

AU - Xia, Lily

AU - Dayrit, Johannes F.

AU - Calonje, Eduardo

AU - Simpson, Michael A.

AU - Tolar, Jakub

AU - Parsons, Maddy

AU - McGrath, John A.

N1 - Funding Information: This work was supported by the UK National Institute for Health Research comprehensive Biomedical Research Centre award to Guy's and St. Thomas' NHS Foundation Trust, in partnership with the King's College London and King's College Hospital NHS Foundation Trust. We acknowledge Hsing-San Yang, Cheng-Lin Wu, Wan-Rung Chen, and Hui-Min Su for technical assistance and clinical sample collection. We would also like to thank the patients and their relatives who kindly contributed samples. Conceptualization: AO, MP, JAM; Investigation: AO, GEO, KT, AS, WS, CT, JYWL, NSG, RD, SML, W-TT, L-YC, H-YH, S-CC, JY-YL, YB, ALG, LL, CL, THi, PL, LX; Formal Analysis: AO, THa, MAS; Methodology: AO, C-KH, CRE, EC, MP; Resources: AN, JFD; Supervision: MP, JT, JAM; Writing - Original Draft Preparation, AO, CE; Writing - Review and Editing, AO, MP, JAM Funding Information: This work was supported by the UK National Institute for Health Research comprehensive Biomedical Research Centre award to Guy's and St. Thomas' NHS Foundation Trust , in partnership with the King’s College London and King’s College Hospital NHS Foundation Trust. We acknowledge Hsing-San Yang, Cheng-Lin Wu, Wan-Rung Chen, and Hui-Min Su for technical assistance and clinical sample collection. We would also like to thank the patients and their relatives who kindly contributed samples.

PY - 2019/12

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DO - 10.1016/j.jid.2019.05.021

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SN - 0022-202X

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SP - 2550-2554.e9

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 12

ER -

Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

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