Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome

Bazex-Dupré-Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS to an 11·4-Mb interval on chromosome Xq25-q27.1. However, the gen...

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Main Authors:	Liu, Yanshan, Banka, Siddharth, Huang, Yingzhi, Hardman-Smart, Jonathan, Pye, Derek, Torrelo, Antonio, Beaman, Glenda M., Kazanietz, Marcelo G., Baker, Martin J., Ferrazzano, Carlo, Shi, Chenfu, Orozco, Gisela, Eyre, Stephen, van Geel, Michel, Bygum, Anette, Fischer, Judith, Miedzybrodzka, Zosia, Abuzahra, Faris, Rübben, Albert, Cuvertino, Sara, Ellingford, Jamie M., Smith, Miriam J., Evans, D. Gareth, Weppner-Parren, Lizelotte J. M. T., van Steensel, Maurice A. M., Chaudhary, Iskander H., Mangham, D. Chas, Lear, John T., Paus, Ralf, Frank, Jorge, Newman, William G., Zhang, Xue
Other Authors:	Lee Kong Chian School of Medicine (LKCMedicine)
Format:	Article
Language:	English
Published:	2022
Subjects:	Science::Medicine Follicular Atrophoderma Hair Follicle
Online Access:	https://hdl.handle.net/10356/163556
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Institution:	Nanyang Technological University
Language:	English

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spelling	sg-ntu-dr.10356-1635562022-12-09T01:59:44Z Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome Liu, Yanshan Banka, Siddharth Huang, Yingzhi Hardman-Smart, Jonathan Pye, Derek Torrelo, Antonio Beaman, Glenda M. Kazanietz, Marcelo G. Baker, Martin J. Ferrazzano, Carlo Shi, Chenfu Orozco, Gisela Eyre, Stephen van Geel, Michel Bygum, Anette Fischer, Judith Miedzybrodzka, Zosia Abuzahra, Faris Rübben, Albert Cuvertino, Sara Ellingford, Jamie M. Smith, Miriam J. Evans, D. Gareth Weppner-Parren, Lizelotte J. M. T. van Steensel, Maurice A. M. Chaudhary, Iskander H. Mangham, D. Chas Lear, John T. Paus, Ralf Frank, Jorge Newman, William G. Zhang, Xue Lee Kong Chian School of Medicine (LKCMedicine) Skin Research Institute of Singapore, A*STAR Science::Medicine Follicular Atrophoderma Hair Follicle Bazex-Dupré-Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS to an 11·4-Mb interval on chromosome Xq25-q27.1. However, the genetic mechanism of BDCS remains an open question. X.Z. is supported by the National Natural Science Foundation of China (grant number 81788101), the CAMS Innovation Fund for Medical Sciences (grant numbers 2021-I2M-1-018 and 2016-I2M-1-002) and the National Key Research and Development Program of China (grant number 2016YFC0905100). M.J.S., D.G.E., R.P. and W.G.N. are supported by the Manchester NIHR Biomedical Research Centre (IS-BRC-1215-20007). Z.M. is supported by the NHS Grampian Biorepository (NHS Scotland). J.M.E. is funded by a postdoctoral research fellowship from the Health Education England Genomics Education Programme. G.O. and C.S. are funded by Wellcome Trust awards (207491/Z/17/Z for G.O., 215207/Z/19/Z for C.S.). G.O., C.S. and S.E. are supported by a Versus Arthritis award (21754) and NIHR Manchester BRC. S.E. is supported by a Medical Research Council award (MR/N00017X/1). 2022-12-09T01:59:44Z 2022-12-09T01:59:44Z 2022 Journal Article Liu, Y., Banka, S., Huang, Y., Hardman-Smart, J., Pye, D., Torrelo, A., Beaman, G. M., Kazanietz, M. G., Baker, M. J., Ferrazzano, C., Shi, C., Orozco, G., Eyre, S., van Geel, M., Bygum, A., Fischer, J., Miedzybrodzka, Z., Abuzahra, F., Rübben, A., ...Zhang, X. (2022). Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome. British Journal of Dermatology, 187(6), 948-961. https://dx.doi.org/10.1111/bjd.21842 0007-0963 https://hdl.handle.net/10356/163556 10.1111/bjd.21842 35986704 2-s2.0-85137902817 6 187 948 961 en British Journal of Dermatology © 2022 British Association of Dermatologists. All rights reserved.
institution	Nanyang Technological University
building	NTU Library
continent	Asia
country	Singapore Singapore
content_provider	NTU Library
collection	DR-NTU
language	English
topic	Science::Medicine Follicular Atrophoderma Hair Follicle
spellingShingle	Science::Medicine Follicular Atrophoderma Hair Follicle Liu, Yanshan Banka, Siddharth Huang, Yingzhi Hardman-Smart, Jonathan Pye, Derek Torrelo, Antonio Beaman, Glenda M. Kazanietz, Marcelo G. Baker, Martin J. Ferrazzano, Carlo Shi, Chenfu Orozco, Gisela Eyre, Stephen van Geel, Michel Bygum, Anette Fischer, Judith Miedzybrodzka, Zosia Abuzahra, Faris Rübben, Albert Cuvertino, Sara Ellingford, Jamie M. Smith, Miriam J. Evans, D. Gareth Weppner-Parren, Lizelotte J. M. T. van Steensel, Maurice A. M. Chaudhary, Iskander H. Mangham, D. Chas Lear, John T. Paus, Ralf Frank, Jorge Newman, William G. Zhang, Xue Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
description	Bazex-Dupré-Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS to an 11·4-Mb interval on chromosome Xq25-q27.1. However, the genetic mechanism of BDCS remains an open question.
author2	Lee Kong Chian School of Medicine (LKCMedicine)
author_facet	Lee Kong Chian School of Medicine (LKCMedicine) Liu, Yanshan Banka, Siddharth Huang, Yingzhi Hardman-Smart, Jonathan Pye, Derek Torrelo, Antonio Beaman, Glenda M. Kazanietz, Marcelo G. Baker, Martin J. Ferrazzano, Carlo Shi, Chenfu Orozco, Gisela Eyre, Stephen van Geel, Michel Bygum, Anette Fischer, Judith Miedzybrodzka, Zosia Abuzahra, Faris Rübben, Albert Cuvertino, Sara Ellingford, Jamie M. Smith, Miriam J. Evans, D. Gareth Weppner-Parren, Lizelotte J. M. T. van Steensel, Maurice A. M. Chaudhary, Iskander H. Mangham, D. Chas Lear, John T. Paus, Ralf Frank, Jorge Newman, William G. Zhang, Xue
format	Article
author	Liu, Yanshan Banka, Siddharth Huang, Yingzhi Hardman-Smart, Jonathan Pye, Derek Torrelo, Antonio Beaman, Glenda M. Kazanietz, Marcelo G. Baker, Martin J. Ferrazzano, Carlo Shi, Chenfu Orozco, Gisela Eyre, Stephen van Geel, Michel Bygum, Anette Fischer, Judith Miedzybrodzka, Zosia Abuzahra, Faris Rübben, Albert Cuvertino, Sara Ellingford, Jamie M. Smith, Miriam J. Evans, D. Gareth Weppner-Parren, Lizelotte J. M. T. van Steensel, Maurice A. M. Chaudhary, Iskander H. Mangham, D. Chas Lear, John T. Paus, Ralf Frank, Jorge Newman, William G. Zhang, Xue
author_sort	Liu, Yanshan
title	Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
title_short	Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
title_full	Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
title_fullStr	Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
title_full_unstemmed	Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
title_sort	germline intergenic duplications at xq26.1 underlie bazex-dupré-christol basal cell carcinoma susceptibility syndrome
publishDate	2022
url	https://hdl.handle.net/10356/163556
_version_	1753801118285037568

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome

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