Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

Thandiswa Ngcungcu; Martin Oti; Jan C. Sitek; Bjorn I. Haukanes; Bolan Linghu; Robert Bruccoleri; Tomasz Stokowy; Edward J. Oakeley; Fan Yang; Jiang Zhu; Marc Sultan; Joost Schalkwijk; Ivonne M. J. J. van Vlijmen-Willems; Charlotte von der Lippe; Han G. Brunner; Kari M. Ersland; Wayne Grayson; Stine Buechmann-Moller; Olav Sundnes; Nanguneri Nirmala; Thomas M. Morgan; Hans van Bokhoven; Vidar M. Steen; Peter R. Hull; Joseph Szustakowski; Frank Staedtler; Huiqing Zhou; Torunn Fiskerstrand; Michele Ramsay

doi:10.1016/j.ajhg.2017.03.012

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

Thandiswa Ngcungcu, Martin Oti, Jan C. Sitek, Bjorn I. Haukanes, Bolan Linghu, Robert Bruccoleri, Tomasz Stokowy, Edward J. Oakeley, Fan Yang, Jiang Zhu, Marc Sultan, Joost Schalkwijk, Ivonne M. J. J. van Vlijmen-Willems, Charlotte von der Lippe, Han G. Brunner, Kari M. Ersland, Wayne Grayson, Stine Buechmann-Moller, Olav Sundnes, Nanguneri NirmalaThomas M. Morgan, Hans van Bokhoven, Vidar M. Steen, Peter R. Hull, Joseph Szustakowski, Frank Staedtler, Huiqing Zhou, Torunn Fiskerstrand, Michele Ramsay

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

Original language	English
Pages (from-to)	737-750
Number of pages	14
Journal	American Journal of Human Genetics
Volume	100
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2017.03.012
Publication status	Published - 4 May 2017

Keywords

ENCODING CYSTATIN-A
DNA-SEQUENCING DATA
EPIDERMAL DIFFERENTIATION
CATHEPSIN-L
OUDTSHOORN SKIN
ERYTHROKERATOLYSIS-HIEMALIS
CHROMOSOME 8P22-P23
GENE
KERATINOCYTES
GENOME

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10.1016/j.ajhg.2017.03.012

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Ngcungcu, T., Oti, M., Sitek, J. C., Haukanes, B. I., Linghu, B., Bruccoleri, R., Stokowy, T., Oakeley, E. J., Yang, F., Zhu, J., Sultan, M., Schalkwijk, J., van Vlijmen-Willems, I. M. J. J., von der Lippe, C., Brunner, H. G., Ersland, K. M., Grayson, W., Buechmann-Moller, S., Sundnes, O., ... Ramsay, M. (2017). Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. American Journal of Human Genetics, 100(5), 737-750. https://doi.org/10.1016/j.ajhg.2017.03.012

Ngcungcu, Thandiswa ; Oti, Martin ; Sitek, Jan C. ; Haukanes, Bjorn I. ; Linghu, Bolan ; Bruccoleri, Robert ; Stokowy, Tomasz ; Oakeley, Edward J. ; Yang, Fan ; Zhu, Jiang ; Sultan, Marc ; Schalkwijk, Joost ; van Vlijmen-Willems, Ivonne M. J. J. ; von der Lippe, Charlotte ; Brunner, Han G. ; Ersland, Kari M. ; Grayson, Wayne ; Buechmann-Moller, Stine ; Sundnes, Olav ; Nirmala, Nanguneri ; Morgan, Thomas M. ; van Bokhoven, Hans ; Steen, Vidar M. ; Hull, Peter R. ; Szustakowski, Joseph ; Staedtler, Frank ; Zhou, Huiqing ; Fiskerstrand, Torunn ; Ramsay, Michele. / Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. In: American Journal of Human Genetics. 2017 ; Vol. 100, No. 5. pp. 737-750.

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title = "Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families",

keywords = "ENCODING CYSTATIN-A, DNA-SEQUENCING DATA, EPIDERMAL DIFFERENTIATION, CATHEPSIN-L, OUDTSHOORN SKIN, ERYTHROKERATOLYSIS-HIEMALIS, CHROMOSOME 8P22-P23, GENE, KERATINOCYTES, GENOME",

author = "Thandiswa Ngcungcu and Martin Oti and Sitek, {Jan C.} and Haukanes, {Bjorn I.} and Bolan Linghu and Robert Bruccoleri and Tomasz Stokowy and Oakeley, {Edward J.} and Fan Yang and Jiang Zhu and Marc Sultan and Joost Schalkwijk and {van Vlijmen-Willems}, {Ivonne M. J. J.} and {von der Lippe}, Charlotte and Brunner, {Han G.} and Ersland, {Kari M.} and Wayne Grayson and Stine Buechmann-Moller and Olav Sundnes and Nanguneri Nirmala and Morgan, {Thomas M.} and {van Bokhoven}, Hans and Steen, {Vidar M.} and Hull, {Peter R.} and Joseph Szustakowski and Frank Staedtler and Huiqing Zhou and Torunn Fiskerstrand and Michele Ramsay",

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doi = "10.1016/j.ajhg.2017.03.012",

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Ngcungcu, T, Oti, M, Sitek, JC, Haukanes, BI, Linghu, B, Bruccoleri, R, Stokowy, T, Oakeley, EJ, Yang, F, Zhu, J, Sultan, M, Schalkwijk, J, van Vlijmen-Willems, IMJJ, von der Lippe, C, Brunner, HG, Ersland, KM, Grayson, W, Buechmann-Moller, S, Sundnes, O, Nirmala, N, Morgan, TM, van Bokhoven, H, Steen, VM, Hull, PR, Szustakowski, J, Staedtler, F, Zhou, H, Fiskerstrand, T & Ramsay, M 2017, 'Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families', American Journal of Human Genetics, vol. 100, no. 5, pp. 737-750. https://doi.org/10.1016/j.ajhg.2017.03.012

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. / Ngcungcu, Thandiswa; Oti, Martin; Sitek, Jan C.; Haukanes, Bjorn I.; Linghu, Bolan; Bruccoleri, Robert; Stokowy, Tomasz; Oakeley, Edward J.; Yang, Fan; Zhu, Jiang; Sultan, Marc; Schalkwijk, Joost; van Vlijmen-Willems, Ivonne M. J. J.; von der Lippe, Charlotte; Brunner, Han G.; Ersland, Kari M.; Grayson, Wayne; Buechmann-Moller, Stine; Sundnes, Olav; Nirmala, Nanguneri; Morgan, Thomas M.; van Bokhoven, Hans; Steen, Vidar M.; Hull, Peter R.; Szustakowski, Joseph; Staedtler, Frank; Zhou, Huiqing; Fiskerstrand, Torunn; Ramsay, Michele.

In: American Journal of Human Genetics, Vol. 100, No. 5, 04.05.2017, p. 737-750.

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

TY - JOUR

T1 - Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

AU - Ngcungcu, Thandiswa

AU - Oti, Martin

AU - Sitek, Jan C.

AU - Haukanes, Bjorn I.

AU - Linghu, Bolan

AU - Bruccoleri, Robert

AU - Stokowy, Tomasz

AU - Oakeley, Edward J.

AU - Yang, Fan

AU - Zhu, Jiang

AU - Sultan, Marc

AU - Schalkwijk, Joost

AU - van Vlijmen-Willems, Ivonne M. J. J.

AU - von der Lippe, Charlotte

AU - Brunner, Han G.

AU - Ersland, Kari M.

AU - Grayson, Wayne

AU - Buechmann-Moller, Stine

AU - Sundnes, Olav

AU - Nirmala, Nanguneri

AU - Morgan, Thomas M.

AU - van Bokhoven, Hans

AU - Steen, Vidar M.

AU - Hull, Peter R.

AU - Szustakowski, Joseph

AU - Staedtler, Frank

AU - Zhou, Huiqing

AU - Fiskerstrand, Torunn

AU - Ramsay, Michele

PY - 2017/5/4

Y1 - 2017/5/4

KW - ENCODING CYSTATIN-A

KW - DNA-SEQUENCING DATA

KW - EPIDERMAL DIFFERENTIATION

KW - CATHEPSIN-L

KW - OUDTSHOORN SKIN

KW - ERYTHROKERATOLYSIS-HIEMALIS

KW - CHROMOSOME 8P22-P23

KW - GENE

KW - KERATINOCYTES

KW - GENOME

U2 - 10.1016/j.ajhg.2017.03.012

DO - 10.1016/j.ajhg.2017.03.012

M3 - Article

C2 - 28457472

VL - 100

SP - 737

EP - 750

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 5

ER -