Hypotrichosis simplex of the scalp is caused by nonsense mutations in the corneodesmosin gene (CDSN)

被引：0

作者：

Levy-Nissenbaum, E

Betz, RC

Frydman, M

Simon, M

Lahat, H

Bakhan, T

Goldman, B

Bygum, A

Pierick, M

Hillmer, AM

Jonca, N

Toribio, J

Kruse, R

Dewald, G

Cichon, S

Kubisch, C

Guerrin, M

Serre, G

Nöthen, MM

Pras, E

机构：

[1] Danek Gartner Inst Human Genet, Tel Hashomer, Israel

[2] Tel Aviv Univ, IL-69978 Tel Aviv, Israel

[3] Univ Antwerp, B-2020 Antwerp, Belgium

[4] CNRS, FRE2623, Toulouse, France

[5] Odense Univ Hosp, DK-5000 Odense, Denmark

[6] Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany

[7] Univ Santiago de Compostela, Santiago De Compostela, Spain

[8] Univ Dusseldorf, D-4000 Dusseldorf, Germany

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2003年 / 121卷 / 06期

关键词：

D O I：

暂无

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

C35

引用

页码：1577 / 1577

页数：1

共 50 条

[1] Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
Etgar Levy-Nissenbaum
Regina C Betz
Moshe Frydman
Michel Simon
Hadas Lahat
Tengiz Bakhan
Boleslaw Goldman
Anette Bygum
Monika Pierick
Axel M Hillmer
Nathalie Jonca
Jaime Toribio
Roland Kruse
Georg Dewald
Sven Cichon
Christian Kubisch
Marina Guerrin
Guy Serre
Markus M Nöthen
Elon Pras
Nature Genetics, 2003, 34 : 151 - 153
[2] Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
Levy-Nissenbaum, E
Betz, RC
Frydman, M
Simon, M
Lahat, H
Bakhan, T
Goldman, B
Bygum, A
Pierick, M
Hillmer, AM
Jonca, N
Toribio, J
Kruse, R
Dewald, G
Cichon, S
Kubisch, C
Guerrin, M
Serre, G
Nöthen, MM
Pras, E
NATURE GENETICS, 2003, 34 (02) : 151 - 153
[3] Hypotrichosis simplex of the scalp is caused by nonsense mutations in the corneodesmosin gene.
Levy-Nissenbaum, E
Betz, RC
Frydman, M
Simon, M
Goldman, B
Jonca, N
Toribio, J
Cichon, S
Guerrin, M
Serre, G
Nothen, MM
Pras, E
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 473 - 473
[4] A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family
Yang, S. X.
Yin, J. H.
Lin, Z. M.
Wang, H. J.
Ren, Y. L.
Zhang, J.
Li, R. Y.
Yang, Y.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2014, 39 (01) : 75 - 77
[5] Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp
van der Velden, Jaap J. A. J.
Geel, Michel
Engelhart, Jans J.
Jonkman, Marcel F.
Steijlen, Peter M.
JOURNAL OF DERMATOLOGY, 2020, 47 (01): : 3 - 7
[6] Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN
Rayinda, Tuntas
McSweeney, Sheila M.
Lalagianni, Nikolina
Liu, Lu
Guy, Alyson
Fenton, David
Stefanato, Catherine M.
Dand, Nick
McGrath, John A.
Tziotzios, Christos
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2023, 48 (05) : 579 - 583
[7] Hypotrichosis Simplex of the Scalp is an amyloidosis caused by fibrillar aggregates of mutated corneodesmosin
Caubet, C.
Bousset, L.
Clemmensen, O.
Sourigues, Y.
Bygum, A.
Hsu, C. -Y.
Betz, R.
Melki, R.
Simon, M.
Serre, G.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 (10) : 2519 - 2519
[8] Hypotrichosis simplex of the scalp: an amyloidosis caused by fibrillar aggregates of mutated corneodesmosin
Caubet, C.
Bousset, L.
Clemmensen, O.
Sourigues, Y.
Bygum, A.
Coudane, F.
Betz, R.
Melki, R.
Simon, M.
Serre, G.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 : S52 - S52
[9] A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp
Dávalos, NO
García-Vargas, A
Pforr, J
Dávalos, IP
Picos-Cárdenas, VJ
García-Cruz, D
Kruse, R
Figuera, LE
Nöthen, MM
Betz, RC
BRITISH JOURNAL OF DERMATOLOGY, 2005, 153 (06) : 1216 - 1219
[10] A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family
Huang, H.
Sun, J.
Fu, L.
Wu, J.
Guo, H.
Yang, C.
Zheng, X.
Tang, H.
Sun, L.
Zhang, X.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2018, 43 (06) : 722 - 723

← 1 2 3 4 5 →