共 19 条
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis
被引:38
作者:

Moss, C
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Martinez-Mir, A
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Lam, H
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Tadin-Strapps, M
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Kljuic, A
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Christiano, AM
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA
机构:
[1] Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA
[2] Birmingham Childrens Hosp NHS Trust, Dept Dermatol, Birmingham, W Midlands, England
[3] Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA
关键词:
D O I:
10.1111/j.0022-202X.2004.23311.x
中图分类号:
R75 [皮肤病学与性病学];
学科分类号:
100206 ;
摘要:
[No abstract available]
引用
收藏
页码:607 / 610
页数:4
相关论文
共 19 条
[1]
C-cadherin ectodomain structure and implications for cell adhesion mechanisms
[J].
Boggon, TJ
;
Murray, J
;
Chappuis-Flament, S
;
Wong, E
;
Gumbiner, BM
;
Shapiro, L
.
SCIENCE,
2002, 296 (5571)
:1308-1313

Boggon, TJ
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Biochem & Mol Biol, New York, NY 10032 USA

Murray, J
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Biochem & Mol Biol, New York, NY 10032 USA

Chappuis-Flament, S
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Biochem & Mol Biol, New York, NY 10032 USA

Wong, E
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Biochem & Mol Biol, New York, NY 10032 USA

Gumbiner, BM
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Biochem & Mol Biol, New York, NY 10032 USA

Shapiro, L
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Biochem & Mol Biol, New York, NY 10032 USA
[2]
Untangling desmosomal knots with electron tomography
[J].
He, WZ
;
Cowin, P
;
Stokes, DL
.
SCIENCE,
2003, 302 (5642)
:109-113

He, WZ
论文数: 0 引用数: 0
h-index: 0
机构: NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA

Cowin, P
论文数: 0 引用数: 0
h-index: 0
机构: NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA

Stokes, DL
论文数: 0 引用数: 0
h-index: 0
机构: NYU, Sch Med, Skirball Inst Biomol Med, New York, NY 10016 USA
[3]
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
[J].
Hu, ZL
;
Bonifas, JM
;
Beech, J
;
Bench, G
;
Shigihara, T
;
Ogawa, H
;
Ikeda, S
;
Mauro, T
;
Epstein, EH
.
NATURE GENETICS,
2000, 24 (01)
:61-65

Hu, ZL
论文数: 0 引用数: 0
h-index: 0
机构: San Francisco Gen Hosp, Dept Dermatol, San Francisco, CA 94110 USA

Bonifas, JM
论文数: 0 引用数: 0
h-index: 0
机构: San Francisco Gen Hosp, Dept Dermatol, San Francisco, CA 94110 USA

Beech, J
论文数: 0 引用数: 0
h-index: 0
机构: San Francisco Gen Hosp, Dept Dermatol, San Francisco, CA 94110 USA

Bench, G
论文数: 0 引用数: 0
h-index: 0
机构: San Francisco Gen Hosp, Dept Dermatol, San Francisco, CA 94110 USA

Shigihara, T
论文数: 0 引用数: 0
h-index: 0
机构: San Francisco Gen Hosp, Dept Dermatol, San Francisco, CA 94110 USA

Ogawa, H
论文数: 0 引用数: 0
h-index: 0
机构: San Francisco Gen Hosp, Dept Dermatol, San Francisco, CA 94110 USA

Ikeda, S
论文数: 0 引用数: 0
h-index: 0
机构: San Francisco Gen Hosp, Dept Dermatol, San Francisco, CA 94110 USA

Mauro, T
论文数: 0 引用数: 0
h-index: 0
机构: San Francisco Gen Hosp, Dept Dermatol, San Francisco, CA 94110 USA

Epstein, EH
论文数: 0 引用数: 0
h-index: 0
机构:
San Francisco Gen Hosp, Dept Dermatol, San Francisco, CA 94110 USA San Francisco Gen Hosp, Dept Dermatol, San Francisco, CA 94110 USA
[4]
Structure and function of desmosomal proteins and their role in development and disease
[J].
Huber, O
.
CELLULAR AND MOLECULAR LIFE SCIENCES,
2003, 60 (09)
:1872-1890

论文数: 引用数:
h-index:
机构:
[5]
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy
[J].
Indelman, M
;
Bergman, R
;
Lurie, R
;
Richard, G
;
Miller, B
;
Petronius, D
;
Ciubutaro, D
;
Leibu, R
;
Sprecher, E
.
JOURNAL OF INVESTIGATIVE DERMATOLOGY,
2002, 119 (05)
:1210-1213

Indelman, M
论文数: 0 引用数: 0
h-index: 0
机构: Rambam Med Ctr, Dept Dermatol, Haifa, Israel

Bergman, R
论文数: 0 引用数: 0
h-index: 0
机构: Rambam Med Ctr, Dept Dermatol, Haifa, Israel

Lurie, R
论文数: 0 引用数: 0
h-index: 0
机构: Rambam Med Ctr, Dept Dermatol, Haifa, Israel

Richard, G
论文数: 0 引用数: 0
h-index: 0
机构: Rambam Med Ctr, Dept Dermatol, Haifa, Israel

论文数: 引用数:
h-index:
机构:

Petronius, D
论文数: 0 引用数: 0
h-index: 0
机构: Rambam Med Ctr, Dept Dermatol, Haifa, Israel

Ciubutaro, D
论文数: 0 引用数: 0
h-index: 0
机构: Rambam Med Ctr, Dept Dermatol, Haifa, Israel

Leibu, R
论文数: 0 引用数: 0
h-index: 0
机构: Rambam Med Ctr, Dept Dermatol, Haifa, Israel

Sprecher, E
论文数: 0 引用数: 0
h-index: 0
机构:
Rambam Med Ctr, Dept Dermatol, Haifa, Israel Rambam Med Ctr, Dept Dermatol, Haifa, Israel
[6]
The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
[J].
Jahoda, CAB
;
Kljuic, A
;
O'Shaughnessy, R
;
Crossley, N
;
Whitehouse, CJ
;
Robinson, M
;
Reynolds, AJ
;
Demarchez, M
;
Porter, RM
;
Shapiro, L
;
Christiano, AM
.
GENOMICS,
2004, 83 (05)
:747-756

Jahoda, CAB
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Kljuic, A
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

O'Shaughnessy, R
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Crossley, N
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Whitehouse, CJ
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Robinson, M
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Reynolds, AJ
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Demarchez, M
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Porter, RM
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Shapiro, L
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA

Christiano, AM
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY 10032 USA
[7]
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma
[J].
Kljuic, A
;
Gilead, L
;
Martinez-Mir, A
;
Frank, J
;
Christiano, AM
;
Zlotogorski, A
.
EXPERIMENTAL DERMATOLOGY,
2003, 12 (04)
:523-527

Kljuic, A
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Univ Med Ctr, Dept Dermatol, IL-91120 Jerusalem, Israel

Gilead, L
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Univ Med Ctr, Dept Dermatol, IL-91120 Jerusalem, Israel

Martinez-Mir, A
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Univ Med Ctr, Dept Dermatol, IL-91120 Jerusalem, Israel

Frank, J
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Univ Med Ctr, Dept Dermatol, IL-91120 Jerusalem, Israel

Christiano, AM
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Univ Med Ctr, Dept Dermatol, IL-91120 Jerusalem, Israel

Zlotogorski, A
论文数: 0 引用数: 0
h-index: 0
机构: Hadassah Univ Med Ctr, Dept Dermatol, IL-91120 Jerusalem, Israel
[8]
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris
[J].
Kljuic, A
;
Bazzi, H
;
Sundberg, JP
;
Martinez-Mir, A
;
O'Shaughnessy, R
;
Mahoney, MG
;
Levy, M
;
Montagutelli, X
;
Ahmad, W
;
Alta, VM
;
Gordon, D
;
Uitto, J
;
Whiting, D
;
Ott, J
;
Fischer, S
;
Gilliam, TC
;
Jahoda, CAB
;
Morris, RJ
;
Panteleyev, AA
;
Nguyen, VT
;
Christiano, AM
.
CELL,
2003, 113 (02)
:249-260

Kljuic, A
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Bazzi, H
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Sundberg, JP
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Martinez-Mir, A
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

O'Shaughnessy, R
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Mahoney, MG
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Levy, M
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Montagutelli, X
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Ahmad, W
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Alta, VM
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Gordon, D
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Uitto, J
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Whiting, D
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Ott, J
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Fischer, S
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Gilliam, TC
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Jahoda, CAB
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Morris, RJ
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Panteleyev, AA
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Nguyen, VT
论文数: 0 引用数: 0
h-index: 0
机构: Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA

Christiano, AM
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA
[9]
Targeted disruption of the pemphigus vulgaris antigen (Desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris
[J].
Koch, PJ
;
Mahoney, MG
;
Ishikawa, H
;
Pulkkinen, L
;
Uitto, J
;
Shultz, L
;
Murphy, GF
;
WhitakerMenezes, D
;
Stanley, JR
.
JOURNAL OF CELL BIOLOGY,
1997, 137 (05)
:1091-1102

Koch, PJ
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PENN,SCH MED,DEPT DERMATOL,PHILADELPHIA,PA 19104

Mahoney, MG
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PENN,SCH MED,DEPT DERMATOL,PHILADELPHIA,PA 19104

Ishikawa, H
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PENN,SCH MED,DEPT DERMATOL,PHILADELPHIA,PA 19104

Pulkkinen, L
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PENN,SCH MED,DEPT DERMATOL,PHILADELPHIA,PA 19104

Uitto, J
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PENN,SCH MED,DEPT DERMATOL,PHILADELPHIA,PA 19104

Shultz, L
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PENN,SCH MED,DEPT DERMATOL,PHILADELPHIA,PA 19104

Murphy, GF
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PENN,SCH MED,DEPT DERMATOL,PHILADELPHIA,PA 19104

WhitakerMenezes, D
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PENN,SCH MED,DEPT DERMATOL,PHILADELPHIA,PA 19104

Stanley, JR
论文数: 0 引用数: 0
h-index: 0
机构: UNIV PENN,SCH MED,DEPT DERMATOL,PHILADELPHIA,PA 19104
[10]
A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients
[J].
Korge, BP
;
Healy, E
;
Munro, CS
;
Pünter, C
;
Birch-Machin, M
;
Holmes, SC
;
Darlington, S
;
Hamm, H
;
Messenger, AG
;
Rees, JL
;
Traupe, H
.
JOURNAL OF INVESTIGATIVE DERMATOLOGY,
1998, 111 (05)
:896-899

Korge, BP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Cologne, Klin & Poliklin Dermatol & Venerol, D-50924 Cologne, Germany

论文数: 引用数:
h-index:
机构:

Munro, CS
论文数: 0 引用数: 0
h-index: 0
机构: Univ Cologne, Klin & Poliklin Dermatol & Venerol, D-50924 Cologne, Germany

Pünter, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Cologne, Klin & Poliklin Dermatol & Venerol, D-50924 Cologne, Germany

Birch-Machin, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Cologne, Klin & Poliklin Dermatol & Venerol, D-50924 Cologne, Germany

Holmes, SC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Cologne, Klin & Poliklin Dermatol & Venerol, D-50924 Cologne, Germany

Darlington, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Cologne, Klin & Poliklin Dermatol & Venerol, D-50924 Cologne, Germany

Hamm, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Cologne, Klin & Poliklin Dermatol & Venerol, D-50924 Cologne, Germany

Messenger, AG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Cologne, Klin & Poliklin Dermatol & Venerol, D-50924 Cologne, Germany

Rees, JL
论文数: 0 引用数: 0
h-index: 0
机构: Univ Cologne, Klin & Poliklin Dermatol & Venerol, D-50924 Cologne, Germany

Traupe, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Cologne, Klin & Poliklin Dermatol & Venerol, D-50924 Cologne, Germany