Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism

被引：21

作者：

Murakami, T

Hosomi, N

Oiso, N

Giovannucci-Uzielli, ML

Aquaron, R

Mizoguchi, M

Kato, A

Ishii, M

Bitner-Glindzicz, M

Barnicoat, A

Wilson, L

Tsukamoto, K

Ueda, H

Mancini, AJ

Suzuki, T

Riley, J

Miertus, J

Camargo, M

Santoro-Zea, A

Atkin, J

Fukai, K

机构：

[1] Osaka City Univ, Grad Sch Med, Dept Dermatol, Abeno Ku, Osaka 5458585, Japan

[2] Izumi Municipal Hosp, Dept Dermatol, Izumi, Japan

[3] Saiseikai Tondabayashi Hosp, Dept Dermatol, Tondabayashi, Japan

[4] Univ Florence, Genet & Mol Med Unit, Florence, Italy

[5] Univ Mediterranee, Dept Biochim, Marseille, France

[6] St Marianna Univ, Sch Med, Dept Dermatol, Kawasaki, Kanagawa 213, Japan

[7] Inst Child Hlth, Clin & Mol Genet Unit, London, England

[8] Yamanashi Prefectural Cent Hosp, Dept Dermatol, Kofu, Yamanashi, Japan

[9] Fujita Hlth Univ, Sch Med, Dept Dermatol, Toyoake, Aichi 47011, Japan

[10] Northwestern Univ, Dept Dermatol, Chicago, IL 60611 USA

[11] Nagoya Univ, Grad Sch Med, Dept Dermatol, Nagoya, Aichi, Japan

[12] Spectrum Hlth, Grand Rapids, MI USA

[13] Int Ctr Genet Engn & Biotechnol, I-34012 Trieste, Italy

[14] Univ Antiquia, Genet Biol Inst, Medellin, Colombia

[15] Childrens Hosp, Reg Genet Ctr, Columbus, OH 43205 USA

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2005年 / 124卷 / 03期

关键词：

D O I：

10.1111/j.0022-202X.2005.23637.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：670 / 672

页数：3

共 14 条

[1] THE PROTO-ONCOGENE C-KIT ENCODING A TRANSMEMBRANE TYROSINE KINASE RECEPTOR MAPS TO THE MOUSE W-LOCUS [J].

CHABOT, B ;

STEPHENSON, DA ;

CHAPMAN, VM ;

BESMER, P ;

BERNSTEIN, A .

NATURE, 1988, 335 (6185) :88-89

[2]

EZOE K, 1995, AM J HUM GENET, V56, P58

[3] Mutations in the ligand-binding domain of the kit receptor: An uncommon site in human piebaldism [J].

Fleischman, RA ;

Gallardo, T ;

Mi, XF .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 107 (05) :703-706

[4] DELETION OF THE C-KIT PROTOONCOGENE IN THE HUMAN DEVELOPMENTAL DEFECT PIEBALD TRAIT [J].

FLEISCHMAN, RA ;

SALTMAN, DL ;

STASTNY, V ;

ZNEIMER, S .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (23) :10885-10889

[5]

FUKAI K, 1989, ACTA DERM-VENEREOL, V69, P524

[6] THE DOMINANT-WHITE SPOTTING (W) LOCUS OF THE MOUSE ENCODES THE C-KIT PROTO-ONCOGENE [J].

GEISSLER, EN ;

RYAN, MA ;

HOUSMAN, DE .

CELL, 1988, 55 (01) :185-192

[7]

GIEBEL LB, 1992, ONCOGENE, V7, P2207

[8] Structure of a c-Kit product complex reveals the basis for kinase transactivation [J].

Mol, CD ;

Lim, KB ;

Sridhar, V ;

Zou, H ;

Chien, EYT ;

Sang, BC ;

Nowakowski, J ;

Kassel, DB ;

Cronin, CN ;

McRee, DE .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (34) :31461-31464

[9] New KIT mutations in patients with piebaldism [J].

Murakami, T ;

Fukai, K ;

Oiso, N ;

Hosomi, N ;

Kato, A ;

Garganta, C ;

Barnicoat, A ;

Poppelaars, F ;

Aquaron, R ;

Paller, AS ;

Ishii, M .

JOURNAL OF DERMATOLOGICAL SCIENCE, 2004, 35 (01) :29-33

[10] A novel KIT mutation results in piebaldism with progressive depigmentation [J].

Richards, KA ;

Fukai, K ;

Oiso, N ;

Paller, AS .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2001, 44 (02) :288-292

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