Autosomal recessive isolated familial acanthosis nigricans in a Pakistani family due to a homozygous mutation in the insulin receptor gene

被引：6

作者：

Ahmad, S. ^{[1
]}

Mahmoudi, H. ^{[2
]}

Naeem, M. ^{[1
]}

Betz, R. C. ^{[2
]}

机构：

[1] Quaid I Azam Univ, Dept Biotechnol, Islamabad 45320, Pakistan

[2] Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2013年 / 169卷 / 02期

关键词：

D O I：

10.1111/bjd.12293

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：476 / 478

页数：3

共 9 条

[1] Familial acanthosis nigricans due to K650T FGFR3 mutation [J].

Berk, David R. ;

Spector, Elaine B. ;

Bayliss, Susan J. .

ARCHIVES OF DERMATOLOGY, 2007, 143 (09) :1153-1156

[2] SUBSTITUTION OF LEU FOR PRO-193 IN THE INSULIN-RECEPTOR IN A PATIENT WITH A GENETIC FORM OF SEVERE INSULIN-RESISTANCE [J].

CARRERA, P ;

CORDERA, R ;

FERRARI, M ;

CREMONESI, L ;

TARAMELLI, R ;

ANDRAGHETTI, G ;

CARDUCCI, C ;

DOZIO, N ;

POZZA, G ;

TAYLOR, SI ;

MICOSSI, P ;

BARBETTI, F .

HUMAN MOLECULAR GENETICS, 1993, 2 (09) :1437-1441

[3] BENIGN ACANTHOSIS NIGRICANS [J].

CURTH, HO .

ARCHIVES OF DERMATOLOGY, 1967, 96 (05) :603-&

[4] SIGNIFICANCE OF ACANTHOSIS NIGRICANS [J].

CURTH, HO .

AMA ARCHIVES OF DERMATOLOGY AND SYPHILOLOGY, 1952, 66 (01) :80-100

[5] Familial acanthosis nigricans [J].

Dhar, S ;

Dawn, G ;

Kanwar, AJ ;

Nada, R .

INTERNATIONAL JOURNAL OF DERMATOLOGY, 1996, 35 (02) :126-127

[6] HomozygosityMapper-an interactive approach to homozygosity mapping [J].

Seelow, Dominik ;

Schuelke, Markus ;

Hildebrandt, Friedhelm ;

Nuernberg, Peter .

NUCLEIC ACIDS RESEARCH, 2009, 37 :W593-W599

[7] STRUCTURE OF THE HUMAN INSULIN-RECEPTOR GENE AND CHARACTERIZATION OF ITS PROMOTER [J].

SEINO, S ;

SEINO, M ;

NISHI, S ;

BELL, GI .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (01) :114-118

[8] Genes, growth factors and acanthosis nigricans [J].

Torley, D ;

Bellus, GA ;

Munro, CS .

BRITISH JOURNAL OF DERMATOLOGY, 2002, 147 (06) :1096-1101

[9] HUMAN INSULIN-RECEPTOR AND ITS RELATIONSHIP TO THE TYROSINE KINASE FAMILY OF ONCOGENES [J].

ULLRICH, A ;

BELL, JR ;

CHEN, EY ;

HERRERA, R ;

PETRUZZELLI, LM ;

DULL, TJ ;

GRAY, A ;

COUSSENS, L ;

LIAO, YC ;

TSUBOKAWA, M ;

MASON, A ;

SEEBURG, PH ;

GRUNFELD, C ;

ROSEN, OM ;

RAMACHANDRAN, J .

NATURE, 1985, 313 (6005) :756-761

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