Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism

被引:25
作者
Marin, P [1 ]
Ferlin, A [1 ]
Moro, E [1 ]
Rossi, A [1 ]
Bartoloni, L [1 ]
Rossato, M [1 ]
Foresta, C [1 ]
机构
[1] Univ Padua, Dept Med & Surg Sci, Clin Med 3, I-35128 Padua, Italy
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 103卷 / 04期
关键词
D O I
10.1002/ajmg.1579
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:348 / 349
页数:2
相关论文
共 11 条
[1]  
ADHAM IM, 1993, J BIOL CHEM, V268, P26668
[2]   Specific, high affinity relaxin-like factor receptors [J].
Büllesbach, EE ;
Schwabe, C .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (32) :22354-22358
[3]   STRUCTURAL ORGANIZATION OF THE PORCINE AND HUMAN GENES-CODING FOR A LEYDIG CELL-SPECIFIC INSULIN-LIKE PEPTIDE (LEY I-L) AND CHROMOSOMAL LOCALIZATION OF THE HUMAN GENE (INSL3) [J].
BURKHARDT, E ;
ADHAM, IM ;
BROSIG, B ;
GASTMANN, A ;
MATTEI, MG ;
ENGEL, W .
GENOMICS, 1994, 20 (01) :13-19
[4]   A common polymorphism in the human relaxin-like factor (RLF) gene:: No relationship with cryptorchidism [J].
Koskimies, P ;
Virtanen, H ;
Lindström, M ;
Kaleva, M ;
Poutanen, M ;
Huhtaniemi, I ;
Toppari, J .
PEDIATRIC RESEARCH, 2000, 47 (04) :538-541
[5]   Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism [J].
Krausz, C ;
Quintana-Murci, L ;
Fellous, M ;
Siffroi, JP ;
McElreavey, K .
MOLECULAR HUMAN REPRODUCTION, 2000, 6 (04) :298-302
[6]   Genetic analysis of the INSL3 gene in patients with maldescent of the testis [J].
Lim, HN ;
Rajpert-De Meyts, E ;
Skakkebæk, NE ;
Hawkins, JR ;
Hughes, IA .
EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2001, 144 (02) :129-137
[7]   Different insulin-like 3 (INSL3) gene mutations not associated with human cryptorchidism [J].
Marin, P ;
Ferlin, A ;
Moro, E ;
Garolla, A ;
Foresta, C .
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2001, 24 (04) :RC13-RC15
[8]   Cryptorchidism in mice mutant for Insl3 [J].
Nef, S ;
Parada, LF .
NATURE GENETICS, 1999, 22 (03) :295-299
[9]   Ala/Thr60 variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population [J].
Takahashi, T ;
Takahashi, I ;
Komatsu, M ;
Matsuda, J ;
Takada, G .
PEDIATRICS INTERNATIONAL, 2001, 43 (03) :256-258
[10]   Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism [J].
Tomboc, M ;
Lee, PA ;
Mitwally, MF ;
Schneck, FX ;
Bellinger, M ;
Witchel, SF .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (11) :4013-4018