MISSENSE MUTATIONS IN EXON-10 AND EXON-11 OF THE HUMAN LUTEINIZING-HORMONE RECEPTOR GENE ARE ASSOCIATED WITH LEYDIG-CELL HYPOPLASIA

被引:0
|
作者
LAUE, L
WU, SM
KUDO, M
HSUEH, AJW
CUTLER, GB
CHAN, WY
机构
[1] GEORGETOWN UNIV,DEPT PEDIAT CELL BIOL & BIOCHEM,WASHINGTON,DC
[2] STANFORD UNIV,DEPT OBSTET & GYNECOL,STANFORD,CA 94305
[3] NICHHD,DEB,BETHESDA,MD
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1252 / 1252
页数:1
相关论文
共 40 条
  • [1] A NONSENSE MUTATION OF THE HUMAN LUTEINIZING-HORMONE RECEPTOR GENE IN LEYDIG-CELL HYPOPLASIA
    LAUE, L
    WU, SM
    KUDO, M
    HSUEH, AJW
    CUTLER, GB
    GRIFFIN, JE
    WILSON, JD
    BRAIN, C
    BERRY, AC
    GRANT, DB
    CHAN, WY
    HUMAN MOLECULAR GENETICS, 1995, 4 (08) : 1429 - 1433
  • [2] HYPOGONADISM AND LEYDIG-CELL HYPOPLASIA UNRESPONSIVE TO HUMAN LUTEINIZING-HORMONE (HLH)
    WU, RHK
    ROSENFELD, R
    FUKUSHIMA, D
    AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 1984, 287 (03): : 23 - 25
  • [3] DIFFERENTIAL EXPRESSION OF EXON-10 AND EXON-11 IN NORMAL TAU AND TAU ASSOCIATED WITH PAIRED HELICAL FILAMENTS
    KSIEZAKREDING, H
    SHAFITZAGARDO, B
    YEN, SH
    JOURNAL OF NEUROSCIENCE RESEARCH, 1995, 41 (05) : 583 - 593
  • [4] PURIFICATION AND CHARACTERIZATION OF LEYDIG-CELL LUTEINIZING-HORMONE RECEPTOR
    MINEGISHI, T
    KUSUDA, S
    DUFAU, ML
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1987, 262 (35) : 17138 - 17143
  • [5] Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia
    Laue, LL
    Wu, SM
    Kudo, M
    Bourdony, CJ
    Cutler, GB
    Hsueh, AJW
    Chan, WY
    MOLECULAR ENDOCRINOLOGY, 1996, 10 (08) : 987 - 997
  • [6] DIFFERENTIAL EXPRESSION OF EXON-10 AND EXON-11 IN NORMAL-TAU AND TAU-ASSOCIATED WITH PAIRED HELICAL FILAMENTS (PHF)
    KSIEZAKREDING, H
    KENESSEY, A
    LIU, WK
    YEN, SH
    MOLECULAR BIOLOGY OF THE CELL, 1992, 3 : A165 - A165
  • [7] MALE PSEUDOHERMAPHRODITISM - TESTICULAR RESPONSE TO HUMAN CHORIONIC-GONADOTROPIN AND LUTEINIZING-HORMONE (LEYDIG-CELL AGENESIS OR HYPOPLASIA)
    KATZ, E
    DAMEWOOD, MD
    SEMINARS IN REPRODUCTIVE ENDOCRINOLOGY, 1987, 5 (03): : 277 - 281
  • [8] INCREASE IN TESTIS LUTEINIZING-HORMONE RECEPTOR BY ESTROGEN IN MICE SUSCEPTIBLE TO LEYDIG-CELL TUMORS
    NAVICKIS, RJ
    SHIMKIN, MB
    HSUEH, AJW
    CANCER RESEARCH, 1981, 41 (05) : 1646 - 1651
  • [9] Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene
    Richter-Unruh, A
    Martens, JWM
    Verhoef-Post, M
    Wessels, HT
    Kors, WA
    Sinnecker, GHG
    Boehmer, A
    Drop, SLS
    Toledo, SPA
    Brunner, HG
    Themmen, APN
    CLINICAL ENDOCRINOLOGY, 2002, 56 (01) : 103 - 112
  • [10] Mutations in a novel primate-specific cryptic exon of the LHCGR gene cause Leydig cell hypoplasia
    Kossack, N.
    Simoni, M.
    Richter-Unruh, A.
    EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2007, 115 : S12 - S12