A dominant-negative mutation of the growth hormone receptor causes familial short stature

被引:172
|
作者
Ayling, RM
Ross, R
Towner, P
VonLaue, S
Finidori, J
Moutoussamy, S
Buchanan, CR
Clayton, PE
Norman, MR
机构
[1] UNIV BRISTOL,DEPT MED,BRISTOL BS2 8HW,AVON,ENGLAND
[2] UNIV MANCHESTER,DEPT CHILD HLTH,MANCHESTER,LANCS,ENGLAND
[3] FAC MED NECKER ENFANTS MALAD,INSERM,U344,PARIS,FRANCE
[4] UNIV LONDON KINGS COLL,SCH MED & DENT,DEPT CLIN BIOCHEM,LONDON WC2R 2LS,ENGLAND
[5] UNIV LONDON KINGS COLL,SCH MED & DENT,DEPT MOL MED,LONDON WC2R 2LS,ENGLAND
[6] UNIV LONDON KINGS COLL,SCH MED & DENT,DEPT CHILD HLTH,LONDON WC2R 2LS,ENGLAND
[7] UNIV SHEFFIELD,CTR CLIN SCI,DEPT MED,SHEFFIELD S10 2TN,S YORKSHIRE,ENGLAND
关键词
D O I
10.1038/ng0597-13
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:13 / 14
页数:2
相关论文
共 50 条
  • [1] A dominant-negative mutation of the growth hormone receptor causes familial short stature
    Ruth M. Ayling
    Richard Ross
    Paul Towner
    Sigward Von Laue
    Joëlle Finidori
    Soraya Moutoussamy
    Charles R. Buchanan
    Peter E. Clayton
    Michael R. Norman
    Nature Genetics, 1997, 16 : 13 - 14
  • [2] Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature
    Andrews, Afiya
    Cottrell, Emily
    Maharaj, Avinaash
    Ladha, Tasneem
    Williams, Jack
    Schilbach, Katharina
    Kaisinger, Lena R.
    Perry, John R. B.
    Metherell, Louise A.
    McCormick, Peter J.
    Storr, Helen L.
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2023, 188 (04) : 353 - 365
  • [3] Familial short stature due to a heterozygous mutation in the growth hormone receptor.
    Sanchez, JE
    Perera, E
    Cleveland, W
    Baumbach, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A345 - A345
  • [4] Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation
    Kawashima, Yuki
    Hakuno, Fumihiko
    Okada, Shin-ichi
    Hotsubo, Tomoyuki
    Kinoshita, Tomoe
    Fujimoto, Masanobu
    Nishimura, Rei
    Fukushima, Toshiaki
    Hanaki, Keiichi
    Takahashi, Shin-Ichiro
    Kanzaki, Susumu
    CLINICAL ENDOCRINOLOGY, 2014, 81 (02) : 312 - 314
  • [5] A Clinical Trial of High-Dose Growth Hormone in a Patient With a Dominant-Negative Growth Hormone Receptor Mutation
    Merchant, Nadia
    Houchin, Lisa
    Boucher, Kimberly
    Dauber, Andrew
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2024, 109 (11): : 2937 - 2942
  • [6] New growth hormone receptor exon 9 mutation causes genetic short stature
    Ayling, RM
    Ross, RJM
    Towner, P
    Von Laue, S
    Finidori, J
    Moutoussamy, S
    Buchanan, CR
    Clayton, PE
    Norman, MR
    ACTA PAEDIATRICA, 1999, 88 : 168 - 172
  • [7] New growth hormone receptor exon 9 mutation causes genetic short stature - Discussion
    Underwood, L
    Norman, M
    ACTA PAEDIATRICA, 1999, 88 : 173 - 173
  • [8] Mutation of Growth Hormone Receptor in Children with Idiopathic Short Stature
    Guevarra, Frances M.
    New, Maria I.
    MOUNT SINAI JOURNAL OF MEDICINE, 2008, 75 (06): : 556 - 557
  • [9] A RECURRING DOMINANT-NEGATIVE MUTATION CAUSES AUTOSOMAL-DOMINANT GROWTH-HORMONE DEFICIENCY - A CLINICAL RESEARCH-CENTER STUDY
    COGAN, JD
    RAMEL, B
    LEHTO, M
    PHILLIPS, J
    PRINCE, M
    BLIZZARD, RM
    DERAVEL, TJL
    BRAMMERT, M
    GROOP, L
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1995, 80 (12): : 3591 - 3595
  • [10] Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
    Klammt, Juergen
    Neumann, David
    Gevers, Evelien F.
    Andrew, Shayne F.
    Schwartz, I. David
    Rockstroh, Denise
    Colombo, Roberto
    Sanchez, Marco A.
    Vokurkova, Doris
    Kowalczyk, Julia
    Metherell, Louise A.
    Rosenfeld, Ron G.
    Pfaeffle, Roland
    Dattani, Mehul T.
    Dauber, Andrew
    Hwa, Vivian
    NATURE COMMUNICATIONS, 2018, 9