LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome

被引:0
作者
Pozojevic, Jelena [1 ]
Sivaprasad, Radhika [2 ]
Lass, Joshua [3 ]
Haarich, Franziska [4 ]
Trinh, Joanne [3 ]
Kakar, Neseebullah [1 ]
Schulz, Kristin [1 ]
Handler, Kristian [1 ]
Stuart, Annemarie Verrijn [5 ]
Giltay, Jacques C. [6 ]
van Gassen, Koen L. I. [7 ]
Caliebe, Almuth [2 ]
Holterhus, Paul-Martin [8 ]
Spielmann, Malte [1 ]
Hornig, Nadine [2 ]
机构
[1] Inst Human Genet, Lubeck, Germany
[2] Inst Human Genet, Kiel, Germany
[3] Inst Neurogenet, Lubeck, Germany
[4] Inst Cardiogenet, Lubeck, Germany
[5] Dept Pediat Endocrinol, Utrecht, Netherlands
[6] Div Labs, Pharm & Biomed Genet, Utrecht, Netherlands
[7] Dept Genet, Utrecht, Netherlands
[8] Dept Paediat, Div Paediat Endocrinol & Diabet, Kiel, Germany
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
EP02.014
引用
收藏
页码:938 / 938
页数:1
相关论文
共 50 条
  • [41] A hemizygous mutation in the androgen receptor gene causes different phenotypes of androgen insensitivity syndrome in two siblings by disrupting the nuclear translocation
    Liu, Chunjie
    Lyu, Yongfen
    Li, Pin
    MOLECULAR GENETICS AND GENOMICS, 2020, 295 (05) : 1103 - 1111
  • [42] A hemizygous mutation in the androgen receptor gene causes different phenotypes of androgen insensitivity syndrome in two siblings by disrupting the nuclear translocation
    Chunjie Liu
    Yongfen Lyu
    Pin Li
    Molecular Genetics and Genomics, 2020, 295 : 1103 - 1111
  • [43] Title: Mosaic mutation in androgen receptor gene in a patient with partial androgen insensitivity syndrome
    Almatrafi, Mohammed
    Azher, Zohor
    Baazeem, Abdulaziz
    Almarashi, Abdullatif
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 96 - 96
  • [44] Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism
    Konrade, Ilze
    Zavorikina, Julija
    Fridvalde, Aija
    Rots, Dmitrijs
    Kalere, Ieva
    Strumfa, Ilze
    Dambrova, Maija
    Gailite, Linda
    FRONTIERS IN ENDOCRINOLOGY, 2019, 9
  • [45] Apolipoprotein D (APOD) is a putative biomarker of androgen receptor function in androgen insensitivity syndrome
    Appari, Mahesh
    Werner, Ralf
    Wuensch, Lutz
    Cario, Gunnar
    Demeter, Janos
    Hiort, Olaf
    Riepe, Felix
    Brooks, James D.
    Holterhus, Paul-Martin
    JOURNAL OF MOLECULAR MEDICINE-JMM, 2009, 87 (06): : 623 - 632
  • [46] Variable Loss of Functional Activities of Androgen Receptor Mutants in Patients with Androgen Insensitivity Syndrome
    Elfferich, P.
    van Royen, M. E.
    van de Wijngaart, D. J.
    Trapman, J.
    Drop, S. L. S.
    van den Akker, E. L. T.
    Lusher, S. J.
    Bosch, R.
    Bunch, T.
    Hughes, I. A.
    Houtsmuller, A. B.
    Cools, M.
    Faradz, S. M. H.
    Bisschop, P. H.
    Bunck, M. C. M.
    Oostdijk, W.
    Bruggenwirth, H. T.
    Brinkmann, A. O.
    SEXUAL DEVELOPMENT, 2013, 7 (05) : 223 - 234
  • [47] A large deletion of the androgen receptor (AR) gene in a patient with androgen insensitivity syndrome.
    Pohovski, Leona Morozin
    Bobinec, Adriana
    Measic, Ana-Maria
    Odak, Ljubica
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1303 - 1303
  • [48] Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome
    Petroli, Reginaldo J.
    Hiort, Olaf
    Struve, Dagmar
    Gesing, Julia K.
    Soardi, Fernanda C.
    Spinola-Castro, Angela M.
    Melo, Karla
    Arnhold, Ivo J. Prado
    Maciel-Guerra, Andrea T.
    Guerra-Junior, Gil
    Werner, Ralf
    de Mello, Maricilda P.
    SEXUAL DEVELOPMENT, 2017, 11 (5-6) : 238 - 247
  • [49] A UNIQUE POINT MUTATION IN THE ANDROGEN RECEPTOR GENE IN A FAMILY WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME
    SWEET, CR
    BEHZADIAN, MA
    MCDONOUGH, PG
    FERTILITY AND STERILITY, 1992, 58 (04) : 703 - 707
  • [50] Molecular Analysis of Androgen Receptor Gene in a Cohort of Brazilian Patients with Androgen Insensitivity Syndrome
    Batista, R. L.
    Andresa, D. S. R.
    Arnhold, I. J. P.
    Cunha, F. S.
    Lisboa, N. G.
    Faria Junior, J. A. D.
    Costa, E. M. F.
    Domenice, S.
    Mendonca, B. B.
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 39 - 39