A case of Aromatase deficiency due to a novel CYP19A1 mutation

被引:0
|
作者
Lucia Gagliardi
Hamish S Scott
Jinghua Feng
David J Torpy
机构
[1] Royal Adelaide Hospital,Endocrine and Metabolic Unit
[2] North Terrace,Department of Genetics and Molecular Pathology
[3] Centre for Cancer Biology,School of Medicine
[4] SA Pathology,Cancer Genomics Facility
[5] University of Adelaide,School of Molecular and Biomedical Science
[6] Centre for Cancer Biology,Division of Health Sciences, School of Pharmacy and Medical Sciences
[7] SA Pathology,undefined
[8] University of Adelaide,undefined
[9] University of South Australia,undefined
来源
关键词
Aromatase deficiency; Pubertal development; Streak ovaries; Androgens;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [41] SIRT1 Positively Regulates Breast Cancer Associated Human Aromatase (CYP19A1) Expression
    Holloway, Kimberly R.
    Barbieri, Andreia
    Malyarchuk, Svitlana
    Saxena, Madhurima
    Nedeljkovic-Kurepa, Ana
    Mehl, Mathieu Cameron
    Wang, Allison
    Gu, Xin
    Pruitt, Kevin
    [J]. MOLECULAR ENDOCRINOLOGY, 2013, 27 (03) : 480 - 490
  • [42] In silico analysis of nsSNPs in CYP19A1 gene affecting breast cancer associated aromatase enzyme
    Pavithran, Honey
    Kumavath, Ranjith
    [J]. JOURNAL OF GENETICS, 2021, 100 (02)
  • [43] Aromatase (CYP19A1) gene variants, sex steroid levels, and late-life depression
    Ancelin, Marie-Laure
    Norton, Joanna
    Canonico, Marianne
    Scarabin, Pierre-Yves
    Ritchie, Karen
    Ryan, Joanne
    [J]. DEPRESSION AND ANXIETY, 2020, 37 (02) : 146 - 155
  • [44] In silico analysis of nsSNPs in CYP19A1 gene affecting breast cancer associated aromatase enzyme
    Honey Pavithran
    Ranjith Kumavath
    [J]. Journal of Genetics, 2021, 100
  • [45] P450 Aromatase gene (CYP19A1) is associated with tumor growth and metastasis in NSCLC
    Owada, Ryuji
    Yazawa, Rima
    Nakajima, Rina
    Fujieda, Michiru
    Tanaka, Kazumi
    Ohtaki, Yoichi
    Nakazawa, Seshiru
    Obayashi, Kai
    Kaira, Kyoichi
    Oyama, Tetsunari
    Shimizu, Kimihiro
    Shirabe, Ken
    Rokudai, Susumu
    [J]. CANCER SCIENCE, 2023, 114 : 1116 - 1116
  • [46] Association of functional polymorphisms in CYP19A1 with aromatase inhibitor associated arthralgia in breast cancer survivors
    Mao, Jun J.
    Su, H. Irene
    Feng, Rui
    Donelson, Michelle L.
    Aplenc, Richard
    Rebbeck, Timothy R.
    Stanczyk, Frank
    DeMichele, Angela
    [J]. BREAST CANCER RESEARCH, 2011, 13 (01):
  • [47] BACULOVIRUS-MEDIATED HIGH-LEVEL EXPRESSION OF HUMAN PLACENTAL AROMATASE (CYP19A1)
    SIGLE, RO
    TITUS, MA
    HARADA, N
    NELSON, SD
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1994, 201 (02) : 694 - 700
  • [48] Local aromatase excess with recruitment of unusual promoters of CYP19A1 gene in prepubertal patients with gynecomastia
    Deberles, Emilie
    Durand, Isabelle
    Mittre, Herve
    Reznik, Yves
    Morera, Julia
    [J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022, 35 (07): : 924 - 930
  • [49] RESEARCH ON AROMATASE GENE (CYP19A1) POLYMORPHISMS AS A PREDICTOR OF ENDOCRINE THERAPY EFFECTIVENESS IN BREAST CANCER
    Miron, L.
    Negura, L.
    Peptanariu, D.
    Marinca, M.
    [J]. MEDICAL-SURGICAL JOURNAL-REVISTA MEDICO-CHIRURGICALA, 2012, 116 (04): : 997 - 1004
  • [50] Aromatase gene (CYP19A1) variants, female infertility and ovarian stimulation outcome: a preliminary report
    Altmaee, Signe
    Haller, Kadri
    Peters, Maire
    Saare, Merli
    Hovatta, Outi
    Stavreus-Evers, Anneli
    Velthut, Agne
    Karro, Helle
    Metspalu, Andres
    Salumets, Andres
    [J]. REPRODUCTIVE BIOMEDICINE ONLINE, 2009, 18 (05) : 651 - 657