Literature DB >> 16388114

Reflections on the diseases linked to mutations of the androgen receptor.

Angelo Poletti1, Paola Negri-Cesi, Luciano Martini.   

Abstract

This review summarizes the most recent information on two pathologies linked to mutations of the androgen receptor, namely, the complete androgen insensitivity syndrome (CAIS) and the spinal and bulbar muscular atrophy (SBMA or Kennedy's disease). Data on the clinical manifestations of the two diseases are presented, together with the most relevant findings on their physiopathology and genetics.

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Year:  2005        PMID： 16388114     DOI： 10.1385/ENDO:28:3:243

Source DB:  PubMed          Journal:  Endocrine        ISSN： 1355-008X            Impact factor:   3.925


  234 in total

1.  Dynamics of intracellular movement and nucleocytoplasmic recycling of the ligand-activated androgen receptor in living cells.

Authors:  R K Tyagi; Y Lavrovsky; S C Ahn; C S Song; B Chatterjee; A K Roy
Journal:  Mol Endocrinol       Date:  2000-08

2.  Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome.

Authors:  C L Bevan; I A Hughes; M N Patterson
Journal:  J Steroid Biochem Mol Biol       Date:  1997-04       Impact factor: 4.292

3.  A single base deletion in the Tfm androgen receptor gene creates a short-lived messenger RNA that directs internal translation initiation.

Authors:  M L Gaspar; T Meo; P Bourgarel; J L Guenet; M Tosi
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

4.  Codistribution of the dopamine D3 receptor and glucocorticoid receptor mRNAs during striatal prenatal development in the rat.

Authors:  R Diaz; P Sokoloff; K Fuxe
Journal:  Neurosci Lett       Date:  1997-05-16       Impact factor: 3.046

5.  Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients.

Authors:  Hiroaki Adachi; Masahisa Katsuno; Makoto Minamiyama; Masahiro Waza; Chen Sang; Yuji Nakagomi; Yasushi Kobayashi; Fumiaki Tanaka; Manabu Doyu; Akira Inukai; Mari Yoshida; Yoshio Hashizume; Gen Sobue
Journal:  Brain       Date:  2005-01-19       Impact factor: 13.501

6.  Three different promoters control expression of the aromatase cytochrome p450 gene (cyp19) in mouse gonads and brain.

Authors:  Konstantin Golovine; Manfred Schwerin; Jens Vanselow
Journal:  Biol Reprod       Date:  2003-03       Impact factor: 4.285

7.  Anti-müllerian hormone in children with androgen insensitivity.

Authors:  R Rey; F Mebarki; M G Forest; I Mowszowicz; R L Cate; Y Morel; J L Chaussain; N Josso
Journal:  J Clin Endocrinol Metab       Date:  1994-10       Impact factor: 5.958

8.  Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.

Authors:  A Nordenskjöld; O Magnus; O Aagenaes; J Knudtzon
Journal:  Am J Med Genet       Date:  1998-11-16

9.  Timing and duration of dihydrotestosterone treatment affect the development of motoneuron number and morphology in a sexually dimorphic rat spinal nucleus.

Authors:  L A Goldstein; D R Sengelaub
Journal:  J Comp Neurol       Date:  1992-12-01       Impact factor: 3.215

10.  Steroid binding at sigma receptors suggests a link between endocrine, nervous, and immune systems.

Authors:  T P Su; E D London; J H Jaffe
Journal:  Science       Date:  1988-04-08       Impact factor: 47.728
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  7 in total

Review 1.  [Disorders of sex development and proximal hypospadias].

Authors:  J Oswald
Journal:  Urologe A       Date:  2016-01       Impact factor: 0.639

Review 2.  Androgen regulation of axon growth and neurite extension in motoneurons.

Authors:  Keith N Fargo; Mariarita Galbiati; Eileen M Foecking; Angelo Poletti; Kathryn J Jones
Journal:  Horm Behav       Date:  2008-02-15       Impact factor: 3.587

Review 3.  The genetics of sex differences in brain and behavior.

Authors:  Tuck C Ngun; Negar Ghahramani; Francisco J Sánchez; Sven Bocklandt; Eric Vilain
Journal:  Front Neuroendocrinol       Date:  2010-10-15       Impact factor: 8.606

Review 4.  The Role of the Protein Quality Control System in SBMA.

Authors:  Paola Rusmini; Valeria Crippa; Riccardo Cristofani; Carlo Rinaldi; Maria Elena Cicardi; Mariarita Galbiati; Serena Carra; Bilal Malik; Linda Greensmith; Angelo Poletti
Journal:  J Mol Neurosci       Date:  2015-11-14       Impact factor: 3.444

5.  CHIP overexpression reduces mutant androgen receptor protein and ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model.

Authors:  Hiroaki Adachi; Masahiro Waza; Keisuke Tokui; Masahisa Katsuno; Makoto Minamiyama; Fumiaki Tanaka; Manabu Doyu; Gen Sobue
Journal:  J Neurosci       Date:  2007-05-09       Impact factor: 6.167

6.  Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy.

Authors:  Nisha M Badders; Ane Korff; Helen C Miranda; Pradeep K Vuppala; Rebecca B Smith; Brett J Winborn; Emmanuelle R Quemin; Bryce L Sopher; Jennifer Dearman; James Messing; Nam Chul Kim; Jennifer Moore; Brian D Freibaum; Anderson P Kanagaraj; Baochang Fan; Heather Tillman; Ping-Chung Chen; Yingzhe Wang; Burgess B Freeman; Yimei Li; Hong Joo Kim; Albert R La Spada; J Paul Taylor
Journal:  Nat Med       Date:  2018-03-05       Impact factor: 53.440

7.  Mitochondrial abnormalities in spinal and bulbar muscular atrophy.

Authors:  Srikanth Ranganathan; George G Harmison; Kristin Meyertholen; Maria Pennuto; Barrington G Burnett; Kenneth H Fischbeck
Journal:  Hum Mol Genet       Date:  2008-09-29       Impact factor: 6.150
  7 in total

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