Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients

BALACHANDRAN SARANYA; GUNASEKARAN BHAVANI; BRINDHA ARUMUGAM; MEENA JAYASHANKAR; SATHIYAVEDU THYAGARAJAN SANTHIYA

doi:10.1007/s12041-016-0716-0

Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients

Journal of Genetics ◽

10.1007/s12041-016-0716-0 ◽

2016 ◽

Vol 95 (4) ◽

pp. 911-921 ◽

Cited By ~ 2

Author(s):

BALACHANDRAN SARANYA ◽

GUNASEKARAN BHAVANI ◽

BRINDHA ARUMUGAM ◽

MEENA JAYASHANKAR ◽

SATHIYAVEDU THYAGARAJAN SANTHIYA

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Female Patients ◽

Xy Female

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Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs

The Journal of Steroid Biochemistry and Molecular Biology ◽

10.1016/j.jsbmb.2006.06.016 ◽

2006 ◽

Vol 101 (1) ◽

pp. 1-10 ◽

Cited By ~ 7

Author(s):

Ralf Werner ◽

Jenny Schütt ◽

Sabine Hannema ◽

Albrecht Röpke ◽

Peter Wieacker ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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An uncommon large deletion in the androgen-receptor gene in a XY female with complete androgen insensitivity syndrome

Journal of Endocrinological Investigation ◽

10.1007/bf03344130 ◽

2006 ◽

Vol 29 (5) ◽

pp. 457-461

Author(s):

C. Moretti ◽

T. Odorisio ◽

R. Geremia ◽

P. Grimaldi

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Large Deletion ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Xy Female

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A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome

Endokrynologia Polska ◽

10.5603/ep.2013.0023 ◽

2013 ◽

Vol 64 (5) ◽

pp. 398-402 ◽

Cited By ~ 3

Author(s):

Zofia Helszer ◽

Anita Dmochowska ◽

Edyta Borkowska ◽

Hanna Moczulska ◽

Jolanta Słowikowska-Hilczer ◽

...

Keyword(s):

Androgen Receptor ◽

Female Patient ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Xy Female

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Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome

Human Mutation ◽

10.1002/humu.9405 ◽

2006 ◽

Vol 27 (3) ◽

pp. 291-291 ◽

Cited By ~ 9

Author(s):

Jarmo Jääskeläinen ◽

Nigel P. Mongan ◽

Sharon Harland ◽

Ieuan A. Hughes

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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In vitro functional characterization of androgen receptor gene mutations at arginine p.856 of the ligand-binding-domain associated with androgen insensitivity syndrome

The Journal of Steroid Biochemistry and Molecular Biology ◽

10.1016/j.jsbmb.2021.105834 ◽

2021 ◽

Vol 208 ◽

pp. 105834

Author(s):

Asma Tajouri ◽

Maher Kharrat ◽

Mediha Trabelsi ◽

Ridha M’rad ◽

Olaf Hiort ◽

...

Keyword(s):

Androgen Receptor ◽

Ligand Binding ◽

Receptor Gene ◽

Functional Characterization ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome

Human Mutation ◽

10.1002/humu.9221 ◽

2004 ◽

Vol 23 (3) ◽

pp. 287-287 ◽

Cited By ~ 14

Author(s):

Helen E. MacLean ◽

Emma M.A. Ball ◽

Georgia Rekaris ◽

Garry L. Warne ◽

Jeffrey D. Zajac

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations

Journal of Molecular Medicine ◽

10.1007/s00109-005-0704-y ◽

2005 ◽

Vol 83 (12) ◽

pp. 1005-1013 ◽

Cited By ~ 24

Author(s):

P. M. Holterhus ◽

R. Werner ◽

U. Hoppe ◽

J. Bassler ◽

E. Korsch ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Clinical Phenotypes ◽

Molecular Features

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Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome

Human Molecular Genetics ◽

10.1093/hmg/1.7.497 ◽

1992 ◽

Vol 1 (7) ◽

pp. 497-503 ◽

Cited By ~ 75

Author(s):

J. A. Batch ◽

D. M. Williams ◽

H. R. Davies ◽

B. D. Brown ◽

B. A. J. Evans ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations

Fertility and Sterility ◽

10.1016/j.fertnstert.2009.03.057 ◽

2010 ◽

Vol 94 (2) ◽

pp. 472-476 ◽

Cited By ~ 24

Author(s):

Pascal Philibert ◽

Françoise Audran ◽

Catherine Pienkowski ◽

Isabelle Morange ◽

Birgit Kohler ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Stop Codons ◽

Exon 1 ◽

International Collaborative ◽

New Mutations

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Reduced expression and normal nucleotide sequence of androgen receptor gene coding and promoter regions in a family with partial androgen insensitivity syndrome

Clinical Endocrinology ◽

10.1046/j.1365-2265.1997.1250941.x ◽

1997 ◽

Vol 46 (3) ◽

pp. 281-288 ◽

Cited By ~ 4

Author(s):

Catherine S. Choong ◽

Marian J. Sturm ◽

Julie A. Strophair ◽

Ross K. McCulloch ◽

David M. Hurley

Keyword(s):

Androgen Receptor ◽

Nucleotide Sequence ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Promoter Regions ◽

Androgen Insensitivity ◽

Gene Coding ◽

Partial Androgen Insensitivity Syndrome

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