Literature DB >> 33505695

Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine.

Dmytro Sirokha1, Olexandra Gorodna1, Dmytro Lozhko1, Ganna Livshyts1, Nataliya Zelinska2, Liudmyla Livshits1.   

Abstract

To improve diagnostic informativity of AR gene mutation analysis in patients with AIS, we recommend to include novel identified missense mutation c.2507T>G in the list of AIS-causing mutations.
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Entities:  

Keywords:  androgen insensitivity syndrome; androgen receptor; bioinformatics; ligand binding domain; pathogenic mutation

Year:  2020        PMID： 33505695      PMCID： PMC7813113          DOI： 10.1002/ccr3.3566

Source DB:  PubMed          Journal:  Clin Case Rep        ISSN： 2050-0904


  27 in total

1.  UCSF Chimera--a visualization system for exploratory research and analysis.

Authors:  Eric F Pettersen; Thomas D Goddard; Conrad C Huang; Gregory S Couch; Daniel M Greenblatt; Elaine C Meng; Thomas E Ferrin
Journal:  J Comput Chem       Date:  2004-10       Impact factor: 3.376

2.  STRUM: structure-based prediction of protein stability changes upon single-point mutation.

Authors:  Lijun Quan; Qiang Lv; Yang Zhang
Journal:  Bioinformatics       Date:  2016-06-17       Impact factor: 6.937

Review 3.  Mutations of androgen receptor gene in androgen insensitivity syndromes.

Authors:  C Sultan; S Lumbroso; N Poujol; C Belon; C Boudon; J M Lobaccaro
Journal:  J Steroid Biochem Mol Biol       Date:  1993-11       Impact factor: 4.292

4.  A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants.

Authors:  O J Hellwinkel; P M Holterhus; D Struve; C Marschke; N Homburg; O Hiort
Journal:  J Clin Endocrinol Metab       Date:  2001-06       Impact factor: 5.958

5.  The androgen receptor gene mutations database: 2012 update.

Authors:  Bruce Gottlieb; Lenore K Beitel; Abbesha Nadarajah; Miltiadis Paliouras; Mark Trifiro
Journal:  Hum Mutat       Date:  2012-03-13       Impact factor: 4.878

6.  Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.

Authors:  P T Saunders; T Padayachi; D G Tincello; S M Shalet; F C Wu
Journal:  Clin Endocrinol (Oxf)       Date:  1992-09       Impact factor: 3.478

Review 7.  Complete androgen insensitivity syndrome--a review.

Authors:  Meghan B Oakes; Aimee D Eyvazzadeh; Elisabeth Quint; Yolanda R Smith
Journal:  J Pediatr Adolesc Gynecol       Date:  2008-12       Impact factor: 1.814

8.  Structure of the homodimeric androgen receptor ligand-binding domain.

Authors:  Marta Nadal; Stefan Prekovic; Nerea Gallastegui; Christine Helsen; Montserrat Abella; Karolina Zielinska; Marina Gay; Marta Vilaseca; Marta Taulès; Adriaan B Houtsmuller; Martin E van Royen; Frank Claessens; Pablo Fuentes-Prior; Eva Estébanez-Perpiñá
Journal:  Nat Commun       Date:  2017-02-06       Impact factor: 14.919

9.  Ligand induced dissociation of the AR homodimer precedes AR monomer translocation to the nucleus.

Authors:  Ryota Shizu; Kosuke Yokobori; Lalith Perera; Lee Pedersen; Masahiko Negishi
Journal:  Sci Rep       Date:  2019-11-13       Impact factor: 4.379

10.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Authors:  François-Olivier Desmet; Dalil Hamroun; Marine Lalande; Gwenaëlle Collod-Béroud; Mireille Claustres; Christophe Béroud
Journal:  Nucleic Acids Res       Date:  2009-04-01       Impact factor: 16.971
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