Evidence map›Paper›PMID 20011049›Full record

ArticlePloS one2009

Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine.

Adam T Szafran, Sean Hartig, Huiying Sun, Ivan P Uray, Maria Szwarc, Yuqing Shen, Sanjay N Mediwala, Jennifer Bell, Michael J McPhaul, Michael A Mancini and 1 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.7field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 22 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. High-content drug screening for rare diseases.Journal of inherited metabolic disease · 2017
    Review
  5. A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.American journal of medical genetics. Part C, Seminars in medical genetics · 2017
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Automated microscopy and image analysis for androgen receptor function.Methods in molecular biology (Clifton, N.J.) · 2011
    Article
  12. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 1 country.

Adam T SzafranDepartment of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas, United States of America.
Sean Hartig
Huiying Sun
Ivan P Uray
Maria Szwarc
Yuqing Shen
Sanjay N Mediwala
Jennifer Bell
Michael J McPhaul
Michael A Mancini
Marco Marcelli
Baylor College of Medicine · USMichael E. DeBakey VA Medical Center · USThe University of Texas Southwestern Medical Center · US

Funding

Tumor BiologyP30CA125123 · NCI · BAYLOR COLLEGE OF MEDICINE · PI DAVID R ROWLEY · 2007 to 2026
$73.9M
Tissue Analysis & Molecular Imaging CoreP30DK056338 · NIDDK · BAYLOR COLLEGE OF MEDICINE · PI Geoffrey A Preidis · 2001 to 2026
$28.3M
TRANSGENIC MOUSE MODELS TO STUDY OVARIAN FUNCTIONU54HD007495 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI RICHARDS, JOANNE STEWART · 1998 to 2013
$19.9M
STEROID RECEPTOR FUNCTION AND NUCLEAR ORGANIZATIONR01DK055622 · NIDDK · BAYLOR COLLEGE OF MEDICINE · PI MANCINI, MICHAEL A · 1999 to 2007
$2.1M
NCI NIH HHS P30 CA125123NICHD NIH HHS U54 HD007495NICHD NIH HHS U54 HD-07495NIDDK NIH HHS P30 DK056338NIDDK NIH HHS P30 DK56338NIDDK NIH HHS R01 DK055622NIDDK NIH HHS R01 DK-55622
6 · The paper itself

Abstract

Androgen insensitivity syndrome (AIS) is a rare disease associated with inactivating mutations of AR that disrupt male sexual differentiation, and cause a spectrum of phenotypic abnormalities having as a common denominator loss of reproductive viability. No established treatment exists for these conditions, however there are sporadic reports of patients (or recapitulated mutations in cell lines) that respond to administration of supraphysiologic doses (or pulses) of testosterone or synthetic ligands. Here, we utilize a novel high content analysis (HCA) approach to study AR function at the single cell level in genital skin fibroblasts (GSF). We discuss in detail findings in GSF from three historical patients with AIS, which include identification of novel mechanisms of AR malfunction, and the potential ability to utilize HCA for personalized treatment of patients affected by this condition.

Indexed as

Amino Acid SubstitutionAndrogen-Insensitivity SyndromeAndrogensCell NucleusDose-Response Relationship, DrugFibroblastsHeLa CellsHigh-Throughput Screening AssaysHumansMaleMutant ProteinsMutationPrecision MedicineProtein Structure, TertiaryProtein TransportReceptors, AndrogenAndrogensAR protein, humanMutant ProteinsReceptors, Androgen

Identifiers

PMID20011049
PMCPMC2785468
OpenAlexW2051116750

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.