Evidence map›Paper›PMID 35292292›Full record

ArticleUrology2022

Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease.

Alexandra Dullea, Iakov Efimenko, Fakiha Firdaus, Anthony Griswold, Himanshu Arora, Thomas Masterson, Ranjith Ramasamy

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Urology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-weighted citation impact, top 28% 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
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

7 authors at 1 institution in 1 country.

Alexandra DulleaUniversity of Miami, Miami, FL.
Iakov EfimenkoUniversity of Miami, Miami, FL.
Fakiha FirdausUniversity of Miami, Miami, FL.
Anthony GriswoldUniversity of Miami, Miami, FL.
Himanshu AroraUniversity of Miami, Miami, FL.
Thomas MastersonUniversity of Miami, Miami, FL.
Ranjith RamasamyUniversity of Miami, Miami, FL. Electronic address: Ramasamy@miami.edu.
University of Miami · US

Funding

Disease Modifying Treatment Using Combined Shockwave Therapy and Platelet Rich Plasma In Microvascular Erectile DysfunctionR01DK130991 · NIDDK · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI IBRAHIM, EMAD · 2021 to 2023
$921k
NIDDK NIH HHS R01 DK130991
6 · The paper itself

Abstract

Peyronie's Disease (PD) is estimated to occur in up to 13% of males and has been associated with Dupuytren's Disease (DD). We identified 3 men with PD/DD and hypothesized that there may be a genetic association between the 2 diseases. Blood samples were collected from the participants and sent for whole genome sequencing. A rare non-synonymous mutation in the ALMS1 gene was identified in 3 men. Interestingly, ALMS1 is associated with TGF-b, and aberrant fibrosis. This pilot study generates the hypothesis that mutations in ALMS1 may predispose patients to development of PD/DD.

Indexed as

Dupuytren ContracturePenile IndurationCell Cycle ProteinsHumansMaleMutationPilot ProjectsWhole Genome SequencingALMS1 protein, humanCell Cycle Proteins

Identifiers

PMID35292292
PMCPMC9356975
OpenAlexW4220771340

What OpenQuestion holds

Textmetadata
LicenceTDM
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.