Evidence map›Paper›PMID 33072755›Full record

ArticleFrontiers in cell and developmental biology2020

The Endometrial Transcription Landscape of MRKH Syndrome.

Thomas Hentrich, André Koch, Nico Weber, Alexander Kilzheimer, Ana Maia, Simone Burkhardt, Katharina Rall, Nicolas Casadei, Oliver Kohlbacher, Olaf Riess and 2 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in cell and developmental biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
1.5field-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

14 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.

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  14. The Endometrial Transcription Landscape of MRKH Syndrome.Frontiers in cell and developmental biology · 2020
    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

12 authors at 4 institutions in 1 country.

Thomas HentrichInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
André KochDepartment of Obstetrics and Gynecology, University of Tübingen, Tübingen, Germany.
Nico WeberApplied Bioinformatics, Department of Computer Science, University of Tübingen, Tübingen, Germany.
Alexander KilzheimerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Ana MaiaDivision of Molecular Genome Analysis, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Simone BurkhardtInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Katharina RallDepartment of Obstetrics and Gynecology, University of Tübingen, Tübingen, Germany.
Nicolas CasadeiInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Oliver KohlbacherApplied Bioinformatics, Department of Computer Science, University of Tübingen, Tübingen, Germany.
Olaf RiessInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Julia Maria Schulze-HentrichInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Sara Yvonne BruckerDepartment of Obstetrics and Gynecology, University of Tübingen, Tübingen, Germany.
University of Tübingen · DEBernstein Center for Computational Neuroscience Tübingen · DEHeidelberg University · DEMax Planck Institute for Developmental Biology · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (OMIM 277000) is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. While genetic causes have been identified for a small subset of patients and epigenetic mechanisms presumably contribute to the pathogenic unfolding, too, the etiology of the syndrome has remained largely enigmatic. A comprehensive understanding of gene activity in the context of the disease is crucial to identify etiological components and their potential interplay. So far, this understanding is lacking, primarily due to the scarcity of samples and suitable tissue. In order to close this gap, we profiled endometrial tissue of uterus rudiments in a large cohort of MRKH patients using RNA-seq and thereby provide a genome-wide view on the altered transcription landscape of the MRKH syndrome. Differential and co-expression analyses of the data identified cellular processes and candidate genes that converge on a core network of interconnected regulators that emerge as pivotal for the perturbed expression space. With these results and browsable access to the rich data through an online tool we seek to accelerate research to unravel the underlying biology of the syndrome.

Indexed as

endometriumMRKHrare diseasetranscriptomeuterus

Identifiers

PMID33072755
PMCPMC7542331
OpenAlexW3088912474

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.