Evidence map›Paper›PMID 37509153›Full record

ArticleBiomolecules2023

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates

Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C Hilger, Gabriel C Dworschak, Enrico Mingardo, Wolfgang Rösch and 12 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomolecules, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.6field-weighted citation impact, top 32% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

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

22 authors at 8 institutions in 1 country.

Ricarda KöllgesInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Jil StegmannInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Sophia SchneiderInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.ORCID 0000-0003-4872-0093
Lea WaffenschmidtInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Julia FazaalInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Katinka BreuerInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Alina C HilgerDepartment of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany.
Gabriel C DworschakInstitute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany.ORCID 0000-0003-0015-6964
Enrico MingardoInstitute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany.
Wolfgang RöschDepartment of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, 93053 Regensburg, Germany.
Aybike HofmannDepartment of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, 93053 Regensburg, Germany.ORCID 0000-0002-7974-6694
Claudia NeissnerDepartment of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, 93053 Regensburg, Germany.
Anne-Karolin EbertDepartment of Urology and Pediatric Urology, University Hospital Ulm, 89081 Ulm, Germany.
Raimund SteinCenter for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, University Heidelberg, 69117 Mannheim, Germany.
Nina YounsiCenter for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, University Heidelberg, 69117 Mannheim, Germany.
Karin Hirsch-KochDivision of Pediatric Urology, Department of Urology, University Hospital Erlangen, 91054 Erlangen, Germany.
Eberhard SchmiedekeClinic for Pediatric Surgery and Pediatric Urology, Klinikum Bremen-Mitte, 28205 Bremen, Germany.
Nadine ZwinkDepartment of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.
Ekkehart JenetzkyDepartment of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.ORCID 0000-0001-5415-8784
Holger ThieleCologne Center for Genomics, University of Cologne, 50923 Cologne, Germany.
Kerstin U LudwigInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.ORCID 0000-0002-8541-2519
Heiko ReutterDivision of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany.ORCID 0000-0002-3591-5265
University of Bonn · DEUniversitätsklinikum Erlangen · DEUniversity Hospital Regensburg · DEHeidelberg University · DEJohannes Gutenberg University Mainz · DEKlinikum Bremen-Mitte · DEUniversity Hospital Ulm · DEUniversity of Cologne · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as well.

methodsHerein, we performed an exome analysis of case-parent trios with cloacal exstrophy (CE), the most severe form of the BEEC. Furthermore, we surveyed the exome of a sib-pair presenting with classic bladder exstrophy (CBE) and epispadias (E) only. Moreover, we performed large-scale re-sequencing of CBE individuals for novel candidate genes that were derived from the current exome analysis, as well as for previously reported candidate genes within the CBE phenocritical region, 22q11.2.

resultsThe exome survey in the CE case-parent trios identified two candidate genes harboring de novo variants (

conclusionsAccording to previous studies, our study further implicates

Indexed as

Bladder ExstrophyEpispadiasCalcium-Binding ProteinsExomeHumansMaleMembrane ProteinsTranscription FactorsUrinary BladderCalcium-Binding ProteinsCLSTN3 protein, humanLZTR1 protein, humanMembrane ProteinsTranscription Factorscloacal exstrophyexome analysisexstrophymolecular inversion probe

Identifiers

PMID37509153
PMCPMC10377188
OpenAlexW4384342086

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.