ArticleThe Journal of investigative dermatology2019
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.
Open access · bronzeAbstract readLetter
In one paragraph
Article in The Journal of investigative dermatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.7field-weighted citation impact, top 29% of its field
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.
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.
Who cites it
6 citing papers in PubMed, 18 citations in OpenAlex.
- Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.JID innovations : skin science from molecules to population health · 2025Article
- EBS in Children with De Novo Pathogenic Variants DisturbingInternational journal of molecular sciences · 2024Article
- Structure, function, and pathology of protein O-glucosyltransferases.Cell death & disease · 2021Review
- Multifaceted regulation of Notch signaling by glycosylation.Glycobiology · 2021Review
- Other Types of Glycosylation.Advances in experimental medicine and biology · 2021Article
- POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.Acta neuropathologica · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 15 institutions in 8 countries.
Damian J RalserInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Hideyuki TakeuchiDepartment of Biochemistry and Cell Biology, Institute of Cell and Developmental Biology, Stony Brook University, Stony Brook, New York, USA; Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA; Department of Molecular Biochemistry, Nagoya University School of Medicine, Nagoya, Japan.
Günter FritzInstitute of Neuropathology, University of Freiburg, Freiburg, Germany.
F Buket BasmanavInstitute of Human Genetics, University of Bonn, Bonn, Germany; Department of Neuro- and Sensory Physiology, University Medical Center, Göttingen, Göttingen, Germany; Campus Laboratory for Advanced Imaging, Microscopy and Spectroscopy, University of Göttingen, Göttingen, Germany.
Maike EffernInstitute of Clinical Chemistry and Clinical Pharmacology, Unit for RNA Biology, University Hospital of Bonn, Bonn, Germany; Department of Microbiology and Immunology, The Peter Doherty Institute for Infection and Immunology, The University of Melbourne, Melbourne, Australia.
Sugirthan SivalingamInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Laila El-Shabrawi-CaelenDepartment of Dermatology, Medical University of Graz, Graz, Austria.
Ece N DegirmentepeDepartment of Dermatology, Okmeydani Training and Research Hospital, Istanbul, Turkey.
Emek KocatürkDepartment of Dermatology, Okmeydani Training and Research Hospital, Istanbul, Turkey.
Manuraj SinghDepartment of Dermatopathology, St John's Institute of Dermatology, London, United Kingdom.
Nina BookenDepartment of Dermatology, University of Hamburg-Eppendorf, Hamburg, Germany.
Natalia M K SpieringsDepartment of Dermatology, Leeds Teaching Hospitals National Health Service Trust, United Kingdom.
Viktor SchnabelDepartment of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.
Andre HeinekeDepartment of Dermatology, Helios Klinikum Hildesheim GmbH, Hildesheim, Germany.
Jana KnueverDepartment of Dermatology and Venereology, University Hospital of Cologne, Cologne, Germany.
Sabrina WolfInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Maria WehnerInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Michael TronnierDepartment of Dermatology, Helios Klinikum Hildesheim GmbH, Hildesheim, Germany.
Martin LeverkusDepartment of Dermatology, Venereology, and Allergology, Medical Faculty, Mannheim, University of Heidelberg, Mannheim, Germany; Department of Dermatology and Allergology, University Hospital of Aachen, RWTH, Aachen, Aachen, Germany.
Iliana Tantcheva-PoórDepartment of Dermatology and Venereology, University Hospital of Cologne, Cologne, Germany.
Jörg WenzelDepartment of Dermatology, University of Bonn, Bonn, Germany.
Vinzenz OjiDepartment of Dermatology, University of Münster, Münster, Germany.
Cristina HasDepartment of Dermatology, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Michael HölzelInstitute of Clinical Chemistry and Clinical Pharmacology, Unit for RNA Biology, University Hospital of Bonn, Bonn, Germany.
Jorge FrankDepartment of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.
Robert S HaltiwangerDepartment of Biochemistry and Cell Biology, Institute of Cell and Developmental Biology, Stony Brook University, Stony Brook, New York, USA; Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA.
Regina C BetzInstitute of Human Genetics, University of Bonn, Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.
University of Bonn · DEOkmeydanı Eğitim ve Araştırma Hastanesi · TRUniversitätsmedizin Göttingen · DEUniversity Hospital Cologne · DEUniversity of Freiburg · DEUniversity of Georgia · USUniversity of Hildesheim · DEHeidelberg University · DEMedical University of Graz · ATNational Health Service · GBSt John's Hospital · GBThe University of Melbourne · AUUniversität Hamburg · DEUniversity Hospital Bonn · DEUniversity of Münster · DE
Funding
O-Glycosylation of Epidermal Growth Factor-like MotifsR01GM061126 · NIGMS · UNIVERSITY OF GEORGIA · PI HALTIWANGER, ROBERT S. · 2001 to 2021
$9.1MNIGMS NIH HHS R01 GM061126
Abstract
PubMed holds no abstract for this paper.
Indexed as
MutationDisease ProgressionDNA Mutational AnalysisFemaleGlucosyltransferasesHumansHyperpigmentationMaleSignal TransductionSkin Diseases, GeneticSkin Diseases, PapulosquamousGlucosyltransferasesPOGLUT1 protein, human
Identifiers
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.