ArticleProceedings of the National Academy of Sciences of the United States of America2023
The SHDRA syndrome-associated gene
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In one paragraph
Article in Proceedings of the National Academy of Sciences of the United States of America, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
3.7field-weighted citation impact, top 7% 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.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Context-Dependent Roles of the Plexin-B Family Across Neurological, Oncological, Immune and Cardiovascular Disorders: Mechanisms and Therapeutic Implications.Life (Basel, Switzerland) · 2026Review
- O-mannosylation and furin processing are critical maturation events for the KIAA1549 protein implicated in pediatric pilocytic astrocytomas.The Journal of biological chemistry · 2026Article
- O-Mannose Glycosylations Influence E-Cadherin Functional Interactions.Molecular & cellular proteomics : MCP · 2026Article
- KANK4 Regulates CXCL16 Glycosylation Through TMEM260 to Modulate Microglial Activation in Sepsis-associated Encephalopathy.Inflammation · 2026Article
- Biosynthesis and Regulation of Laminin-Binding O-Mannosyl Glycans Related to Muscular Dystrophy.Advances in experimental medicine and biology · 2026Review
- O-mannosylation of misfolded ER proteins promotes ERAD.The EMBO journal · 2026Article
- AMolecular syndromology · 2025Article
- Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families.European journal of human genetics : EJHG · 2025Article
- A Case Report of Giant Congenital Melanocytic Nevus Complicated by Minimal Change Disease, With Genetic Analysis.Clinical case reports · 2025Article
- GlycoMaple: recent updates and applications in visualization and analysis of glycosylation pathways.Analytical and bioanalytical chemistry · 2025Review
- Sarcolemma resilience and skeletal muscle health require O-mannosylation of dystroglycan.Skeletal muscle · 2025Article
- Genetics of glycosylation in mammalian development and disease.Nature reviews. Genetics · 2024Review
- Global View of Domain-Specific O-Linked Mannose Glycosylation in Glycoengineered Cells.Molecular & cellular proteomics : MCP · 2024Article
- Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.Journal of human genetics · 2024Article
- The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.Journal of human genetics · 2024Article
- Molecular-level architecture of Chlamydomonas reinhardtii's glycoprotein-rich cell wall.Nature communications · 2024Article
- Protein O-mannosylation: one sugar, several pathways, many functions.Glycobiology · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 5 institutions in 4 countries.
Ida Signe Bohse LarsenCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.
Lorenzo PovoloCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.ORCID 0000-0001-7927-823X
Luping ZhouFaculty of Medicine, Institute of Pharmacology, University of Marburg, 35043 Marburg, Germany.
Weihua TianCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.
Kasper Johansen MygindCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.ORCID 0009-0004-4438-9019
John HintzeCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.
Chen JiangFaculty of Medicine, Institute of Pharmacology, University of Marburg, 35043 Marburg, Germany.
Verity HartillLeeds Institute of Medical Research, University of Leeds, St James' University Hospital, Leeds LS2 9JT, United Kingdom.
Katrina PrescottYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, United Kingdom.
Colin A JohnsonLeeds Institute of Medical Research, University of Leeds, St James' University Hospital, Leeds LS2 9JT, United Kingdom.ORCID 0000-0002-2979-8234
Sureni V MullegamaGeneDx, Gaithersburg, MD 20877.
Allyn McConkie-RosellDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
Marie McDonaldDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
Lars HansenCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.
Sergey Y VakhrushevCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.
Katrine T SchjoldagerCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.ORCID 0000-0002-8592-6763
Henrik ClausenCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.ORCID 0000-0002-0915-5055
Thomas WorzfeldFaculty of Medicine, Institute of Pharmacology, University of Marburg, 35043 Marburg, Germany.
Hiren J JoshiCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.ORCID 0000-0002-8192-2829
Adnan HalimCopenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark.ORCID 0000-0003-1629-187X
University of Copenhagen · DKPhilipps University of Marburg · DEDuke Medical Center · USUniversity of Leeds · GBChapel Allerton Hospital · GB
Funding
British Heart Foundation FS/13/32/30069Medical Research Council MR/V037617/1Wellcome Trust 220079
Abstract
Mutations in the
Indexed as
MannoseMannosyltransferasesAnimalsGlycosylationMammalsMembrane ProteinsMannoseMannosyltransferasesMembrane Proteinsprotein O-mannosyltransferasetransmembrane protein 260, humancongenital disorders of glycosylationglycoproteomicsglycosylationO-mannosylationplexin
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
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.