ArticleThrombosis and haemostasis2022
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.
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Article in Thrombosis and haemostasis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14citing papers in PubMed
4.2field-weighted citation impact, top 5% of its field
What it found
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy.Human genome variation · 2026Article
- Biosynthetic and genetic pathways related to sialic acid metabolism.The Journal of biological chemistry · 2026Review
- Article
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy.Annals of hematology · 2024Article
- Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.Journal of thrombosis and haemostasis : JTH · 2024Article
- Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.Blood advances · 2024Article
- Understanding pathophysiology of GNE myopathy and current progress towards drug development.Journal of biosciences · 2024Review
- Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.International journal of molecular sciences · 2023Review
- Hemostatic defects in congenital disorders of glycosylation.Research and practice in thrombosis and haemostasis · 2023Article
- Glycation Interferes with the Activity of the Bi-Functional UDP-Biomolecules · 2023Article
- Treatment of inherited thrombocytopenias.Haematologica · 2022Review
- Sialic acid and platelet count regulation: Implications in immune thrombocytopenia.Research and practice in thrombosis and haemostasis · 2022Article
- Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.Frontiers in immunology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 5 institutions in 2 countries.
Barbara ZiegerDivision of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Doris BoeckelmannDivision of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID 0000-0001-9238-2904
Waseem AnaniTranslational Glycomics Center, Versiti Blood Research Institute, Milwaukee, Wisconsin, United States.
Hervé FaletTranslational Glycomics Center, Versiti Blood Research Institute, Milwaukee, Wisconsin, United States.
Jieqing ZhuTranslational Glycomics Center, Versiti Blood Research Institute, Milwaukee, Wisconsin, United States.
Hannah GlonneggerDivision of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Hermann FullClinic for Pediatric and Adolescent Medicine, SLK-Kliniken Heilbronn, Heilbronn, Germany.
Felicia AndresenDivision of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Miriam ErlacherDivision of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Ekkehart LauschPediatric Genetics Section, Department of Pediatrics, University of Freiburg, Freiburg, Germany.
Salome FelsDivision of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Brigitte StrahmDivision of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Peter LangDepartment of Pediatrics, Children's University Hospital, University of Tübingen, Tübingen, Germany.
Karin M HoffmeisterTranslational Glycomics Center, Versiti Blood Research Institute, Milwaukee, Wisconsin, United States.
University of Freiburg · DEMedical College of Wisconsin · USSLK-Kliniken Heilbronn · DEUniversity Children's Hospital Tübingen · DEVersiti Blood Center of Wisconsin · US
Funding
REGULATION OF LACTOSAMINYL GLYCAN BIOSYNTHESIS IN HEMATOPOIETIC CELLSP01HL107146 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SACKSTEIN, ROBERT · 2011 to 2017
$17.7MProject 3: Role of Glycosaminoglycans in HematopoiesisP01HL151333 · NHLBI · VERSITI WISCONSIN, INC. · PI HOFFMEISTER, KARIN MARIA · 2021 to 2025
$12.3MCarbohydrate-Mediated Platelet ClearanceR01HL089224 · NHLBI · VERSITI WISCONSIN, INC. · PI Karin Maria Hoffmeister · 2007 to 2026
$9.3MStructural Transition of Cellular Integrins and Applications ThereofR01HL131836 · NHLBI · VERSITI WISCONSIN, INC. · PI Jieqing Zhu · 2016 to 2026
$5.5MGlycans in Blood Homeostasis and DiseaseK12HL141954 · NHLBI · VERSITI WISCONSIN, INC. · PI DAHMS, NANCY M., DESAI, UMESH RAMANLAL · 2018 to 2022
$4.9MEndocytosis in platelet and megakaryocyte biologyR01HL126743 · NHLBI · VERSITI WISCONSIN, INC. · PI FALET, HERVE · 2016 to 2019
$1.7MStructural Mechanisms Underlying the Activity Regulation of the Receptor-like Protein Tyrosine Phosphatase, CD148/PTPRJR01GM137143 · NIGMS · VERSITI WISCONSIN, INC. · PI ZHU, JIEQING · 2020 to 2023
$1.4MHL126743 National Institutes of Health, National Heart, Lung, and Blood InstituteK12 HL141954 National Institutes of Health, National Heart, Lung, and Blood InstituteNHLBI NIH HHS K12 HL141954NHLBI NIH HHS P01 HL107146NHLBI NIH HHS P01 HL151333NHLBI NIH HHS R01 HL089224NHLBI NIH HHS R01 HL126743NHLBI NIH HHS R01 HL131836NIGMS NIH HHS R01 GM137143P01 HL107146 National Institutes of Health, National Heart, Lung, and Blood InstituteR01 HL089224 National Institutes of Health, National Heart, Lung, and Blood Institute
Abstract
The
Indexed as
Distal MyopathiesThrombocytopeniaBlood PlateletsFemaleHumansMultienzyme ComplexesMutationN-Acetylneuraminic AcidMultienzyme ComplexesN-Acetylneuraminic Acid
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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.