ArticleEMBO molecular medicine2018
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
Registry-linked trialOpen access · goldAbstract read
In one paragraph
Article in EMBO molecular medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01916018 (Phenotype and Genotype Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. The Use of Genetic Analysis in the Early Care of Children With Thyroid Dysgenesis), which is not on this map. Cited by 37 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 1 pooled it
3.4field-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.
Phenotype and Genotype Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. The Use of Genetic Analysis in the Early Care of Children With Thyroid Dysgenesis
Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.Thyroid : official journal of the American Thyroid Association · 2021Guideline
- Towards a systems-level view of the microtubule cytoskeleton and its functions in physiology and disease.Nature reviews. Molecular cell biology · 2026Review
- Approach to the patient: genetics and management of congenital hypothyroidism.The Journal of clinical endocrinology and metabolism · 2026Article
- Exploring the Potential of Calebin-A in Targeting Obesity-Related Genes and Pathways.Journal of cellular and molecular medicine · 2026Article
- Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction.British journal of haematology · 2026Article
- Bridging the gap: an emerging link between tubulinopathies and ciliopathies.NPJ genomic medicine · 2026Review
- Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.Nature communications · 2025Article
- Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.International journal of molecular sciences · 2025Review
- TUBB1 promoter methylation is a promising biomarker for predicting HBeAg seroconversion in chronic hepatitis B.Microbiology spectrum · 2025Article
- Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.European thyroid journal · 2025Review
- Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.Frontiers in endocrinology · 2025Article
- Prevention and treatment of peri-implant fibrosis by functionally inhibiting skeletal cells expressing the leptin receptor.Nature biomedical engineering · 2024Article
- A deep learning framework for predicting disease-gene associations with functional modules and graph augmentation.BMC bioinformatics · 2024Article
- A circle of life: platelet and megakaryocyte cytoskeleton dynamics in health and disease.Open biology · 2024Review
- The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.The Journal of clinical endocrinology and metabolism · 2023Article
- Novel Missense Variants inInternational journal of molecular sciences · 2023Article
- Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures.Frontiers in endocrinology · 2023Article
- ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma.Combinatorial chemistry & high throughput screening · 2023Article
- Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Plasma proteomic profiling in postural orthostatic tachycardia syndrome (POTS) reveals new disease pathways.Scientific reports · 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
24 authors at 6 institutions in 2 countries.
Athanasia StoupaINSERM U1016, Faculté de Médecine, Cochin Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Frédéric AdamINSERM UMR_S1176, Paris-Sud University, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
Dulanjalee KariyawasamRARE Disorder Center: Centre des Maladies Endocriniennes Rares de la Croissance et du Développement, Paris, France.
Catherine StrasselINSERM, EFS Grand Est, BPPS UMR-S 1255, FMTS, Université de Strasbourg, Strasbourg, France.
Sanjay GawadeDepartment of Biomedicine, Pediatric Immunology, University of Basel, Basel, Switzerland.
Gabor SzinnaiDepartment of Biomedicine, Pediatric Immunology, University of Basel, Basel, Switzerland.
Alexandre KauskotINSERM UMR_S1176, Paris-Sud University, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
Dominique LasneINSERM UMR_S1176, Paris-Sud University, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
Carsten JankeInstitut Curie, CNRS UMR3348, PSL Research University, Orsay, France.ORCID 0000-0001-7053-2000
Kathiresan NatarajanInstitut Curie, CNRS UMR3348, PSL Research University, Orsay, France.
Alain SchmittINSERM U1016, Faculté de Médecine, Cochin Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Christine Bole-FeysotGenomic Platform, INSERM UMR 1163, IMAGINE Institute, Paris Descartes University, Sorbonne Paris Cité, Paris, France.
Patrick NitschkeBioinformatics Platform, IMAGINE Institute, Paris Descartes University, Paris, France.
Juliane LégerRARE Disorder Center: Centre des Maladies Endocriniennes Rares de la Croissance et du Développement, Paris, France.
Fabienne Jabot-HaninBioinformatics Platform, IMAGINE Institute, Paris Descartes University, Paris, France.
Frédéric ToresBioinformatics Platform, IMAGINE Institute, Paris Descartes University, Paris, France.
Anita MichelINSERM, EFS Grand Est, BPPS UMR-S 1255, FMTS, Université de Strasbourg, Strasbourg, France.
Arnold MunnichINSERM U1163, IMAGINE Institute, Translational Genetics, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Claude BesmondINSERM U1163, IMAGINE Institute, Translational Genetics, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Raphaël ScharfmannINSERM U1016, Faculté de Médecine, Cochin Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
François LanzaINSERM, EFS Grand Est, BPPS UMR-S 1255, FMTS, Université de Strasbourg, Strasbourg, France.
Delphine BorgelINSERM UMR_S1176, Paris-Sud University, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
Michel PolakINSERM U1016, Faculté de Médecine, Cochin Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Aurore CarréINSERM U1016, Faculté de Médecine, Cochin Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France aurore.carre@inserm.fr.ORCID 0000-0002-6795-3629
Délégation Paris 5 · FRInserm · FRUniversité Paris Cité · FRUniversité Paris-Sud · FRUniversity of Basel · CHHôpital Necker-Enfants Malades · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain largely unknown. We identified three novel
Indexed as
MutationPlatelet AggregationAnimalsBlood PlateletsHumansMiceMice, KnockoutThyroid DysgenesisTubulinTUBB1 protein, humanTubulincongenital hypothyroidismmacroplateletsmutationsthyroid dysgenesisTUBB1
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
NCT01916018ClinicalTrials.gov
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.