ArticleVascular cell2016
A novel mutation in CELSR1 is associated with hereditary lymphedema.
Article in Vascular cell, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
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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
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- A systematic review of indocyanine green lymphography imaging for the diagnosis of primary lymphoedema.The British journal of radiology · 2025Pooled it
- Adhesion G protein-coupled receptors.Pharmacological reviews · 2026Review
- Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.Nature communications · 2026Article
- Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions.Prenatal diagnosis · 2026Article
- Genotype-Phenotype Associations in Phelan-McDermid Syndrome: Insights into Novel Genes BeyondInternational journal of molecular sciences · 2025Article
- Structural basis for regulation of CELSR1 by a compact module in its extracellular region.Nature communications · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Lymphatic System Development and Function.Current cardiology reports · 2024Review
- Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.Molecular autism · 2024Article
- Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.Clinical genetics · 2024Review
- Targeting lymphatic function in cardiovascular-kidney-metabolic syndrome: preclinical methods to analyze lymphatic function and therapeutic opportunities.Frontiers in cardiovascular medicine · 2024Review
- Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023Review
- A Practical Approach to the Diagnosis of Lymphedema: A Narrative Review.Dermatology practical & conceptual · 2023Review
- Investigation into the genetics of fetal congenital lymphatic anomalies.Prenatal diagnosis · 2023Article
- [Update on nevi and nevoid skin disorders].Dermatologie (Heidelberg, Germany) · 2023Review
- Imaging peripheral lymphatic dysfunction in chronic conditions.Frontiers in physiology · 2023Review
- Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing.Scientific reports · 2022Article
- Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways.International journal of molecular sciences · 2022Article
- Primary Upper Extremity Lymphedema Caused by aJournal of vascular anomalies · 2022Article
- Orphan G-Protein Coupled Receptor GPRC5B Is Critical for Lymphatic Development.International journal of molecular sciences · 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
7 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundBiological evidence reported in the literature supports the role of CELSR1 as being essential for valvular function in murine lymphatics. Yet thus far, there have been no variants in CELSR1 associated with lymphatic dysfunction in humans. CASE PRESENTATION: In this report, a rare early inactivating mutation in CELSR1 is found to be causal for non-syndromic, lower extremity lymphedema in a family across three generations. Near-infrared fluorescence lymphatic imaging shows that instead of being propelled within the lumen of well-defined lymphatic vessels, lymph moved in regions of both legs in an unusual fashion and within sheet-like structures.
conclusionCELSRI may be responsible for primary, non-syndromic lymphedema in humans.
Indexed as
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What OpenQuestion holds
Registered trials
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.