Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.

No abstract is available for this paper.

• Publication year

  2000

• Venue

  American Journal of Human Genetics

• Publication date

  2000-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1086/303019PMID 10856194PMCID PMC1287178
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Endothelial receptor tyrosine kinases activate the STAT signaling pathway: mutant Tie-2 causing venous malformations signals a distinct STAT activation response

  1999cited by this paper
• A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

  1999cited by this paper
• A gene for lymphedema-distichiasis maps to 16q24.3.

  1999cited by this paper
• Mapping of primary congenital lymphedema to the 5q35.3 region.

  1999influential reference
• Crystal structure of the kinase domain of human vascular endothelial growth factor receptor 2: a key enzyme in angiogenesis.

  1999cited by this paper
• Cardiovascular failure in mouse embryos deficient in VEGF receptor-3.

  1998influential reference
• Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

  1998influential reference
• Lymphatic endothelium and Kaposi's sarcoma spindle cells detected by antibodies against the vascular endothelial growth factor receptor-3.

  1998cited by this paper
• Hyperplasia of lymphatic vessels in VEGF-C transgenic mice.

  1997cited by this paper
• Expression of the fms-like tyrosine kinase 4 gene becomes restricted to lymphatic endothelium during development.

  1995cited by this paper
• The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification 1

  1995cited by this paper
• Universal cloning method by TA strategy.

  1995cited by this paper
• Signalling properties of FLT4, a proteolytically processed receptor tyrosine kinase related to two VEGF receptors.

  1994cited by this paper
• Assignment of a locus for dominantly inherited venous malformations to chromosome 9p.

  1994cited by this paper
• Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

  1993cited by this paper
• On congenital lymphedema.

  1986cited by this paper
• Editorial comment on the paper by Crowe and Dickerman: On congenital lymphedema

  1986cited by this paper
• Strategies for multilocus linkage analysis in humans.

  1984influential reference
• [Congenital lymphedema].

  1968cited by this paper
• Congenital Hereditary Lymphoedema

  1965cited by this paper

• Nuclear Medicine Lymphoscintigraphy: Applications and Technical Overview.

  2025cites this paper
• A cellular and molecular perspective on organotypic lymphatic (dys)function.

  2025cites this paper
• Meningeal lymphatic drainage: novel insights into central nervous system disease

  2025cites this paper
• Characteristics and advances in signaling pathways, cellular communication, cell junctions, and oxidative stress in lymphedema

  2025cites this paper
• Moving toward a better understanding of renal lymphatics: challenges and opportunities

  2025cites this paper
• A HGF Mutation in the Familial Case of Primary Lymphedema: A Report

  2024cites this paper
• The mechanosensory channel PIEZO1 functions upstream of angiopoietin/TIE/FOXO1 signaling in lymphatic development

  2024cites this paper
• FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms

  2024cites this paper
• VEGF as a Key Actor in Recurrent Respiratory Papillomatosis: A Narrative Review

  2024cites this paper
• Congenital Vascular and Lymphatic Diseases.

  2024cites this paper
• Targeting lymphatic function in cardiovascular-kidney-metabolic syndrome: preclinical methods to analyze lymphatic function and therapeutic opportunities

  2024cites this paper
• Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema

  2024cites this paper
• Prenatal diagnosis and management of Milroy syndrome: a case report

  2023cites this paper
• Benefits of NGS for Genetic Testing of Primary Lymphedema

  2023cites this paper
• Role and mechanism of FLT4 in high-fat diet-induced obesity in mice.

  2023cites this paper
• A Case Report of Presumptive Primary Lymphedema Localized to the Face of a Dog

  2023cites this paper
• VEGFR3 is required for button junction formation in lymphatic vessels

  2023cites this paper
• Dysregulation of Lymphatic Endothelial VEGFR3 Signaling in Disease

  2023cites this paper
• Edema and lymphatic clearance: molecular mechanisms and ongoing challenges.

  2023cites this paper
• Approach to the Patient with Non-cardiac Leg Swelling.

  2023cites this paper
• Evaluation of Interstitium by Lymphatic Uptake Method in Chronic Bilateral Lower Extremity Edema.

  2023cites this paper
• Sulfonamides modulating tyrosine kinases- An expedient approach towards novel anticancer agents

  2023cites this paper
• Genetic Association in Lower Limb Swelling

  2022cites this paper
• Pathophysiology, Diagnosis, and Management of Canine Intestinal Lymphangiectasia: A Comparative Review

  2022cites this paper
• Sinusoidal and lymphatic vessel growth is controlled by reciprocal VEGF-C–CDH5 inhibition

  2022cites this paper
• Current Mechanistic Understandings of Lymphedema and Lipedema: Tales of Fluid, Fat, and Fibrosis

  2022cites this paper
• Review of diagnosis, differential diagnosis, and management of retroperitoneal lymphangioma

  2022cites this paper
• Pathophysiology and Molecular Research in Lymphedema

  2022cites this paper
• KATP channels in Lymphatic Function.

  2022cites this paper
• Lymphatic Collecting Vessel: New Perspectives on Mechanisms of Contractile Regulation and Potential Lymphatic Contractile Pathways to Target in Obesity and Metabolic Diseases

  2022influential citation
• Primary lymphoedema

  2021cites this paper
• A Milroy Disease Family Caused by FLT4 Gene Mutation of c.2774 T>A

  2021cites this paper
• Mechanosensation and Mechanotransduction by Lymphatic Endothelial Cells Act as Important Regulators of Lymphatic Development and Function

  2021cites this paper
• CCM3 Loss-Induced Lymphatic Defect Is Mediated by the Augmented VEGFR3-ERK1/2 Signaling

  2021cites this paper
• CNS-Draining Meningeal Lymphatic Vasculature: Roles, Conundrums and Future Challenges

  2021cites this paper
• International Camps for Children with Lymphedema and Lymphatic Anomalies: When Education Links with Psychosocial Research

  2021cites this paper
• Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

  2021cites this paper
• Development and Physiological Functions of the Lymphatic System - Insights from Genetic Studies of Lymphedema.

  2021cites this paper
• Vascular endothelial cell specification in health and disease

  2021cites this paper
• A family with Milroy disease caused by the FLT4/VEGFR3 gene variant c.2774 T > A

  2021cites this paper
• A Milroy Disease Family Caused by FLT4 Gene Mutation of c.2774 T>A with Phenotypes Heterogeneity

  2020cites this paper
• Rapid identification of mutations in GJC2 in four limb primary lymphoedema using whole exome sequencing combined with linkage analysis

  2020cites this paper
• Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

  2020cites this paper
• Atypical cadherin Fat4 orchestrates lymphatic endothelial cell polarity in response to flow.

  2020cites this paper
• Lymphatic Malformations in Children

  2020cites this paper
• Emerging importance of molecular pathogenesis of vascular malformations in clinical practice and classifications

  2020cites this paper
• The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases

  2020influential citation
• Genetic Disorders of the Lymphatic System

  2020cites this paper
• Genetics of vascular anomalies.

  2020cites this paper
• Lymphatic Valves and Lymph Flow in Cancer-Related Lymphedema

  2020cites this paper
• Overview of Lymphedema for Physicians and Other Clinicians: A Review of Fundamental Concepts.

  2020cites this paper
• Single Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell.

  2020cites this paper
• Paracrine effect of human adipose-derived stem cells on lymphatic endothelial cells.

  2020cites this paper
• The Lymphatic Vasculature in the 21st Century: Novel Functional Roles in Homeostasis and Disease.

  2020cites this paper
• Characterization of ANGPT2 mutations associated with primary lymphedema

  2020cites this paper
• Lymphatics and its Role in Inflammation, Lymphoedema, Cancer and Immunity

  2020cites this paper
• FLT4 Gene

  2020cites this paper
• Macrophage defects

  2020cites this paper
• Cellular Origins of the Lymphatic Endothelium: Implications for Cancer Lymphangiogenesis

  2020cites this paper
• Defective development of the peripheral lymphatic system: Lymphatic malformations

  2020cites this paper
• Disorders of Lymphatics

  2019cites this paper
• Translational Challenges: Lymph Node Tissue Engineering

  2019cites this paper
• Evolutionary Differences in the Vegf/Vegfr Code Reveal Organotypic Roles for the Endothelial Cell Receptor Kdr in Developmental Lymphangiogenesis.

  2019cites this paper
• Vascular Malformations

  2019cites this paper
• Blockade of Lymphangiogenesis Shapes Tumor-Promoting Adipose Tissue Inflammation.

  2019cites this paper
• Preliminary Report: The Relevance of Tumor Necrosis Factor-α in Acquired Primary Lymphedema-A Histopathological Investigation.

  2019cites this paper
• Lymphatic mimicry in maternal endothelial cells promotes placental spiral artery remodeling.

  2019cites this paper
• Yap1 promotes sprouting and proliferation of lymphatic progenitors downstream of Vegfc in the zebrafish trunk

  2019cites this paper
• Cellular and Molecular Mechanisms of Vasculogenesis, Angiogenesis, and Lymphangiogenesis

  2019cites this paper
• Lymphatic Vessel Pumping.

  2019cites this paper
• Fibrosis and secondary lymphedema: chicken or egg?

  2019cites this paper
• Structure and function of vascular endothelial growth factor and its receptor system

  2018cites this paper
• Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.

  2018cites this paper
• Endothelial Metabolic Control of Lymphangiogenesis

  2018cites this paper
• Lymphatic Vessel Network Structure and Physiology.

  2018cites this paper
• Mechanotransduction in Blood and Lymphatic Vascular Development and Disease.

  2018cites this paper
• A Review of NEMO Protein and its Relationship with Genetic Diseases

  2018cites this paper
• RESULTS Inactivation of VEGFR-3 Signaling Decreases Plasma Triglyceride ( TG ) Levels After Lipid Bolus

  2018cites this paper
• Mechanisms of Connexin-Related Lymphedema: A Critical Role for Cx45, but not Cx43 or Cx47, in the Entrainment of Spontaneous Lymphatic Contractions

  2018cites this paper
• Choanal Atresia-Lymphedema

  2018cites this paper
• Pulmonary lymphatic vessel morphology: a review.

  2018cites this paper
• Vascular endothelial growth factor signaling in development and disease

  2018cites this paper
• Vascular Anomalies: From a Clinicohistologic to a Genetic Framework

  2018cites this paper
• VEGFR-3 Signaling Regulates Triglyceride Retention and Absorption in the Intestine

  2018cites this paper
• VEGFR‐3 signaling is regulated by a G‐protein activator, activator of G‐protein signaling 8, in lymphatic endothelial cells

  2018cites this paper
• A novel mutation in the conserved sequence of vascular endothelial growth factor receptor 3 leads to primary lymphoedema

  2018cites this paper
• Biology of Vascular Endothelial Growth Factor C in the Morphogenesis of Lymphatic Vessels

  2018cites this paper
• A Novel Mutation in the FOXC2 Gene: A Heterozygous Insertion of Adenosine (c.867insA) in a Family with Lymphoedema of Lower Limbs without Distichiasis

  2017cites this paper
• Lymphangiogenesis guidance by paracrine and pericellular factors

  2017cites this paper
• Role of the VEGFC/VEGFR3 pathway, beyond developmental lymphangiogenesis

  2017cites this paper
• Leukotriene B4 antagonism ameliorates experimental lymphedema

  2017cites this paper
• An approach to familial lymphoedema.

  2017cites this paper
• Progress and prospect of lymphangiogenesis research

  2017cites this paper
• Intestinal lymphatic vasculature: structure, mechanisms and functions

  2017cites this paper
• Primary Upper Limb Lymphedema: Case Report of a Rare Pathology.

  2017cites this paper
• Chapter 2 Genetic Diseases Affecting the Canonical Pathway of NF-κ B Activation

  2017cites this paper
• Cancer nanotheranostics: A review of the role of conjugated ligands for overexpressed receptors

  2017cites this paper
• VEGF Receptor Tyrosine Kinases: Key Regulators of Vascular Function.

  2017cites this paper
• The Genetic Basis and Molecular Diagnosis of Vascular Tumors and Developmental Malformations

  2016cites this paper
• A novel mutation in vascular endothelial growth factor receptor 3 causes primary lymphedema in a Chinese family

  2016cites this paper