Associated Papers
Orbital angioleiomyoma with GJA4 mutation mimicking cavernous venous malformation: a case report and comprehensive review.
Callet M et al.
Orbit (amsterdam, Netherlands), 2025
Homozygous Nonsense Variant in the GJA4 Gene Associated With Increased Fetal Nuchal Fold Thickness and Abnormal Fetal Ductus Venosus Termination: A Case Report.
Chauhan B et al.
Cureus, 2025
Venous Malformations: Unraveling Latest Mechanisms and Bridging Gaps in Targeted Therapy Development.
Jiang X et al.
International Journal of Biological Sciences, 2025
Cerebral vascular malformations: pathogenesis and therapy.
He Q et al.
Medcomm, 2024
Intracranial angioleiomyoma mimicking meningioma: an uncommon tumor with favorable outcome and frequent GJA4 mutation.
Ren L et al.
Neurosurgical Review, 2024
GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.
Ren J et al.
American Journal of Human Genetics, 2024
Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.
Huo R et al.
Stroke and Vascular Neurology, 2023
Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.
Hongo H et al.
Angiogenesis, 2023
Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis.
Crouthamel OE et al.
International Journal of Molecular Sciences, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Peracchia C
International Journal of Molecular Sciences, 2021
Vascular and Lymphatic Malformations: Perspectives From Human and Vertebrate Studies.
Janardhan HP et al.
Circulation Research, 2021
Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation.
Ugwu N et al.
Hgg Advances, 2021
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