Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA - Wikidata - wikimedia - TriplyDB

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

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Imaging Pediatric Vascular Lesions Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?New insights into the generation and role of de novo mutations in health and disease Applicability of digital PCR to the investigation of pediatric-onset genetic disorders Somatic Activating PIK3CA Mutations Cause Venous Malformation Activation of PKCα and PI3K Kinases in Hypertrophic and Nodular Port Wine Stain Lesions The pathobiology of vascular malformations: insights from human and model organism genetics.Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.Enlarging cystic lymphangioma of the mediastinum in an adult: is this a neoplastic lesion related to the recently discovered PIK3CA mutation?Intraoperative Assessment of Facial Nerve Trunk Width in Early Childhood With Cervicofacial Lymphatic Malformation.Coexistence of EphB1 and EphrinB2 in Port Wine Stain Endothelial Progenitor Cells Contributes to Clinicopathological Vasculature Dilatation.Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma Somatic PIK3CA mutations as a driver of sporadic venous malformations.PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.Clinical Efficacy of Herbal Medicine for Pediatric Lymphatic Malformations: A Pilot Study.Current Status, Pitfalls and Future Directions in the Diagnosis and Therapy of Lymphatic Malformation.Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.Complications of pregnancy and labour in women with Klippel-Trénaunay syndrome: a nationwide cross-sectional study.CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.Therapeutic targeting of the angiopoietin-TIE pathway.Vascular heterogeneity and specialization in development and disease.Sonographic screening for Wilms tumor in children with CLOVES syndrome.Haploinsufficiency of Klippel-Trenaunay syndrome gene Aggf1 inhibits developmental and pathological angiogenesis by inactivating PI3K and AKT and disrupts vascular integrity by activating VE-cadherin.Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma.De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.Rapamycin reversal of VEGF-C-driven lymphatic anomalies in the respiratory tract.Long-Term Follow-Up of Lymphatic Malformations in Children Treated with Sildenafil.Pathological alterations involve the entire skin physiological milieu in infantile and early-childhood port-wine stain.Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS).New Frontiers in Our Understanding of Lymphatic Malformations of the Head and Neck: Natural History and Basic Research.Utilizing lymphatic cell markers to visualize human lymphatic abnormalities.Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas: A study of 19 cases.PI3K/mTOR inhibition promotes the regression of experimental vascular malformations driven by PIK3CA-activating mutations.

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Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

http://www.wikidata.org/entity/Q28256964

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2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2015年の論文

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Lymphatic and other vascular m ...... by somatic mutations in PIK3CA

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Lymphatic and other vascular m ...... by somatic mutations in PIK3CA

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Lymphatic and other vascular m ...... by somatic mutations in PIK3CA

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Lymphatic and other vascular m ...... by somatic mutations in PIK3CA

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Lymphatic and other vascular m ...... by somatic mutations in PIK3CA

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Lymphatic and other vascular m ...... by somatic mutations in PIK3CA

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Lymphatic and other vascular m ...... by somatic mutations in PIK3CA

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Lymphatic and other vascular m ...... by somatic mutations in PIK3CA

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Lymphatic and other vascular m ...... by somatic mutations in PIK3CA

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J.JPEDS.2014.12.069

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The Journal of Pediatrics

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Lymphatic and other vascular m ...... by somatic mutations in PIK3CA

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Andrew Kirsh

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Arin K Greene

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Cameron C Trenor

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Carlos J Guevara

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David Zurakowski

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Harry P W Kozakewich

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John B Mulliken

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Jonathan A Perkins

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Joseph Upton

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Kristy L Rialon

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P2860

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

High frequency of mutations of the PIK3CA gene in human cancers

High-throughput droplet digital PCR system for absolute quantitation of DNA copy number

Hermann Friedberg's case report: an early description of CLOVES syndrome

Primer3--new capabilities and interfaces

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.

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William B. Dobyns

Steven A McCarroll

Ahmad I. Alomari

Judith Vmg Bovée

James T Bennett

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2015-02-11T00:00:00Z

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