Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. - Wikidata - wikimedia - TriplyDB

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

http://www.wikidata.org/entity/Q54356163

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Overgrowth Syndromes.PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation Somatic Activating PIK3CA Mutations Cause Venous Malformation PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K Molecular analyses of juvenile granulosa cell tumors bearing AKT1 mutations provide insights into tumor biology and therapeutic leads.Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation Intraoperative Assessment of Facial Nerve Trunk Width in Early Childhood With Cervicofacial Lymphatic Malformation.Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.Germline, hematopoietic, mosaic, and somatic variation: interplay between inherited and acquired genetic alterations in disease assessment.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Molecules in medicine mini-review: isoforms of PI3K in biology and disease.Approach to the Diagnosis of Overgrowth Syndromes.Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.Complex Truncal Masses in the Setting of CLOVES Syndrome: Aesthetic and Functional Implications.Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management.Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts.AKT/PKB Signaling: Navigating the Network.Sonographic screening for Wilms tumor in children with CLOVES syndrome.Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS).A case of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome with lipoatrophy as an important clinical manifestation.Fibroadipose vascular anomaly treated with sirolimus: Successful outcome in two patients.Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).Oral sildenafil as a treatment option for lymphatic malformations in PIK3CA-related tissue overgrowth syndromes.Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.Characterization of thrombosis in patients with Proteus syndrome.In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

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P2860

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

http://www.wikidata.org/entity/Q54356163

description

2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年學術文章

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2014年學術文章

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2014年學術文章

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name

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

@en

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

@nl

type

label

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

@en

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

@nl

prefLabel

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

@en

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

@nl

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American Journal of Medical Genetics

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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

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Alex Henderson

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Andrew Shuen

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Cathy Blumhorst

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Elizabeth A Sellars

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Eveliina Jakkula

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Ian Grant

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Jamie L Fraser

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John M Graham

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Joseph Geer

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Julie C Sapp

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P2860

Mutations of PIK3CA in gastric adenocarcinoma

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

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

Assessment and management of the orthopedic and other complications of Proteus syndrome

Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic

Effective use of PI3K and MEK inhibitors to treat mutant Kras G12D and PIK3CA H1047R murine lung cancers.

High frequency of mutations of the PIK3CA gene in human cancers

Increasing Fgf4 expression in the mouse limb bud causes polysyndactyly and rescues the skeletal defects that result from loss of Fgf8 function

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10.1002/AJMG.A.36552

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164A

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Robert K Semple

Thomas N. Darling

Meena Balasubramanian

Leslie G Biesecker

Kim M Keppler-Noreuil

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2014-04-29T00:00:00Z

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