Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA
Valerie L. Luks,Nolan Kamitaki,Matthew P. Vivero,Wibke Uller,Rashed Rab,Judith V.M.G. Bovée,Kristy L. Rialon,Carlos J. Guevara,Ahmad I. Alomari,Arin K. Greene,Steven J. Fishman,Harry P.W. Kozakewich,Reid A. Maclellan,John B. Mulliken,Reza Rahbar,Samantha A. Spencer,Cameron C. Trenor,Joseph Upton,David Zurakowski,Jonathan A. Perkins,Andrew L Kirsh,James T. Bennett,William B. Dobyns,Kyle C. Kurek,Matthew L. Warman,Matthew L. Warman,Matthew L. Warman,Steven A. McCarroll,Rudy Murillo +28 more
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TLDR
Most individuals from Boston Children's Hospital who had isolated LM or LM as part of a syndrome were somatic mosaic for PIK3CA mutations, with 5 specific PIK 3CA mutations accounting for ∼ 80% of cases.About:
This article is published in The Journal of Pediatrics.The article was published on 2015-04-01 and is currently open access. It has received 398 citations till now. The article focuses on the topics: Fibro-adipose vascular anomaly & Klippel-Trenaunay-Weber Syndrome.read more
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Vascular heterogeneity and specialization in development and disease.
Michael Potente,Taija Makinen +1 more
TL;DR: How endothelial cells interact with each other and with their tissue environment is illuminated, providing paradigms for vessel type- and organ-specific endothelial differentiation and crucial for understanding how tissues develop and maintain, and how their function becomes abnormal in disease.
Journal ArticleDOI
New insights into the generation and role of de novo mutations in health and disease.
TL;DR: De novo mutations have been shown to be a major cause of severe early-onset genetic disorders such as intellectual disability, autism spectrum disorder, and other developmental diseases.
Journal ArticleDOI
Therapeutic targeting of the angiopoietin–TIE pathway
TL;DR: Key aspects of the function of the ANG–TIE pathway in vascular disease are covered and the recent development of novel therapeutics that target this pathway are described.
Journal ArticleDOI
Somatic Activating PIK3CA Mutations Cause Venous Malformation.
Nisha Limaye,Jaakko Kangas,Antonella Mendola,Catherine Godfraind,Matthieu J. Schlögel,Raphaël Helaers,Lauri Eklund,Laurence M. Boon,Miikka Vikkula +8 more
TL;DR: Significant genotype-phenotype correlations in lesion localization and histology are observed between individuals with mutations in PIK3CA versus TEK, pointing to gene-specific effects.
Journal ArticleDOI
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
Alissa M. D'Gama,Alissa M. D'Gama,Alissa M. D'Gama,Ying Geng,Ying Geng,Ying Geng,Javier A. Couto,Beth Martin,Evan A. Boyle,Christopher M. LaCoursiere,Amer A. Hossain,Amer A. Hossain,Amer A. Hossain,Nicole E. Hatem,Nicole E. Hatem,Nicole E. Hatem,Brenda J. Barry,Brenda J. Barry,Brenda J. Barry,David J. Kwiatkowski,Harry V. Vinters,A. James Barkovich,Jay Shendure,Gary W. Mathern,Christopher A. Walsh,Christopher A. Walsh,Christopher A. Walsh,Annapurna Poduri +27 more
TL;DR: In this paper, the authors used targeted and exome sequencing on DNA from resected brain samples and non-brain samples from 53 patients with focal cortical dysplasia (FCD) or hemimegalencephaly (HME) to identify pathogenic germline and mosaic mutations in multiple PI3K/AKT pathway genes in 9 patients and a likely pathogenic variant in 1 additional patient.
References
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Primer3—new capabilities and interfaces
Andreas Untergasser,Ioana Cutcutache,Triinu Koressaar,Jian Ye,Brant C. Faircloth,Maido Remm,Steven G. Rozen +6 more
TL;DR: Primer3’s current capabilities are described, including more accurate thermodynamic models in the primer design process, both to improve melting temperature prediction and to reduce the likelihood that primers will form hairpins or dimers.
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High frequency of mutations of the PIK3CA gene in human cancers
Yardena Samuels,Zhenghe Wang,Alberto Bardelli,Natalie Silliman,Janine Ptak,Steve Szabo,Hai Yan,Adi F. Gazdar,Steven M. Powell,Gregory J. Riggins,James K V Willson,Sanford D. Markowitz,Kenneth W. Kinzler,Bert Vogelstein,Victor E. Velculescu +14 more
TL;DR: To determine if PI3Ks are genetically altered in tumorigenesis, they were sequenced in human for the first time and the results allowed us to assess the importance of phosphatidylinositol 3-kinases in neoplasia.
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COSMIC: exploring the world's knowledge of somatic mutations in human cancer
Simon A. Forbes,David Beare,Prasad Gunasekaran,Kenric Leung,Nidhi Bindal,Harry Boutselakis,Minjie Ding,Sally Bamford,Charlotte G. Cole,Sari Ward,Chai Yin Kok,Mingming Jia,Tisham De,Jon W. Teague,Michael R. Stratton,Ultan McDermott,Peter J. Campbell +16 more
TL;DR: COSMIC, the Catalogue Of Somatic Mutations In Cancer is the world's largest and most comprehensive resource for exploring the impact of somatic mutations in human cancer, describing 2 002 811 coding point mutations in over one million tumor samples and across most human genes.
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High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number
Benjamin J. Hindson,Kevin D. Ness,Donald A. Masquelier,Phillip Belgrader,Nicholas J. Heredia,Anthony J. Makarewicz,Isaac J. Bright,Michael Y. Lucero,Amy L. Hiddessen,Tina C. Legler,Tyler K. Kitano,Michael R. Hodel,Jonathan Petersen,Paul Wyatt,Erin R. Steenblock,Pallavi Shah,Luc J. Bousse,Camille B. Troup,Jeffrey Clark Mellen,Dean K. Wittmann,Nicholas G. Erndt,Thomas H. Cauley,Ryan T. Koehler,Austin P. So,Simant Dube,Klint Rose,Luz Montesclaros,Shenglong Wang,David P. Stumbo,Shawn Hodges,Steven Romine,Fred P. Milanovich,Helen E. White,John F. Regan,George Karlin-Neumann,Christopher Hindson,Serge Saxonov,Bill W. Colston +37 more
TL;DR: A high-throughput droplet digital PCR system that enables processing of ∼2 million PCR reactions using conventional TaqMan assays with a 96-well plate workflow is described that will allow researchers to explore complex genetic landscapes, discover and validate new disease associations, and define a new era of molecular diagnostics.
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PI3K signalling: the path to discovery and understanding
TL;DR: The discovery of the phosphoinositide-binding PH, PX and FYVE domains as conduits of intracellular lipid signalling, the determination of the molecular function of the tumour suppressor PTEN and the identification of AKT and mTOR protein kinases as key regulators of cell growth are looked back at.
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