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We began analyzing https://www.nature.com/articles/ng.2331, but it redirected us to https://www.nature.com/articles/ng.2331. The analysis below is for the second page.

Title[redir]:
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes | Nature Genetics
Description:
William Dobyns and colleagues report de novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA in the sporadic overgrowth syndromes megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP). Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features1,2,3,4,5. We performed exome sequencing in 3 families with MCAP or MPPH, and our initial observations were confirmed in exomes from 7 individuals with MCAP and 174 control individuals, as well as in 40 additional subjects with megalencephaly, using a combination of Sanger sequencing, restriction enzyme assays and targeted deep sequencing. We identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway. These include 2 mutations in AKT3, 1 recurrent mutation in PIK3R2 in 11 unrelated families with MPPH and 15 mostly postzygotic mutations in PIK3CA in 23 individuals with MCAP and 1 with MPPH. Our data highlight the central role of PI3K-AKT signaling in vascular, limb and brain development and emphasize the power of massively parallel sequencing in a challenging context of phenotypic and genetic heterogeneity combined with postzygotic mosaicism.

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  • Education
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Custom-built

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Keywords {πŸ”}

article, google, scholar, cas, genetics, nature, mutations, genet, university, department, human, canada, cancer, usa, medical, research, akt, sequencing, kinase, mutation, hospital, pikca, access, nat, genome, institute, rare, cell, ontario, spectrum, brain, syndrome, washington, content, data, disease, genes, development, med, center, cookies, journal, germline, syndromes, malformation, disorders, study, clinical, seattle, ottawa,

Topics {βœ’οΈ}

nature portfolio permissions reprints privacy policy advertising nature 455 nature 467 nature social media east lansing author information authors cancer research uk medical research council leukaemia lymphoma research integrative brain research middle c-terminal hydrophobic domain sequence alignment/map format author correspondence akt-mtor signalling axis megalencephaly-polymicrogyria-polydactyly-hydrocephalus megalencephaly-polydactyly-polymicrogyria-hydrocephalus springerlink instant access rare cancer-specific mutations health research autism spectrum disorders megalencephaly-capillary malformation data highlight serine/threonine kinase akt3 de novo germline de novo mutations sporadic overgrowth disorders permissions postnatal brain development institutional subscriptions read templated nucleotide addition m-cm network human capillary malformation population-scale sequencing macrocephaly-capillary malformation macrocephaly capillary malformation closely related disorders related megalencephaly syndromes severe insulin resistance pten protein stability personal data exome sequencing project privacy germline pten mutation pi3k-akt signaling rare disease genes

Schema {πŸ—ΊοΈ}

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         headline:De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
         description:William Dobyns and colleagues report de novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA in the sporadic overgrowth syndromes megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP). Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features1,2,3,4,5. We performed exome sequencing in 3 families with MCAP or MPPH, and our initial observations were confirmed in exomes from 7 individuals with MCAP and 174 control individuals, as well as in 40 additional subjects with megalencephaly, using a combination of Sanger sequencing, restriction enzyme assays and targeted deep sequencing. We identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway. These include 2 mutations in AKT3, 1 recurrent mutation in PIK3R2 in 11 unrelated families with MPPH and 15 mostly postzygotic mutations in PIK3CA in 23 individuals with MCAP and 1 with MPPH. Our data highlight the central role of PI3K-AKT signaling in vascular, limb and brain development and emphasize the power of massively parallel sequencing in a challenging context of phenotypic and genetic heterogeneity combined with postzygotic mosaicism.
         datePublished:2012-06-24T00:00:00Z
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      headline:De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
      description:William Dobyns and colleagues report de novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA in the sporadic overgrowth syndromes megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP). Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features1,2,3,4,5. We performed exome sequencing in 3 families with MCAP or MPPH, and our initial observations were confirmed in exomes from 7 individuals with MCAP and 174 control individuals, as well as in 40 additional subjects with megalencephaly, using a combination of Sanger sequencing, restriction enzyme assays and targeted deep sequencing. We identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway. These include 2 mutations in AKT3, 1 recurrent mutation in PIK3R2 in 11 unrelated families with MPPH and 15 mostly postzygotic mutations in PIK3CA in 23 individuals with MCAP and 1 with MPPH. Our data highlight the central role of PI3K-AKT signaling in vascular, limb and brain development and emphasize the power of massively parallel sequencing in a challenging context of phenotypic and genetic heterogeneity combined with postzygotic mosaicism.
      datePublished:2012-06-24T00:00:00Z
      dateModified:2012-06-24T00:00:00Z
      pageStart:934
      pageEnd:940
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      keywords:
         Cell signalling
         Disease genetics
         Growth disorders
         Mutation
         Biomedicine
         general
         Human Genetics
         Cancer Research
         Agriculture
         Gene Function
         Animal Genetics and Genomics
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            name:Ghayda M Mirzaa
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      name:Nature Genetics
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         1546-1718
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      volumeNumber:44
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      name:Gâkhan Uyanik
      affiliation:
            name:Institute of Human Genetics, University Medical Center HamburgҀ“Eppendorf
            address:
               name:Institute of Human Genetics, University Medical Center HamburgҀ“Eppendorf, Hamburg, Germany
               type:PostalAddress
            type:Organization
      name:Rosanna Weksberg
      affiliation:
            name:Hospital for Sick Children
            address:
               name:Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Canada
               type:PostalAddress
            type:Organization
      name:Birgit Zirn
      affiliation:
            name:University of Goettingen
            address:
               name:Department of Neuropediatrics, University of Goettingen, Goettingen, Germany
               type:PostalAddress
            type:Organization
      name:Chandree L Beaulieu
      affiliation:
            name:Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
            address:
               name:Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
               type:PostalAddress
            type:Organization
      name:Jacek Majewski
      affiliation:
            name:McGill University
            address:
               name:Department of Human Genetics, McGill University, Montreal, Canada
               type:PostalAddress
            type:Organization
      name:Dennis E Bulman
      affiliation:
            name:Ottawa Hospital Research Institute, University of Ottawa
            address:
               name:Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Canada
               type:PostalAddress
            type:Organization
      name:Mark O'Driscoll
      affiliation:
            name:Genome Damage & Stability Centre, University of Sussex
            address:
               name:Genome Damage & Stability Centre, University of Sussex, Falmer, UK
               type:PostalAddress
            type:Organization
      name:Jay Shendure
      affiliation:
            name:University of Washington
            address:
               name:Department of Genome Sciences, University of Washington, Seattle, USA
               type:PostalAddress
            type:Organization
      name:John M Graham
      affiliation:
            name: Cedars-Sinai Medical Center, Medical Genetics Institute, Los Angeles, California, USA.
            address:
               name: Cedars-Sinai Medical Center, Medical Genetics Institute, Los Angeles, California, USA.,
               type:PostalAddress
            type:Organization
      name:Kym M Boycott
      affiliation:
            name:Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
            address:
               name:Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
               type:PostalAddress
            type:Organization
            name:Children's Hospital of Eastern Ontario
            address:
               name:Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada
               type:PostalAddress
            type:Organization
      name:William B Dobyns
      affiliation:
            name:Center for Integrative Brain Research, Seattle Children's Hospital
            address:
               name:Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, USA
               type:PostalAddress
            type:Organization
            name:University of Washington
            address:
               name:Department of Pediatrics, University of Washington, Seattle, USA
               type:PostalAddress
            type:Organization
            name:University of Washington
            address:
               name:Department of Neurology, University of Washington, Seattle, USA
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, USA
      name:Department of Human Genetics, University of Chicago, Chicago, USA
      name:Department of Genome Sciences, University of Washington, Seattle, USA
      name:Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
      name:Genome Damage & Stability Centre, University of Sussex, Falmer, UK
      name:Department of Pediatrics and Human Development, Michigan State University, East Lansing, USA
      name:Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, USA
      name:Genome Quebec Innovation Centre, McGill University, Montreal, Canada
      name:Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, USA
      name:Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada
      name:Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
      name:Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, USA
      name:Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, USA
      name:Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, USA
      name: Cedars-Sinai Medical Center, Medical Genetics Institute, Los Angeles, California, USA.,
      name:Department of Human Genetics, University Hospital Essen, Essen, Germany
      name:Department of Paediatrics, Queen's University, Kingston, Canada
      name:Department of Medical Genetics, University of British Columbia, Vancouver, Canada
      name:Department of Medical Genetics, University of Calgary, Calgary, Canada
      name:Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Canada
      name:Department of Dermatology, Medical College of Wisconsin, Milwaukee, USA
      name:Department of Pediatrics, Medical College of Wisconsin, Milwaukee, USA
      name:Department of Medical Genetics, University of Calgary, Calgary, Canada
      name:Department of Medical Genetics, University of Calgary, Calgary, Canada
      name:Department of Medical Genetics, MassGeneral Hospital for Children, Boston, USA
      name:Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
      name:Department of Genetics, North York General Hospital, Toronto, Canada
      name:Providence Child Neurology, Providence Sacred Heart Medical Center and Children's Hospital, Spokane, USA
      name:Clinical Genetics Department, St George's Hospital, University of London, London, UK
      name:Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel
      name:Institute of Human Genetics, University Medical Center HamburgҀ“Eppendorf, Hamburg, Germany
      name:Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Canada
      name:Department of Neuropediatrics, University of Goettingen, Goettingen, Germany
      name:Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
      name:Department of Human Genetics, McGill University, Montreal, Canada
      name:Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Canada
      name:Genome Damage & Stability Centre, University of Sussex, Falmer, UK
      name:Department of Genome Sciences, University of Washington, Seattle, USA
      name: Cedars-Sinai Medical Center, Medical Genetics Institute, Los Angeles, California, USA.,
      name:Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada
      name:Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada
      name:Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, USA
      name:Department of Pediatrics, University of Washington, Seattle, USA
      name:Department of Neurology, University of Washington, Seattle, USA
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