ALBERT

All Library Books, journals and Electronic Records Telegrafenberg

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    facet.materialart.
    Unknown
    Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations (2010)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2010-08-24
    Description: The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129007/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129007/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bilguvar, Kaya -- Ozturk, Ali Kemal -- Louvi, Angeliki -- Kwan, Kenneth Y -- Choi, Murim -- Tatli, Burak -- Yalnizoglu, Dilek -- Tuysuz, Beyhan -- Caglayan, Ahmet Okay -- Gokben, Sarenur -- Kaymakcalan, Hande -- Barak, Tanyeri -- Bakircioglu, Mehmet -- Yasuno, Katsuhito -- Ho, Winson -- Sanders, Stephan -- Zhu, Ying -- Yilmaz, Sanem -- Dincer, Alp -- Johnson, Michele H -- Bronen, Richard A -- Kocer, Naci -- Per, Huseyin -- Mane, Shrikant -- Pamir, Mehmet Necmettin -- Yalcinkaya, Cengiz -- Kumandas, Sefer -- Topcu, Meral -- Ozmen, Meral -- Sestan, Nenad -- Lifton, Richard P -- State, Matthew W -- Gunel, Murat -- RC2 NS070477/NS/NINDS NIH HHS/ -- RC2 NS070477-01/NS/NINDS NIH HHS/ -- U01 MH081896/MH/NIMH NIH HHS/ -- U24 NS051869-02S1/NS/NINDS NIH HHS/ -- UL1 RR024139NIH/RR/NCRR NIH HHS/ -- UO1MH081896/MH/NIMH NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2010 Sep 9;467(7312):207-10. doi: 10.1038/nature09327. Epub 2010 Aug 22.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20729831" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Base Sequence ; Brain/*abnormalities/growth & development/pathology ; Brain Diseases/*genetics/pathology ; DNA Mutational Analysis/*methods ; Female ; Genes, Recessive ; Humans ; Male ; Mice ; Microcephaly/genetics/pathology ; Molecular Sequence Data ; Mutation ; Nerve Tissue Proteins/*genetics/metabolism ; Pedigree
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 2
    facet.materialart.
    Unknown
    Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO (2013)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2013-01-26
    Description: We report genomic analysis of 300 meningiomas, the most common primary brain tumors, leading to the discovery of mutations in TRAF7, a proapoptotic E3 ubiquitin ligase, in nearly one-fourth of all meningiomas. Mutations in TRAF7 commonly occurred with a recurrent mutation (K409Q) in KLF4, a transcription factor known for its role in inducing pluripotency, or with AKT1(E17K), a mutation known to activate the PI3K pathway. SMO mutations, which activate Hedgehog signaling, were identified in ~5% of non-NF2 mutant meningiomas. These non-NF2 meningiomas were clinically distinctive-nearly always benign, with chromosomal stability, and originating from the medial skull base. In contrast, meningiomas with mutant NF2 and/or chromosome 22 loss were more likely to be atypical, showing genomic instability, and localizing to the cerebral and cerebellar hemispheres. Collectively, these findings identify distinct meningioma subtypes, suggesting avenues for targeted therapeutics.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Clark, Victoria E -- Erson-Omay, E Zeynep -- Serin, Akdes -- Yin, Jun -- Cotney, Justin -- Ozduman, Koray -- Avsar, Timucin -- Li, Jie -- Murray, Phillip B -- Henegariu, Octavian -- Yilmaz, Saliha -- Gunel, Jennifer Moliterno -- Carrion-Grant, Geneive -- Yilmaz, Baran -- Grady, Conor -- Tanrikulu, Bahattin -- Bakircioglu, Mehmet -- Kaymakcalan, Hande -- Caglayan, Ahmet Okay -- Sencar, Leman -- Ceyhun, Emre -- Atik, A Fatih -- Bayri, Yasar -- Bai, Hanwen -- Kolb, Luis E -- Hebert, Ryan M -- Omay, S Bulent -- Mishra-Gorur, Ketu -- Choi, Murim -- Overton, John D -- Holland, Eric C -- Mane, Shrikant -- State, Matthew W -- Bilguvar, Kaya -- Baehring, Joachim M -- Gutin, Philip H -- Piepmeier, Joseph M -- Vortmeyer, Alexander -- Brennan, Cameron W -- Pamir, M Necmettin -- Kilic, Turker -- Lifton, Richard P -- Noonan, James P -- Yasuno, Katsuhito -- Gunel, Murat -- T32 GM007205/GM/NIGMS NIH HHS/ -- T32GM07205/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- New York, N.Y. -- Science. 2013 Mar 1;339(6123):1077-80. doi: 10.1126/science.1233009. Epub 2013 Jan 24.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Neurosurgery, Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, CT 06510, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23348505" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Aged ; Aged, 80 and over ; Brain Neoplasms/classification/*genetics/pathology ; Chromosomes, Human, Pair 22/genetics ; DNA Mutational Analysis ; Female ; Genes, Neurofibromatosis 2 ; Genomic Instability ; Genomics ; Humans ; Kruppel-Like Transcription Factors/*genetics ; Male ; Meningeal Neoplasms/classification/*genetics/pathology ; Meningioma/classification/*genetics/pathology ; Middle Aged ; Mutation ; Neoplasm Grading ; Proto-Oncogene Proteins c-akt/*genetics ; Receptors, G-Protein-Coupled/*genetics ; Tumor Necrosis Factor Receptor-Associated Peptides and Proteins/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...