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There are 22291 results for: content related to: Caught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications

  1. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 396–398, K. Nakamura, M. Kato, J. Tohyama, T. Shiohama, K. Hayasaka, K. Nishiyama, H. Kodera, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto and H. Saitsu

    Version of Record online : 9 JUN 2013, DOI: 10.1111/cge.12188

  2. Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 2, May 2013, Pages: 122–130, GHAYDA M. MIRZAA, JEAN-BAPTISTE RIVIÈRE and WILLIAM B. DOBYNS

    Version of Record online : 16 APR 2013, DOI: 10.1002/ajmg.c.31361

  3. Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 166, Issue 2, June 2014, Pages: 156–172, Ghayda M. Mirzaa and Annapurna Poduri

    Version of Record online : 28 MAY 2014, DOI: 10.1002/ajmg.c.31401

  4. Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome

    Prenatal Diagnosis

    Volume 33, Issue 10, October 2013, Pages: 1010–1012, Daniel T. Swarr, Nahla Khalek, James Treat, Margaret A. Horton, Ghayda M. Mirzaa, Jean-Baptiste Riviere, William B. Dobyns and Elaine H. Zackai

    Version of Record online : 23 JUL 2013, DOI: 10.1002/pd.4178

  5. Prenatal diagnosis of MPPH syndrome

    Prenatal Diagnosis

    Volume 33, Issue 3, March 2013, Pages: 292–295, Bart De Keersmaecker, Hilde Van Esch, Dominique Van Schoubroeck, Filip Claus, Philippe Moerman and Luc De Catte

    Version of Record online : 24 JAN 2013, DOI: 10.1002/pd.4039

  6. mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review

    Clinical Genetics

    Accepted manuscript online: 11 SEP 2017, G. Gordo, J. Tenorio, P. Arias, F. Santos-Simarro, S. García-Miñaur, J.C. Moreno, J. Nevado, E. Vallespin, L. Rodriguez-Laguna, R. de Mena, I. Dapia, M. Palomares, Á. del Pozo, K. Ibañez, J.C. Silla, E. Barroso, V.L. Ruiz Pérez, V. Martinez-Glez and P. Lapunzina

    DOI: 10.1111/cge.13135

  7. Hypoglycaemia Represents a Clinically Significant Manifestation of PIK3CA- and CCND2-Associated Segmental Overgrowth

    Clinical Genetics

    Accepted manuscript online: 23 SEP 2017, M.D. JH, N. Hickson, I. Banerjee, P.G. Murray, D. Ram, K. Metcalfe, J. Clayton-Smith and S. Douzgou

    DOI: 10.1111/cge.13145

  8. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

    Annals of Neurology

    Volume 77, Issue 4, April 2015, Pages: 720–725, Alissa M. D'Gama, Ying Geng, Javier A. Couto, Beth Martin, Evan A. Boyle, Christopher M. LaCoursiere, Amer Hossain, Nicole E. Hatem, Brenda J. Barry, David J. Kwiatkowski, Harry V. Vinters, A. James Barkovich, Jay Shendure, Gary W. Mathern, Christopher A. Walsh and Annapurna Poduri

    Version of Record online : 26 FEB 2015, DOI: 10.1002/ana.24357

  9. Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of “PIK3CA-Related Overgrowth Spectrum”

    Human Mutation

    Volume 37, Issue 3, March 2016, Pages: 242–245, Nataliya Di Donato, Andreas Rump, Ghayda M. Mirzaa, Diana Alcantara, Antony Oliver, Evelin Schrock, William B. Dobyns and Mark O'Driscoll

    Version of Record online : 15 DEC 2015, DOI: 10.1002/humu.22933

  10. You have full text access to this OnlineOpen article
    PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 287–295, Kim M. Keppler-Noreuil, Jonathan J. Rios, Victoria E.R. Parker, Robert K. Semple, Marjorie J. Lindhurst, Julie C. Sapp, Ahmad Alomari, Marybeth Ezaki, William Dobyns and Leslie G. Biesecker

    Version of Record online : 31 DEC 2014, DOI: 10.1002/ajmg.a.36836

  11. You have free access to this content
    Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum

    Clinical Genetics

    Volume 91, Issue 1, January 2017, Pages: 79–85, V. Hucthagowder, A. Shenoy, M. Corliss, K.A. Vigh-Conrad, C. Storer, D.K. Grange and C.E. Cottrell

    Version of Record online : 26 JUL 2016, DOI: 10.1111/cge.12819

  12. Unilateral Vestibular Schwannoma and Meningiomas in a Patient with PIK3CA-Related Segmental Overgrowth: Co-occurrence of Mosaicism for Two Rare Disorders

    Clinical Genetics

    Accepted manuscript online: 24 JUL 2017, John R. Mills, Ann M. Moyer, Benjamin R. Kipp, Andrzej B. Poplawski, Ludwine M. Messiaen and Dusica Babovic-Vuksanovic

    DOI: 10.1111/cge.13099

  13. Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 172, Issue 4, December 2016, Pages: 402–421, Kim M. Keppler-Noreuil, Victoria E.R. Parker, Thomas N. Darling and Julian A. Martinez-Agosto

    Version of Record online : 18 NOV 2016, DOI: 10.1002/ajmg.c.31531

  14. You have full text access to this OnlineOpen article
    Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1713–1733, Kim M. Keppler-Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E.R. Parker, Cathy Blumhorst, Thomas Darling, Laura L. Tosi, Susan M. Huson, Richard W. Whitehouse, Eveliina Jakkula, Ian Grant, Meena Balasubramanian, Kate E. Chandler, Jamie L. Fraser, Zoran Gucev, Yanick J. Crow, Leslie Manace Brennan, Robin Clark, Elizabeth A. Sellars, Loren DM Pena, Vidya Krishnamurty, Andrew Shuen, Nancy Braverman, Michael L. Cunningham, V. Reid Sutton, Velibor Tasic, John M. Graham Jr., Joseph Geer Jr., Alex Henderson, Robert K. Semple and Leslie G. Biesecker

    Version of Record online : 29 APR 2014, DOI: 10.1002/ajmg.a.36552

  15. You have full text access to this OnlineOpen article
    TGF-β regulates the proliferation of lung adenocarcinoma cells by inhibiting PIK3R3 expression

    Molecular Carcinogenesis

    Volume 54, Issue S1, July 2015, Pages: E162–E171, Guihua Wang, Xi Yang, Yuan Jin, Yu Deng, Xuelai Luo, Junbo Hu and Jing Wang

    Version of Record online : 5 NOV 2014, DOI: 10.1002/mc.22243

  16. Detecting somatic mosaicism: considerations and clinical implications

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 554–562, A.S.A. Cohen, S.L. Wilson, J. Trinh and X.C. Ye

    Version of Record online : 7 OCT 2014, DOI: 10.1111/cge.12502

  17. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1659–1667, Gareth Baynam, Angela Overkov, Mark Davis, Kym Mina, Lyn Schofield, Richard Allcock, Nigel Laing, Matthew Cook, Hugh Dawkins and Jack Goldblatt

    Version of Record online : 6 APR 2015, DOI: 10.1002/ajmg.a.37070

  18. Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 907–909, Toshiki Takenouchi, Yoshiaki Sakamoto, Chiharu Torii, Kenichiro Hata, Rika Kosaki and Kenjiro Kosaki

    Version of Record online : 3 MAR 2015, DOI: 10.1002/ajmg.a.36947

  19. 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1685–1740, Stephen R. Braddock, Robert J. Lipinski, Marc S. Williams and John C. Carey

    Version of Record online : 22 MAY 2015, DOI: 10.1002/ajmg.a.37107

  20. You have free access to this content
    Class IA phosphatidylinositol 3-kinase regulates osteoclastic bone resorption through protein kinase B–mediated vesicle transport

    Journal of Bone and Mineral Research

    Volume 27, Issue 12, December 2012, Pages: 2464–2475, Masahiro Shinohara, Masaki Nakamura, Hironari Masuda, Jun Hirose, Yuho Kadono, Mitsuyasu Iwasawa, Yuuichi Nagase, Kohjiro Ueki, Takashi Kadowaki, Takehiko Sasaki, Shigeaki Kato, Hiroaki Nakamura, Sakae Tanaka and Hiroshi Takayanagi

    Version of Record online : 19 NOV 2012, DOI: 10.1002/jbmr.1703