PMC Links for Books (Select 2966558) - PMC

Select item 87514181.

Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome

Christopher A. Ours, Julie C. Sapp, Mia B. Hodges, Allison J. de Moya, Leslie G. Biesecker

Cold Spring Harb Mol Case Stud. 2021 Dec; 7(6): a006134. doi: 10.1101/mcs.a006134

PMCID:: PMC8751418

Abstract Article PDF–4.2M

Select item 79893242.

Proteus syndrome caused by novel somatic AKT1 duplication

Talal AlAnzi, Eman Al-mashharawi, Amal Alhashem

Saudi Med J. 2021 Jan 1; 42(1): 95–99. doi: 10.15537/smj.2021.1.25618

PMCID:: PMC7989324

Abstract Article PDF–1000K

Select item 79855013.

Cardiothoracic imaging findings of Proteus syndrome

S. Mojdeh Mirmomen, Andrew E. Arai, Evrim B. Turkbey, Andrew J. Bradley, Julie C. Sapp, Leslie G. Biesecker, Arlene Sirajuddin

Sci Rep. 2021; 11: 6577. Published online 2021 Mar 22. doi: 10.1038/s41598-021-86029-0

PMCID:: PMC7985501

Abstract Article PDF–1.5M

Select item 78713644.

Ubiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethality in mice

Marjorie J Lindhurst, Wenling Li, Nathaniel Laughner, Jasmine J Shwetar, Hannah C Kondolf, Xuefei Ma, Yoh-suke Mukouyama, Leslie G Biesecker

Hum Mol Genet. 2020 Oct 15; 29(20): 3350–3360. Published online 2020 Oct 8. doi: 10.1093/hmg/ddaa216

PMCID:: PMC7871364

Abstract Article PDF–1.7M

Select item 75200165.

A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome

Julie C. Sapp, Anna Buser, Jasmine Burton-Akright, Kim M. Keppler-Noreuil, Leslie G. Biesecker

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Dec; 181(4): 565–570. Published online 2019 Nov 6. doi: 10.1002/ajmg.c.31744

PMCID:: PMC7520016

Abstract Article PDF–168K

Select item 75095826.

Acne following Blaschko's lines in Proteus syndrome

Alexander M. Cartron, Deeti J. Pithadia, Anna Buser, Leslie G. Biesecker, Thomas N. Darling

JAAD Case Rep. 2020 Oct; 6(10): 1072–1074. Published online 2020 Aug 20. doi: 10.1016/j.jdcr.2020.08.015

PMCID:: PMC7509582

Article PDF–530K

Select item 74157377.

Hypertrichotic patches as a mosaic manifestation of Proteus syndrome

Deeti J. Pithadia, John W. Roman, Julie C. Sapp, Leslie G. Biesecker, Thomas N. Darling

J Am Acad Dermatol. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: J Am Acad Dermatol. 2021 Feb; 84(2): 415–424. Published online 2020 Feb 7. doi: 10.1016/j.jaad.2020.01.078

PMCID:: PMC7415737

Abstract Article PDF–668K

Select item 73043638.

Allelic heterogeneity of Proteus syndrome

Anna Buser, Marjorie J. Lindhurst, Hannah C. Kondolf, Miranda R. Yourick, Kim M. Keppler-Noreuil, Julie C. Sapp, Leslie G. Biesecker

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005181. doi: 10.1101/mcs.a005181

PMCID:: PMC7304363

Abstract Article PDF–3.7M

Select item 64075239.

Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome

Kim M. Keppler-Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Thomas N. Darling, Jasmine Burton-Akright, Mohammadhadi Bagheri, Eva Dombi, Ashlyn Gruber, Paul F. Jarosinski, Staci Martin, Neera Nathan, Scott M. Paul, Ronald E. Savage, Pamela L. Wolters, Brian Schwartz, Brigitte C. Widemann, Leslie G. Biesecker

Am J Hum Genet. 2019 Mar 7; 104(3): 484–491. Published online 2019 Feb 22. doi: 10.1016/j.ajhg.2019.01.015

PMCID:: PMC6407523

Abstract Article PDF–615K

Select item 572092210.

Quantifying survival in Patients with Proteus Syndrome

Julie C. Sapp, Lian Hu, Jean Zhao, Ashlyn Gruber, Brian Schwartz, Dora Ferrari, Leslie G. Biesecker

Genet Med. Author manuscript; available in PMC 2017 Dec 29.

Published in final edited form as: Genet Med. 2017 Dec; 19(12): 1376–1379. Published online 2017 Jun 29. doi: 10.1038/gim.2017.65

PMCID:: PMC5720922

Abstract Article PDF–120K

Select item 504270711.

Lack of Mutation-histopathology Correlation in a Patient with Proteus Syndrome

Meggie E. Doucet, Hadley M. Bloomhardt, Krzysztof Moroz, Marjorie J. Lindhurst, Leslie G. Biesecker

Am J Med Genet A. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: Am J Med Genet A. 2016 Jun; 170(6): 1422–1432. Published online 2016 Apr 26. doi: 10.1002/ajmg.a.37612

PMCID:: PMC5042707

Abstract Article PDF–860K

Select item 432069312.

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum

Kim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, Victoria ER 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, Leslie G Biesecker

Am J Med Genet A. 2014 Jul; 164(7): 1713–1733. Published online 2014 Apr 29. doi: 10.1002/ajmg.a.36552

PMCID:: PMC4320693

Abstract Article PDF–3.7M

Select item 427535413.

Myocardial Fat Overgrowth in Proteus Syndrome

H Hannoush, V Sachdev, A Brofferio, AE Arai, G LaRocca, J Sapp, S Sidenko, C Brenneman, LG Biesecker, KM Keppler-Noreuil

Am J Med Genet A. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Am J Med Genet A. 2015 Jan; 167(1): 103–110. Published online 2014 Nov 6. doi: 10.1002/ajmg.a.36773

PMCID:: PMC4275354

Abstract Article PDF–247K

Select item 346140814.

Mosaic Overgrowth with Fibroadipose Hyperplasia is Caused by Somatic Activating Mutations in PIK3CA

Marjorie J Lindhurst, Victoria ER Parker, Felicity Payne, Julie C Sapp, Simon Rudge, Julie Harris, Alison M Witkowski, Qifeng Zhang, Matthijs P Groeneveld, Carol E Scott, Allan Daly, Susan M Huson, Laura L Tosi, Michael L Cunningham, Thomas N Darling, Joseph Geer, Zoran Gucev, V. Reid Sutton, Christos Tziotzios, Adrian K Dixon, Timothy Helliwell, Stephen O’Rahilly, David B Savage, Michael JO Wakelam, Inês Barroso, Leslie G Biesecker, Robert K Semple

Nat Genet. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Nat Genet. 2012 Jun 24; 44(8): 928–933. Published online 2012 Jun 24. doi: 10.1038/ng.2332

PMCID:: PMC3461408

Abstract Article PDF–1.2M

Select item 346055115.

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Annapurna Poduri, Gilad D. Evrony, Xuyu Cai, Princess Christina Elhosary, Rameen Beroukhim, Maria K. Lehtinen, L. Benjamin Hills, Erin L. Heinzen, Anthony Hill, R. Sean Hill, Brenda J. Barry, Blaise F.D. Bourgeois, James J. Riviello, A. James Barkovich, Peter M. Black, Keith L. Ligon, Christopher A. Walsh

Neuron. Author manuscript; available in PMC 2012 Oct 12.

Published in final edited form as: Neuron. 2012 Apr 12; 74(1): 41–48. doi: 10.1016/j.neuron.2012.03.010

PMCID:: PMC3460551

Abstract Article PDF–2.3M

Select item 337028316.

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

Kyle C. Kurek, Valerie L. Luks, Ugur M. Ayturk, Ahmad I. Alomari, Steven J. Fishman, Samantha A. Spencer, John B. Mulliken, Margot E. Bowen, Guilherme L. Yamamoto, Harry P.W. Kozakewich, Matthew L. Warman

Am J Hum Genet. 2012 Jun 8; 90(6): 1108–1115. doi: 10.1016/j.ajhg.2012.05.006

PMCID:: PMC3370283

Abstract Article PDF–804K

Select item 324094117.

Progressive Overgrowth of the Cerebriform Connective Tissue Nevus in Patients with Proteus Syndrome

Thomas M. Beachkofsky, Julie C. Sapp, Leslie G. Biesecker, Thomas N. Darling

J Am Acad Dermatol. Author manuscript; available in PMC 2011 Dec 16.

Published in final edited form as: J Am Acad Dermatol. 2010 Nov; 63(5): 799–804. Published online 2010 Aug 14. doi: 10.1016/j.jaad.2009.12.012

PMCID:: PMC3240941

Abstract Article PDF–2.4M

Select item 320422118.

An Activating Mutation of AKT2 and Human Hypoglycemia

K. Hussain, B. Challis, N. Rocha, F. Payne, M. Minic, A. Thompson, A. Daly, C. Scott, J. Harris, B.J.L. Smillie, D.B. Savage, U. Ramaswami, P. De Lonlay, S. O’Rahilly, I. Barroso, R.K. Semple

Science. Author manuscript; available in PMC 2012 Apr 28.

Published in final edited form as: Science. 2011 Oct 28; 334(6055): 474. Published online 2011 Oct 6. doi: 10.1126/science.1210878

PMCID:: PMC3204221

Abstract Article PDF–575K

Select item 317953519.

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

Laura L. Tosi, Julie C. Sapp, Elizabeth S. Allen, Regis J. O’Keefe, Leslie G. Biesecker

J Child Orthop. 2011 Oct; 5(5): 319–327. Published online 2011 May 28. doi: 10.1007/s11832-011-0350-6

PMCID:: PMC3179535

Abstract Article PDF–1.3M

Select item 317041320.

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer, Jennifer J. Johnston, Erin M. Finn, Kathryn Peters, Joyce Turner, Jennifer L. Cannons, David Bick, Laurel Blakemore, Catherine Blumhorst, Knut Brockmann, Peter Calder, Natasha Cherman, Matthew A. Deardorff, David B. Everman, Gretchen Golas, Robert M. Greenstein, B. Maya Kato, Kim M. Keppler-Noreuil, Sergei A. Kuznetsov, Richard T. Miyamoto, Kurt Newman, David Ng, Kevin O’Brien, Steven Rothenberg, Douglas J. Schwartzentruber, Virender Singhal, Roberto Tirabosco, Joseph Upton, Shlomo Wientroub, Elaine H. Zackai, Kimberly Hoag, Tracey Whitewood-Neal, Pamela G. Robey, Pamela L. Schwartzberg, Thomas N. Darling, Laura L. Tosi, James C. Mullikin, Leslie G. Biesecker

N Engl J Med. Author manuscript; available in PMC 2012 Feb 18.

Published in final edited form as: N Engl J Med. 2011 Aug 18; 365(7): 611–619. Published online 2011 Jul 27. doi: 10.1056/NEJMoa1104017

PMCID:: PMC3170413

Abstract Article PDF–847K

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