Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

Autor: Ioannis G. Koutlas, Ana-Lia Anbinder, Rana Alshagroud, Ana Sueli Rodrigues Cavalcante, Mohammed Al Kindi, Molly M. Crenshaw, Julie C. Sapp, Hannah Kondolf, Marjorie J. Lindhurst, Jeffrey N. Dudley, Jennifer J. Johnston, Elyse Ryan, Keith Rafferty, Arupa Ganguly, Leslie G. Biesecker

Publikováno v: HGG Advances, Vol 1, Iss 1, Pp 100009- (2020)

Summary: Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this

Externí odkaz: https://doaj.org/article/a0f4c2b0f4914489a3dac8b25fd7a8bc

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

Autor: Donald J. Corsmeier, Michael J. Evenson, Katinka Vigh-Conrad, Vincent Magrini, Beth A. Drolet, Nicole R. Bender, Robert K. Semple, Matthew Avenarius, Andrea L. Zaenglein, Jeffrey N. Dudley, Meagan Corliss, Jonathan W. Heusel, Ilona J. Frieden, Jennifer J. Johnston, Carrie C. Coughlin, Catherine E. Cottrell, Heather Ciliberto, Laura L. Tosi, Leslie G. Biesecker, Marjorie J. Lindhurst, Megha M. Tollefson, Olivia M. T. Davies, Michael T. Zimmermann

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 10
Cottrell, C E, Bender, N R, Zimmermann, M, Heusel, J, Corliss, M, Evenson, M, Magrini, V, Corsmeier, D J, Avenarius, M, Dudley, J N, Johnston, J, Lindhurst, M J, Vigh-Conrad, K, Davies, O M T, Coughlin, C C, Frieden, I J, Tollefson, M, Zaenglein, A L, Ciliberto, H, Tosi, L L, Semple, R K, Biesecker, L G & Drolet, B A 2021, ' Somatic PIK3R1 Variation as a Cause of Vascular Malformations and Overgrowth ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01211-z
Genetics in Medicine

Author(s): Cottrell, Catherine E; Bender, Nicole R; Zimmermann, Michael T; Heusel, Jonathan W; Corliss, Meagan; Evenson, Michael J; Magrini, Vincent; Corsmeier, Donald J; Avenarius, Matthew; Dudley, Jeffrey N; Johnston, Jennifer J; Lindhurst, Marjori

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f42821ecb36ee327aba37106bd604701
https://doi.org/10.1038/s41436-021-01211-z

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

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

Publikováno v: Hum Mol Genet

Proteus syndrome is a progressive overgrowth disorder with vascular malformations caused by mosaic expression of the AKT1 c.49G > A, p.(E17K) activating variant which was predicted to cause lethality if expressed ubiquitously. To test that hypothesis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e70edb700ad1c1a16cc0405a92ee24a
https://europepmc.org/articles/PMC7871364/

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

Autor: Leslie G. Biesecker, Arupa Ganguly, Julie C. Sapp, Jeffrey N. Dudley, Jennifer J. Johnston, Elyse Ryan, Rana Alshagroud, Mohammed Al Kindi, Molly M. Crenshaw, Ana-Lia Anbinder, Ioannis G. Koutlas, Marjorie J. Lindhurst, Ana Sueli Rodrigues Cavalcante, Keith Rafferty, Hannah C. Kondolf

Publikováno v: Human Genetics and Genomics Advances
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
HGG Advances, Vol 1, Iss 1, Pp 100009-(2020)
HGG Advances, Vol 3, Iss 1, Pp 100062-(2022)

Made available in DSpace on 2022-04-28T19:41:32Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-10-22 Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47931cff980b0356650d61b209a73b5d
https://doi.org/10.1016/j.xhgg.2021.100062

Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome

Autor: Marjorie J. Lindhurst, Cara H. Olsen, Thomas N. Darling, Rachna Patel, Neera R. Nathan, Kim M. Keppler-Noreuil, Leslie G. Biesecker, Molly M. Crenshaw

Publikováno v: Journal of the American Academy of Dermatology. 78:725-732

BACKGROUND: The plantar cerebriform connective tissue nevus (CCTN) is the most common and problematic cutaneous manifestation of Proteus syndrome. OBJECTIVE: To gain insights into CCTN pathogenesis and natural history. METHODS: The size and location

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5120b8a6bf56b26388d32c74d2acbae3
https://doi.org/10.1016/j.jaad.2017.10.018