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Allelic heterogeneity of Proteus syndrome.
Buser A, Lindhurst MJ, Kondolf HC, Yourick MR, Keppler-Noreuil KM, Sapp JC, Biesecker LG. Buser A, et al. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005181. doi: 10.1101/mcs.a005181. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32327430 Free PMC article.
Proteus syndrome is a mosaic disorder that can cause progressive postnatal overgrowth of nearly any organ or tissue. To date, Proteus syndrome has been exclusively associated with the mosaic c.49G > A p....
Proteus syndrome is a mosaic disorder that can cause progressive postnatal overgrowth of nearly any organ or tissue. To date, …
Cardiothoracic imaging findings of Proteus syndrome.
Mirmomen SM, Arai AE, Turkbey EB, Bradley AJ, Sapp JC, Biesecker LG, Sirajuddin A. Mirmomen SM, et al. Sci Rep. 2021 Mar 22;11(1):6577. doi: 10.1038/s41598-021-86029-0. Sci Rep. 2021. PMID: 33753828 Free PMC article.
In this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53 individuals with a confirmed diagnosis of Proteus syndrome at our institution from 10/2001 to 10/2019 …
In this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort a …
A mouse model of Proteus syndrome.
Lindhurst MJ, Brinster LR, Kondolf HC, Shwetar JJ, Yourick MR, Shiferaw H, Keppler-Noreuil KM, Elliot G, Rivas C, Garrett L, Gomez-Rodriguez J, Sebire NJ, Hewitt SM, Schwartzberg PL, Biesecker LG. Lindhurst MJ, et al. Hum Mol Genet. 2019 Sep 1;28(17):2920-2936. doi: 10.1093/hmg/ddz116. Hum Mol Genet. 2019. PMID: 31194862 Free PMC article.
Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G > A p....VMs were the most frequent finding with a total of 69 found in 29 of 44 Proteus syndrome mice. Twenty-eight cysts and ectasia, freque …
Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G > A p....VMs wer …
A case report of Proteus syndrome (PS).
Zeng X, Wen X, Liang X, Wang L, Xu L. Zeng X, et al. BMC Med Genet. 2020 Jan 21;21(1):15. doi: 10.1186/s12881-020-0949-x. BMC Med Genet. 2020. PMID: 31964351 Free PMC article.
BACKGROUND: Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia. ...
BACKGROUND: Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progre …
Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.
Keppler-Noreuil KM, Lozier J, Oden N, Taneja A, Burton-Akright J, Sapp JC, Biesecker LG. Keppler-Noreuil KM, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):571-581. doi: 10.1002/ajmg.c.31735. Epub 2019 Sep 6. Am J Med Genet C Semin Med Genet. 2019. PMID: 31490637 Free PMC article.
Increased risk of thromboembolism has been recognized in individuals with mosaic overgrowth disorders, Proteus syndrome (PS) and PIK3CA-related overgrowth spectrum (PROS), including Klippel-Trenaunay syndrome and CLOVES syndrome. ...
Increased risk of thromboembolism has been recognized in individuals with mosaic overgrowth disorders, Proteus syndrome (PS) a …
Quantification of Proteus syndrome-associated lung disease.
Ours CA, Buser A, Hodges MB, Chen MY, Sapp JC, Gochuico BR, Biesecker LG. Ours CA, et al. Orphanet J Rare Dis. 2024 Feb 6;19(1):44. doi: 10.1186/s13023-023-03013-9. Orphanet J Rare Dis. 2024. PMID: 38321508 Free PMC article.
BACKGROUND: Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can develop emphysematous and cystic changes of the lung that may lead to progressive respiratory symptoms and require surgical intervention. Th …
BACKGROUND: Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can …
Scoliosis Associated with Proteus Syndrome: Report of 2 Cases and Review of the Literature.
Egea-Gámez RM, Galán-Olleros M, Martínez-González C, González-Díaz R. Egea-Gámez RM, et al. World Neurosurg. 2020 Jun;138:274-283. doi: 10.1016/j.wneu.2020.03.054. Epub 2020 Mar 17. World Neurosurg. 2020. PMID: 32194267 Review.
BACKGROUND: Proteus syndrome (PS) is a complex genetic disorder, characterized by the sporadic appearance of hamartomatous lesions that follow a mosaic pattern and have a progressive evolution. ...
BACKGROUND: Proteus syndrome (PS) is a complex genetic disorder, characterized by the sporadic appearance of hamartomatous les …
Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.
Pithadia DJ, Roman JW, Sapp JC, Biesecker LG, Darling TN. Pithadia DJ, et al. J Am Acad Dermatol. 2021 Feb;84(2):415-424. doi: 10.1016/j.jaad.2020.01.078. Epub 2020 Feb 7. J Am Acad Dermatol. 2021. PMID: 32035943 Free PMC article.
BACKGROUND: Proteus syndrome is an overgrowth disorder caused by a mosaic activating AKT1 variant. Hair abnormalities in Proteus syndrome have rarely been reported, and frequencies of such findings have not been elucidated. ...
BACKGROUND: Proteus syndrome is an overgrowth disorder caused by a mosaic activating AKT1 variant. Hair abnormalities in Pr …
Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.
Keppler-Noreuil KM, Burton-Akright J, Kleiner DE, Sapp JC, Lindhurst MJ, Han CG, Biesecker LG, Gochuico BR. Keppler-Noreuil KM, et al. Ann Am Thorac Soc. 2022 Nov;19(11):1871-1880. doi: 10.1513/AnnalsATS.202111-1214OC. Ann Am Thorac Soc. 2022. PMID: 35839129 Free PMC article.
Rationale: Limited information is available regarding cystic lung disease in Proteus syndrome, a rare overgrowth disorder caused by a somatic activating variant in AKT1. Objectives: To define the phenotype of cystic lung disease in Proteus syndrome. Me …
Rationale: Limited information is available regarding cystic lung disease in Proteus syndrome, a rare overgrowth disorder caus …
Ophthalmic manifestations and treatments of proteus syndrome: a case report and systematic review.
Jia RB, Wang YF, Jia RB. Jia RB, et al. Eur Rev Med Pharmacol Sci. 2023 Nov;27(21):10313-10321. doi: 10.26355/eurrev_202311_34306. Eur Rev Med Pharmacol Sci. 2023. PMID: 37975355 Free article.
BACKGROUND: Proteus syndrome (PS) is an extremely rare disorder with ocular manifestations. ...
BACKGROUND: Proteus syndrome (PS) is an extremely rare disorder with ocular manifestations. ...
36 results