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Proteus syndrome review: molecular, clinical, and pathologic features.
Cohen MM Jr. Cohen MM Jr. Clin Genet. 2014 Feb;85(2):111-9. doi: 10.1111/cge.12266. Epub 2013 Oct 23. Clin Genet. 2014. PMID: 23992099 Review.
Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those o …
Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in thi …
Advances in Skeletal Dysplasia Genetics.
Geister KA, Camper SA. Geister KA, et al. Annu Rev Genomics Hum Genet. 2015;16:199-227. doi: 10.1146/annurev-genom-090314-045904. Epub 2015 Apr 22. Annu Rev Genomics Hum Genet. 2015. PMID: 25939055 Free PMC article. Review.
The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk prediction, and therapeutic design....
The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk predict …
Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.
Nathan N, Keppler-Noreuil KM, Biesecker LG, Moss J, Darling TN. Nathan N, et al. Dermatol Clin. 2017 Jan;35(1):51-60. doi: 10.1016/j.det.2016.07.001. Dermatol Clin. 2017. PMID: 27890237 Free PMC article. Review.
Somatic mutations in genes of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway cause segmental overgrowth, hamartomas, and malignant tumors. Mosaicism for activating mutations in AKT1 or PIK3CA cause Proteus syndrome and PIK3CA-Related Overgrowth Spectrum, respectivel …
Somatic mutations in genes of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway cause segmental overgrowth, hamartomas, and malignant tumors. M …
Proteus syndrome.
Yasuda H, Yamamoto O, Hirokawa H, Asahi M, Kashimura M, Sakai A. Yasuda H, et al. Dermatology. 2001;203(2):180-4. doi: 10.1159/000051739. Dermatology. 2001. PMID: 11586023
A case of Proteus syndrome is presented, in which severe hemihypertrophy of the left trunk and left lower extremity, scoliosis, endometriosis and huge bizarre-shaped body tumors were observed. ...This syndrome has numerous features including hemihypertrophy, …
A case of Proteus syndrome is presented, in which severe hemihypertrophy of the left trunk and left lower extremity, scoliosis …
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. .. …
BACKGROUND: Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can …
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....Mice were phenotypically heterogeneous with lesions rarely observed before 12 months of age. VMs were the most frequent finding with a total …
Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G > A p....Mice we …
Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.
Al Kaissi A, Misof BM, Laccone F, Blouin S, Roschger P, Kircher SG, Shboul M, Mindler GT, Girsch W, Ganger R. Al Kaissi A, et al. Calcif Tissue Int. 2021 Nov;109(5):586-595. doi: 10.1007/s00223-021-00862-z. Epub 2021 May 18. Calcif Tissue Int. 2021. PMID: 34003338
Proteus syndrome is a rare genetic disorder, which is characterized by progressive, segmental, or patchy overgrowth of diverse tissues of all germ layers, including the skeleton. ...Our results indicate further that remodeling of primary bone might be disturbed or d …
Proteus syndrome is a rare genetic disorder, which is characterized by progressive, segmental, or patchy overgrowth of diverse …
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.
Ghusayni R, Sachdev M, Gallentine W, Mikati MA, McDonald MT. Ghusayni R, et al. Epileptic Disord. 2018 Feb 1;20(1):30-34. doi: 10.1684/epd.2018.0954. Epileptic Disord. 2018. PMID: 29444762
Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutation-related syndrome of Bannayan-Riley-Ruvalcaba. ...This case highlights the importance of early screening for PTEN mutations in cases of h …
Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutat …
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 …
Phenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy.
Flores-Sarnat L, Sarnat HB. Flores-Sarnat L, et al. Handb Clin Neurol. 2015;132:9-25. doi: 10.1016/B978-0-444-62702-5.00002-0. Handb Clin Neurol. 2015. PMID: 26564069 Review.
In some ENS phenotypes the association of melanocytic nevi with keratinocytic and sebaceous nevi, all sharing RAS mutations, predicts multisystemic involvement, in particular severe rickets and osseous anomalies. ...The impact of neurological and systemic manifestations is …
In some ENS phenotypes the association of melanocytic nevi with keratinocytic and sebaceous nevi, all sharing RAS mutations, predicts …
55 results