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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
Koutlas IG, Anbinder AL, Alshagroud R, Rodrigues Cavalcante AS, Al Kindi M, Crenshaw MM, Sapp JC, Kondolf H, Lindhurst MJ, Dudley JN, Johnston JJ, Ryan E, Rafferty K, Ganguly A, Biesecker LG. Koutlas IG, et al. Among authors: kondolf h. HGG Adv. 2020 Aug 14;1(1):100009. doi: 10.1016/j.xhgg.2020.100009. eCollection 2020 Oct 22. HGG Adv. 2020. PMID: 35047831 Free PMC article.
Erratum: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
Koutlas IG, Anbinder AL, Alshagroud R, Rodrigues Cavalcante AS, Al Kindi M, Crenshaw MM, Sapp JC, Kondolf H, Lindhurst MJ, Dudley JN, Johnston JJ, Ryan E, Rafferty K, Ganguly A, Biesecker LG. Koutlas IG, et al. Among authors: kondolf h. HGG Adv. 2021 Oct 26;3(1):100062. doi: 10.1016/j.xhgg.2021.100062. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35051255 Free PMC article.
Allelic heterogeneity of Proteus syndrome.
Buser A, Lindhurst MJ, Kondolf HC, Yourick MR, Keppler-Noreuil KM, Sapp JC, Biesecker LG. Buser A, et al. Among authors: kondolf hc. 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.
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. Among authors: kondolf hc. Hum Mol Genet. 2019 Sep 1;28(17):2920-2936. doi: 10.1093/hmg/ddz116. Hum Mol Genet. 2019. PMID: 31194862 Free PMC article.
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA. Al-Olabi L, et al. Among authors: kondolf h. J Clin Invest. 2018 Apr 2;128(4):1496-1508. doi: 10.1172/JCI98589. Epub 2018 Mar 12. J Clin Invest. 2018. PMID: 29461977 Free PMC article.
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA. Al-Olabi L, et al. Among authors: kondolf h. J Clin Invest. 2018 Nov 1;128(11):5185. doi: 10.1172/JCI124649. Epub 2018 Nov 1. J Clin Invest. 2018. PMID: 30382944 Free PMC article. No abstract available.
GSDMB is increased in IBD and regulates epithelial restitution/repair independent of pyroptosis.
Rana N, Privitera G, Kondolf HC, Bulek K, Lechuga S, De Salvo C, Corridoni D, Antanaviciute A, Maywald RL, Hurtado AM, Zhao J, Huang EH, Li X, Chan ER, Simmons A, Bamias G, Abbott DW, Heaney JD, Ivanov AI, Pizarro TT. Rana N, et al. Among authors: kondolf hc. Cell. 2022 Jan 20;185(2):283-298.e17. doi: 10.1016/j.cell.2021.12.024. Epub 2022 Jan 11. Cell. 2022. PMID: 35021065 Free PMC article.
14 results