Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma.
TSC2
everolimus
follow-up
rhabdomyoma
tuberous sclerosis complex (TSC)
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
17 Aug 2023
17 Aug 2023
Historique:
received:
30
06
2023
revised:
14
08
2023
accepted:
15
08
2023
medline:
28
8
2023
pubmed:
26
8
2023
entrez:
26
8
2023
Statut:
epublish
Résumé
Tuberous sclerosis complex (TSC) is a multisystem disorder characterized by seizures, neuropsychiatric disorders, and tumors of the heart, brain, skin, lungs, and kidneys. We present a three-year follow-up of a patient with TSC-associated rhabdomyoma detected in utero. Genetic examination of the fetus and the parents revealed a de novo variant in the
Identifiants
pubmed: 37629066
pii: ijms241612886
doi: 10.3390/ijms241612886
pmc: PMC10454323
pii:
doi:
Substances chimiques
Everolimus
9HW64Q8G6G
MTOR Inhibitors
0
TOR Serine-Threonine Kinases
EC 2.7.11.1
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
Transpl Int. 2015 Mar;28(3):370-2
pubmed: 25363420
Biologics. 2013;7:211-21
pubmed: 24143074
Acta Paediatr Suppl. 2006 Apr;450:76-85
pubmed: 16817681
Epilepsia. 2018 Jun;59(6):1188-1197
pubmed: 29727013
BMC Bioinformatics. 2008 Jan 23;9:40
pubmed: 18215316
Curr Biol. 2003 Aug 5;13(15):1259-68
pubmed: 12906785
J Turk Ger Gynecol Assoc. 2020 Dec 4;21(4):255-259
pubmed: 33274615
Am J Cardiol. 1990 Nov 15;66(17):1247-9
pubmed: 2239731
Pediatr Cardiol. 2017 Oct;38(7):1478-1484
pubmed: 28780710
Mol Cell. 2012 Aug 24;47(4):535-46
pubmed: 22795129
Lancet. 2013 Mar 9;381(9869):817-24
pubmed: 23312829
Pediatr Neurol. 2021 Oct;123:50-66
pubmed: 34399110
N Engl J Med. 2006 Sep 28;355(13):1345-56
pubmed: 17005952
Nat Commun. 2017 Jun 15;8:15816
pubmed: 28643795
Cardiol Young. 2018 Jul;28(7):903-909
pubmed: 29759095
J Chem Neuroanat. 2021 Jul;114:101960
pubmed: 33915267
Eur J Hum Genet. 2022 Feb;30(2):150-159
pubmed: 33981013
Brain. 2023 Jul 3;146(7):2694-2710
pubmed: 36806388
Novartis Found Symp. 2004;262:148-54; discussion 154-9, 265-8
pubmed: 15562827
Epilepsia. 1997 Dec;38(12):1270-4
pubmed: 9578521
Ann N Y Acad Sci. 1991;615:125-7
pubmed: 2039137
Lancet. 2008 Aug 23;372(9639):657-68
pubmed: 18722871
Neuroscience. 2017 Jan 26;341:112-153
pubmed: 27889578
Childs Nerv Syst. 2021 Dec;37(12):3897-3899
pubmed: 34008055
Nat Protoc. 2010 Apr;5(4):725-38
pubmed: 20360767
Bioinformatics. 2015 Aug 15;31(16):2745-7
pubmed: 25851949
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Pediatrics. 2006 Oct;118(4):e1146-51
pubmed: 16940165
Genet Mol Biol. 2017 Jan-Mar;40(1):69-79
pubmed: 28222202
Acta Neurol Scand Suppl. 2011;(192):5-15
pubmed: 22061176
J Matern Fetal Neonatal Med. 2023 Dec;36(1):2197099
pubmed: 37031967
Front Oncol. 2014 Apr 14;4:64
pubmed: 24782981
Br J Obstet Gynaecol. 1990 Dec;97(12):1154-7
pubmed: 2279023
Front Pediatr. 2023 Feb 15;11:1109646
pubmed: 36873633
Am J Med Genet. 1990 Dec;37(4):443-6
pubmed: 2260584
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
Nat Rev Dis Primers. 2016 May 26;2:16035
pubmed: 27226234
J Obstet Gynaecol Res. 2017 Aug;43(8):1350-1352
pubmed: 28557245
Cell. 1993 Dec 31;75(7):1305-15
pubmed: 8269512
Exp Cell Res. 2013 Dec 10;319(20):3170-81
pubmed: 24001738
Science. 1997 Aug 8;277(5327):805-8
pubmed: 9242607
Eur J Hum Genet. 2015 Dec;23(12):1665-72
pubmed: 25782670
Cell Rep. 2022 May 17;39(7):110824
pubmed: 35584673
Genet Med. 2022 Jul;24(7):1407-1414
pubmed: 35802134