Germline
FG repeats
NUP98 variants
Rothmund–Thomson spectrum
endocrine perturbation
intrinsic disordered regions
juvenile cataracts
protein molecular modeling
whole exome sequencing
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:
16 Feb 2023
16 Feb 2023
Historique:
received:
22
12
2022
revised:
08
02
2023
accepted:
14
02
2023
entrez:
25
2
2023
pubmed:
26
2
2023
medline:
3
3
2023
Statut:
epublish
Résumé
Two adult siblings born to first-cousin parents presented a clinical phenotype reminiscent of Rothmund-Thomson syndrome (RTS), implying fragile hair, absent eyelashes/eyebrows, bilateral cataracts, mottled pigmentation, dental decay, hypogonadism, and osteoporosis. As the clinical suspicion was not supported by the sequencing of
Identifiants
pubmed: 36835439
pii: ijms24044028
doi: 10.3390/ijms24044028
pmc: PMC9965077
pii:
doi:
Substances chimiques
Nuclear Pore Complex Proteins
0
Nup98 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Italian Ministry of Health
ID : 08C624
Organisme : pan-European research infrastructure for Biobanking and BioMolecular Resources Research Infrastructure
Références
Adv Exp Med Biol. 2013;767:161-84
pubmed: 23161011
Nucleic Acids Res. 2015 Oct 15;43(18):e121
pubmed: 26109352
Bioinformatics. 2015 Aug 15;31(16):2745-7
pubmed: 25851949
J Mol Biol. 2016 May 22;428(10 Pt A):2011-24
pubmed: 26791761
Skin Health Dis. 2021 Feb 12;1(1):e12
pubmed: 35664819
J Clin Invest. 2016 Feb;126(2):543-59
pubmed: 26731471
Eur J Hum Genet. 2016 Oct;24(10):1388-95
pubmed: 27071718
Dis Model Mech. 2022 Mar 1;15(3):
pubmed: 35107131
Cell Cycle. 2016 Sep;15(17):2275-87
pubmed: 27097363
Methods. 2001 Dec;25(4):402-8
pubmed: 11846609
Curr Biol. 2015 Oct 19;25(20):R1002-18
pubmed: 26485365
Cell. 2010 Feb 5;140(3):360-71
pubmed: 20144760
Genet Mol Biol. 2021 Aug 06;44(3):e20200332
pubmed: 34358284
Genes Dev. 2016 Oct 15;30(20):2253-2258
pubmed: 27807035
Biophys J. 2018 Feb 27;114(4):856-869
pubmed: 29490246
Elife. 2021 Feb 25;10:
pubmed: 33629655
Cytogenet Genome Res. 2017;152(3):117-121
pubmed: 28854430
Histochem Cell Biol. 2018 Dec;150(6):593-605
pubmed: 30361777
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Orphanet J Rare Dis. 2010 Jan 29;5:2
pubmed: 20113479
Genome Biol. 2016 Jun 06;17(1):122
pubmed: 27268795
Elife. 2017 Feb 21;6:
pubmed: 28221134
Curr Opin Cell Biol. 2016 Jun;40:153-160
pubmed: 27085162
Genes (Basel). 2021 Nov 29;12(12):
pubmed: 34946868
PLoS Comput Biol. 2008 Aug 08;4(8):e1000145
pubmed: 18688269
Nat Commun. 2020 Nov 20;11(1):5918
pubmed: 33219223
Cell. 2015 Oct 22;163(3):734-45
pubmed: 26456112
Am J Hum Genet. 2019 Sep 5;105(3):625-630
pubmed: 31303264
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Mol Cell. 2017 Apr 6;66(1):63-76.e6
pubmed: 28366641
Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10406-11
pubmed: 20498086
Mol Biol Cell. 2007 Mar;18(3):1018-29
pubmed: 17215516
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Cold Spring Harb Symp Quant Biol. 2010;75:585-97
pubmed: 21502404
Nucleic Acids Res. 2017 Jul 3;45(W1):W222-W228
pubmed: 28453649
J Cell Biol. 1999 Mar 22;144(6):1097-112
pubmed: 10087256
BMC Plant Biol. 2020 Jun 26;20(1):292
pubmed: 32586274
Cancer Res. 2006 May 1;66(9):4584-90
pubmed: 16651408
Nat Rev Mol Cell Biol. 2017 Feb;18(2):73-89
pubmed: 27999437
Proteins. 2008 Apr;71(1):189-94
pubmed: 17932917
Nat Genet. 2014 Mar;46(3):310-5
pubmed: 24487276
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Int J Biol Macromol. 2021 Apr 1;175:156-170
pubmed: 33548309
Curr Opin Struct Biol. 2015 Jun;32:102-12
pubmed: 25863585
Int J Mol Sci. 2018 Apr 06;19(4):
pubmed: 29642415
J Biol Chem. 2001 Aug 3;276(31):29268-74
pubmed: 11387327
Mol Cell Biol. 1999 Jan;19(1):764-76
pubmed: 9858599
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
Curr Opin Cell Biol. 2011 Feb;23(1):65-70
pubmed: 21030234
Semin Cell Dev Biol. 2011 Aug;22(6):572-8
pubmed: 21439391