Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel
Adult
Aged
Amyloid Neuropathies, Familial
Amyloidosis
Amyloidosis, Familial
/ diagnosis
Corneal Diseases
Corneal Dystrophies, Hereditary
Exome
Family Health
Female
Fundus Oculi
Gelsolin
/ chemistry
Genetic Association Studies
Glutamic Acid
/ chemistry
Humans
Lysine
/ chemistry
Male
Middle Aged
Mutation
Optic Nerve
/ pathology
Optic Nerve Diseases
Phenotype
Protein Folding
Tomography, Optical Coherence
GSN
Meretoja syndrome
cutis laxa
gelsolin amyloidosis
heart arrhythmia
lattice corneal dystrophy
optic neuropathy
optical coherence tomography
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:
22 Jan 2021
22 Jan 2021
Historique:
received:
22
12
2020
revised:
11
01
2021
accepted:
14
01
2021
entrez:
27
1
2021
pubmed:
28
1
2021
medline:
26
5
2021
Statut:
epublish
Résumé
Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic
Identifiants
pubmed: 33499149
pii: ijms22031084
doi: 10.3390/ijms22031084
pmc: PMC7865823
pii:
doi:
Substances chimiques
Gelsolin
0
Glutamic Acid
3KX376GY7L
Lysine
K3Z4F929H6
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Javna Agencija za Raziskovalno Dejavnost RS
ID : J3-1750
Références
Am J Case Rep. 2018 Mar 30;19:374-381
pubmed: 29599423
Hum Mol Genet. 2018 Jan 1;27(1):53-65
pubmed: 29069428
Case Rep Med. 2017;2017:2843417
pubmed: 28250773
Nat Genet. 1992 Oct;2(2):157-60
pubmed: 1338910
Crit Rev Biochem Mol Biol. 2012 May-Jun;47(3):282-96
pubmed: 22360545
BMC Bioinformatics. 2013 Jun 18;14:195
pubmed: 23773188
Acta Ophthalmol. 2009 Nov;87(8):813-9
pubmed: 19832730
J Mol Biol. 2002 Dec 6;324(4):691-702
pubmed: 12460571
Nucleic Acids Res. 2018 Jul 2;46(W1):W296-W303
pubmed: 29788355
Mol Vis. 2020 May 02;26:345-354
pubmed: 32368002
Sci Rep. 2016 Sep 16;6:33463
pubmed: 27633054
Genomics. 1992 Jul;13(3):898-901
pubmed: 1322359
Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13713-8
pubmed: 19666512
Cell. 1997 Aug 22;90(4):661-70
pubmed: 9288746
Acta Neurol Scand. 1992 Oct;86(4):346-53
pubmed: 1333716
J Mol Biol. 2013 Nov 1;425(21):3919-36
pubmed: 23871686
Am J Kidney Dis. 2013 Jan;61(1):161-6
pubmed: 22938848
Amyloid. 2014 Jun;21(2):110-2
pubmed: 24601799
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
J Biol Chem. 1984 Apr 25;259(8):5271-6
pubmed: 6325429
Mayo Clin Proc. 2018 Nov;93(11):1678-1682
pubmed: 30093168
Semin Ophthalmol. 2020 Jan 2;35(1):7-26
pubmed: 31829761
J Clin Pathol. 2000 Feb;53(2):95-9
pubmed: 10767822
Proc Natl Acad Sci U S A. 2019 Jul 9;116(28):13958-13963
pubmed: 31243148
Ann Clin Res. 1969 Dec;1(4):314-24
pubmed: 4313418
Neuroophthalmology. 2017 Jun 19;41(6):330-334
pubmed: 29344073
Brain Behav. 2018 Dec;8(12):e01151
pubmed: 30417985
Invest Ophthalmol Vis Sci. 1994 Sep;35(10):3759-69
pubmed: 8088963
BMC Ophthalmol. 2013 Dec 20;13:82
pubmed: 24359546
Biochim Biophys Acta Mol Basis Dis. 2019 Mar 1;1865(3):648-660
pubmed: 30625383