Enamel defects in Acp4
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
01 10 2022
01 10 2022
Historique:
received:
01
06
2022
accepted:
16
09
2022
entrez:
1
10
2022
pubmed:
2
10
2022
medline:
5
10
2022
Statut:
epublish
Résumé
Human ACP4 (OMIM*606362) encodes a transmembrane protein that belongs to histidine acid phosphatase (ACP) family. Recessive mutations in ACP4 cause non-syndromic hypoplastic amelogenesis imperfecta (AI1J, OMIM#617297). While ACP activity has long been detected in developing teeth, its functions during tooth development and the pathogenesis of ACP4-associated AI remain largely unknown. Here, we characterized 2 AI1J families and identified a novel ACP4 disease-causing mutation: c.774_775del, p.Gly260Aspfs*29. To investigate the role of ACP4 during amelogenesis, we generated and characterized Acp4
Identifiants
pubmed: 36183038
doi: 10.1038/s41598-022-20684-9
pii: 10.1038/s41598-022-20684-9
pmc: PMC9526733
doi:
Substances chimiques
Dental Enamel Proteins
0
Histidine
4QD397987E
ACP4 protein, human
EC 3.1.3.2
Acid Phosphatase
EC 3.1.3.2
Types de publication
Journal Article
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
16477Subventions
Organisme : NIH HHS
ID : DE015846
Pays : United States
Organisme : NIDCR NIH HHS
ID : UH3 DE028849
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE015846
Pays : United States
Organisme : NIH HHS
ID : S10 OD028612
Pays : United States
Organisme : NIDCR NIH HHS
ID : R56 DE015846
Pays : United States
Informations de copyright
© 2022. The Author(s).
Références
Calcif Tissue Int. 1981;33(1):51-5
pubmed: 6257333
Development. 1996 Oct;122(10):3151-62
pubmed: 8898228
Arch Oral Biol. 1972 Mar;17(3):503-9
pubmed: 4503987
J Struct Biol. 2021 Dec;213(4):107805
pubmed: 34715329
Mol Cell Biol. 2012 Feb;32(4):774-82
pubmed: 22158965
Mol Genet Genomic Med. 2015 Jul;3(4):302-19
pubmed: 26247047
Neuroscience. 2004;127(1):91-100
pubmed: 15219672
Crit Rev Oral Biol Med. 1998;9(2):128-61
pubmed: 9603233
Mol Genet Genomic Med. 2019 Sep;7(9):e929
pubmed: 31402633
J Struct Biol. 1999 Jun 30;126(3):270-99
pubmed: 10441532
J Dent Res. 2007 Feb;86(2):153-7
pubmed: 17251515
Anat Rec. 1965 Sep;153(1):55-70
pubmed: 4161088
Development. 2001 Dec;128(23):4899-910
pubmed: 11731469
Eur J Oral Sci. 2011 Dec;119 Suppl 1:217-25
pubmed: 22243249
PLoS One. 2013 Sep 10;8(9):e73072
pubmed: 24039861
Front Physiol. 2017 Jul 31;8:529
pubmed: 28824442
Mol Genet Genomic Med. 2019 Jun;7(6):e724
pubmed: 31060110
J Cell Biol. 2020 Mar 2;219(3):
pubmed: 32045479
Mol Genet Genomic Med. 2015 Sep 21;4(1):46-67
pubmed: 26788537
Annu Rev Genet. 2005;39:309-38
pubmed: 16285863
Mol Genet Genomic Med. 2016 Oct 05;4(6):641-661
pubmed: 27896287
Acta Anat (Basel). 1951;12(3):334-40
pubmed: 14856526
Int J Mol Sci. 2016 Dec 28;18(1):
pubmed: 28036022
PeerJ. 2021 Jan 22;9:e10219
pubmed: 33552707
Mol Genet Genomic Med. 2016 Oct 16;4(6):662-683
pubmed: 27896288
J Ultrastruct Res. 1962 Apr;6:229-48
pubmed: 14493687
Sci Rep. 2021 May 19;11(1):10570
pubmed: 34012043
Eur J Oral Sci. 2011 Dec;119 Suppl 1:125-35
pubmed: 22243238
Neuron. 2008 Oct 9;60(1):111-22
pubmed: 18940592
Mol Genet Genomic Med. 2015 Dec 20;4(2):178-96
pubmed: 27066511
Nucleic Acids Res. 2017 Jan 4;45(D1):D840-D845
pubmed: 27899611
Clin Orthop Relat Res. 1971;78:151-67
pubmed: 5110923
Am J Anat. 1984 Oct;171(2):163-89
pubmed: 6496374
Prostate. 2000 Feb 15;42(3):211-8
pubmed: 10639192
Cancer Res. 2007 Jul 15;67(14):6549-54
pubmed: 17638863
Science. 2017 May 26;356(6340):
pubmed: 28495876
EMBO J. 1990 Nov;9(11):3497-506
pubmed: 2209556
Am J Hum Genet. 2016 Nov 3;99(5):1199-1205
pubmed: 27843125
Connect Tissue Res. 1989;22(1-4):147-56
pubmed: 2598666
Mol Phylogenet Evol. 2022 Jun;171:107463
pubmed: 35358696
Eur J Hum Genet. 2017 Aug;25(8):1015-1019
pubmed: 28513613
Int J Oral Sci. 2012 Sep;4(3):129-34
pubmed: 22996272
Scand J Dent Res. 1974;82(5):381-95
pubmed: 4528405
Anat Rec. 1968 Jun;161(2):211-29
pubmed: 4876881
Acta Anat (Basel). 1984;118(1):23-33
pubmed: 6702405
J Dent Res. 2022 Jan;101(1):37-45
pubmed: 34036831
Genomics. 2001 Jun 15;74(3):385-95
pubmed: 11414767
Nat Genet. 2013 Jun;45(6):580-5
pubmed: 23715323
J Dent Res. 1971 Nov-Dec;50(6):1502-3
pubmed: 5289064
ACS Infect Dis. 2022 May 13;8(5):942-957
pubmed: 35357134
Adv Dent Res. 1987 Dec;1(2):148-61
pubmed: 3504166
Clin Genet. 2019 Mar;95(3):375-383
pubmed: 30506946
Methods Mol Biol. 2013;1053:155-66
pubmed: 23860654
Anat Rec. 1992 Jul;233(3):335-49
pubmed: 1609967
Annu Rev Biochem. 2003;72:395-447
pubmed: 12651740
Proc Natl Acad Sci U S A. 2022 Feb 1;119(5):
pubmed: 35086928
Nucleic Acids Res. 2021 Jan 8;49(D1):D892-D898
pubmed: 33211864
Hum Genet. 2019 May;138(5):525-533
pubmed: 30877375
PLoS One. 2014 Mar 06;9(3):e89303
pubmed: 24603688
J Bone Miner Res. 2003 Oct;18(10):1912-5
pubmed: 14584906
J Histochem Cytochem. 1985 Nov;33(11):1153-60
pubmed: 4056379
Arch Oral Biol. 1982;27(2):129-32
pubmed: 6952825
Am J Anat. 1991 Mar;190(3):279-90
pubmed: 1646565
Arch Oral Biol. 1989;34(8):599-608
pubmed: 2597051
Tissue Cell. 1973;5(3):501-24
pubmed: 4744683
Arch Oral Biol. 1983;28(10):895-905
pubmed: 6580846
Differentiation. 1986;30(3):237-43
pubmed: 3699311
Sci Rep. 2021 Jan 13;11(1):1132
pubmed: 33441959
Scand J Dent Res. 1982 Aug;90(4):263-70
pubmed: 6957966
Anat Rec. 1989 Jun;224(2):277-91
pubmed: 2774207
Calcif Tissue Int. 1994 Apr;54(4):312-9
pubmed: 8062146
Proteomics. 2010 Nov;10(22):4053-76
pubmed: 20957757
Arch Oral Biol. 1973 Mar;18(3):445-8
pubmed: 4515973
Histochemie. 1973;35(1):39-50
pubmed: 4701517
Nat Rev Genet. 2020 Aug;21(8):448
pubmed: 32488197
J Dent Res. 2019 May;98(5):541-548
pubmed: 30779877
Nat Protoc. 2009;4(7):1073-81
pubmed: 19561590
Arch Oral Biol. 1985;30(1):13-21
pubmed: 3888156