LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
about
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfectaRecessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis ImperfectaAlteration of conserved alternative splicing in AMELX causes enamel defects.Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis ImperfectaMouse genetic background influences the dental phenotype.Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.ENAM mutations with incomplete penetrance.Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity.Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfectaNovel ITGB6 mutation in autosomal recessive amelogenesis imperfectaGenome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.Deletion of Slc26a1 and Slc26a7 Delays Enamel Mineralization in Mice.DENTAL ENAMEL FORMATION AND IMPLICATIONS FOR ORAL HEALTH AND DISEASE.Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Abrogation of epithelial BMP2 and BMP4 causes Amelogenesis Imperfecta by reducing MMP20 and KLK4 expression.Nephronectin plays critical roles in Sox2 expression and proliferation in dental epithelial stem cells via EGF-like repeat domains.Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.DLX3-Dependent Regulation of Ion Transporters and Carbonic Anhydrases is Crucial for Enamel Mineralization.A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region.Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders
P2860
Q24568013-D6FC2BA1-7777-4E25-A94A-7937436F5844Q28975752-03455DC5-D247-4DC5-B3CB-1FC161711BD3Q30615382-33E4F410-0990-4A55-A8A2-8BCB8C06387CQ33580860-01D1939C-B482-4ED1-BD39-C4396A391209Q33837910-6010F18E-5B4E-47AD-A965-02FBE5FE0205Q34450495-6F2D658C-D220-41D4-889E-0464017CCD4DQ34949590-06EF2733-1AA0-4861-B922-4E4A9F0C9462Q34996787-D9633218-63D6-4731-8D81-DE1A145860B6Q35175229-8E5C1D03-1F45-4DC9-B23A-FF1EB2C931ADQ35633185-3A651BEA-206B-404E-A818-24E309E9F6B3Q36851447-A8AE3752-35DA-49F5-9384-7E784A0F42D4Q37342100-1BD677C3-234C-439A-AF85-2CBCD26B6F3CQ37649121-382883F4-7A74-4B6B-8C63-60D7ABDB3DA6Q38755348-684632C8-6FBE-455C-8F3F-8C8FE23FFBA2Q38806480-3056CAAB-0E6A-426B-98B6-6B531BAB8C8DQ39427065-7EAB7E1D-C896-42DA-AD86-ADE542DE6D4CQ41017131-D8864D08-C2C0-4073-A0E2-11310C19870FQ41973230-8CD653DD-302D-43E1-A57C-6CBC85026A68Q49359010-3487FC4D-5F5D-4743-9447-DD5E7628E5F9Q50483182-8252F349-F4AE-440F-8395-1227E48E4F76Q50509775-7FB59C8E-2EEF-4E41-ACB9-5371D3C858AAQ58769725-37FF445A-6423-4F23-9C39-9557F319DC95
P2860
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
@ast
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
@en
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
@nl
type
label
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
@ast
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
@en
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
@nl
prefLabel
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
@ast
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
@en
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
@nl
P2093
P2860
P3181
P356
P1476
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
@en
P2093
J P Simmer
M Yildirim
P2860
P304
P3181
P356
10.1177/0022034513502054
P407
P577
2013-10-01T00:00:00Z