ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
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STIM1 and SLC24A4 Are Critical for Enamel MaturationEnamel ribbons, surface nodules, and octacalcium phosphate in C57BL/6 Amelx(-/-) mice and Amelx(+/-) lyonizationCritical roles for WDR72 in calcium transport and matrix protein removal during enamel maturationRecessive 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 ImperfectaHypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.ENAM mutations with incomplete penetrance.Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfectaInteraction between fibronectin and β1 integrin is essential for tooth developmentNovel ITGB6 mutation in autosomal recessive amelogenesis imperfectaMutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.Deletion of Slc26a1 and Slc26a7 Delays Enamel Mineralization in Mice.Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Novel FAM83H mutations in patients with amelogenesis imperfecta.Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.A novel small deletion in the NHS gene associated with Nance-Horan syndrome.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.Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.Osteogenesis imperfecta and therapeutics.Nance-Horan syndrome-The oral perspective on a rare disease.Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders
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P2860
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
description
2014 nî lūn-bûn
@nan
2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
@ast
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
@en
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
@nl
type
label
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
@ast
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
@en
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
@nl
prefLabel
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
@ast
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
@en
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
@nl
P2093
P2860
P3181
P356
P1476
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
@en
P2093
Amelia S Richardson
Brent P Lin
Bryan M Reid
James P Simmer
Jan C-C Hu
Jung-Wook Kim
Shih-Kai Wang
Susan J Wang
P2860
P304
P3181
P356
10.1093/HMG/DDT611
P407
P50
P577
2013-12-04T00:00:00Z