Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification
about
Novel FAM20A mutations in hypoplastic amelogenesis imperfectaNovel WDR72 mutation and cytoplasmic localizationMMP20 hemopexin domain mutation in amelogenesis imperfectaFam83h is associated with intracellular vesicles and ADHCAIPhenotypic variation in FAM83H-associated amelogenesis imperfectaMutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfectaFAM83 proteins: Fostering new interactions to drive oncogenic signaling and therapeutic resistanceNovel genetic linkage of rat Sp6 mutation to Amelogenesis imperfectaTarget gene analyses of 39 amelogenesis imperfecta kindredsFAM83H is involved in the progression of hepatocellular carcinoma and is regulated by MYC.Mouse genetic background influences the dental phenotype.Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.The Amelogenin Proteins and Enamel Development in Humans and Mice.Fam83h null mice support a neomorphic mechanism for human ADHCAIA targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementEffects of Fam83h overexpression on enamel and dentine formation.Molecular genetics of ameloblast cell lineage.Candidate gene strategy reveals ENAM mutations.Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.Amelogenesis imperfecta: an introduction.Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Novel FAM83H mutations in patients with amelogenesis imperfecta.FAM83 family oncogenes are broadly involved in human cancers: an integrative multi-omics approachMissense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta.Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.Molecular characterization of amelogenesis imperfecta in Chinese patients.FAM83H mutations cause ADHCAI and alter intracellular protein localization.The FAM83 family of proteins: from pseudo-PLDs to anchors for CK1 isoforms.Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.
P2860
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P2860
Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification
description
2008 nî lūn-bûn
@nan
2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mutational spectrum of FAM83H: ...... for tooth enamel calcification
@ast
Mutational spectrum of FAM83H: ...... for tooth enamel calcification
@en
Mutational spectrum of FAM83H: ...... for tooth enamel calcification
@nl
type
label
Mutational spectrum of FAM83H: ...... for tooth enamel calcification
@ast
Mutational spectrum of FAM83H: ...... for tooth enamel calcification
@en
Mutational spectrum of FAM83H: ...... for tooth enamel calcification
@nl
prefLabel
Mutational spectrum of FAM83H: ...... for tooth enamel calcification
@ast
Mutational spectrum of FAM83H: ...... for tooth enamel calcification
@en
Mutational spectrum of FAM83H: ...... for tooth enamel calcification
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutational spectrum of FAM83H: ...... for tooth enamel calcification
@en
P2093
Brent P-J Lin
James P Simmer
Jan C-C Hu
Jung-Wook Kim
Kyung-Eun Lee
Sook-Kyung Lee
P2860
P3181
P356
10.1002/HUMU.20789
P407
P577
2008-08-01T00:00:00Z