Phenotypic variation in FAM83H-associated amelogenesis imperfecta - Wikidata - awgldk - TriplyDB

Phenotypic variation in FAM83H-associated amelogenesis imperfecta

Phenotypic variation in FAM83H-associated amelogenesis imperfecta

http://www.wikidata.org/entity/Q24643670

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Fam83h is associated with intracellular vesicles and ADHCAI Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta Target gene analyses of 39 amelogenesis imperfecta kindreds Mouse genetic background influences the dental phenotype.The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g Amelogenesis imperfecta: genotype-phenotype studies in 71 families.Genetic studies of craniofacial anomalies: clinical implications and applications Fam83h null mice support a neomorphic mechanism for human ADHCAI Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing Effects of Fam83h overexpression on enamel and dentine formation.Multilevel complex interactions between genetic, epigenetic and environmental factors in the aetiology of anomalies of dental development.MiR-153 Regulates Amelogenesis by Targeting Endocytotic and Endosomal/lysosomal Pathways-Novel Insight into the Origins of Enamel Pathologies.Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.Genetic basis for tooth malformations: from mice to men and back again.Amelogenesis imperfecta: an introduction.Developmental defects of enamel and dentine: challenges for basic science research and clinical management.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.Evolutionary analysis of FAM83H in vertebrates.Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta.Molecular characterization of amelogenesis imperfecta in Chinese patients.Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.FAM83H mutations cause ADHCAI and alter intracellular protein localization.

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Phenotypic variation in FAM83H-associated amelogenesis imperfecta

http://www.wikidata.org/entity/Q24643670

description

2009 nî lūn-bûn

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2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

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2009年論文

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2009年论文

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name

Phenotypic variation in FAM83H-associated amelogenesis imperfecta

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Phenotypic variation in FAM83H-associated amelogenesis imperfecta

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Phenotypic variation in FAM83H-associated amelogenesis imperfecta

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type

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Phenotypic variation in FAM83H-associated amelogenesis imperfecta

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Phenotypic variation in FAM83H-associated amelogenesis imperfecta

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Phenotypic variation in FAM83H-associated amelogenesis imperfecta

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Phenotypic variation in FAM83H-associated amelogenesis imperfecta

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Phenotypic variation in FAM83H-associated amelogenesis imperfecta

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Phenotypic variation in FAM83H-associated amelogenesis imperfecta

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Journal of Dental Research

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Phenotypic variation in FAM83H-associated amelogenesis imperfecta

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P2093

D Simmons

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J T Wright

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K Alexander

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P Crawford

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P S Hart

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S Frazier-Bowers

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T C Hart

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P2860

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia

The molecular etiologies and associated phenotypes of amelogenesis imperfecta

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

Relationship of Phenotype and Genotype in X-Linked Amelogenesis Imperfecta

Enamelin and autosomal-dominant amelogenesis imperfecta.

Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.

Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county.

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