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Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

http://www.wikidata.org/entity/Q36623188

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Involvement of Kallikrein-Related Peptidases in Normal and Pathologic Processes Evolution of Klk4 and enamel maturation in eutherians Kallikrein-related peptidase-4 (KLK4): role in enamel formation and revelations from ablated mice Dental enamel development: proteinases and their enamel matrix substrates LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities.Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta Fam83h null mice support a neomorphic mechanism for human ADHCAI Kallikreins - The melting pot of activity and function Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns Maturation stage enamel malformations in Amtn and Klk4 null mice MMP20 modulates cadherin expression in ameloblasts as enamel develops.Matrix metalloproteinase-20 over-expression is detrimental to enamel development: a Mus musculus model Unleashing the therapeutic potential of human kallikrein-related serine proteases.MMP20, KLK4, and MMP20/KLK4 double null mice define roles for matrix proteases during dental enamel formation.Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta.Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta.Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.Adaptive Evolution Favoring KLK4 Downregulation in East Asians.

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Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

http://www.wikidata.org/entity/Q36623188

description

2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

@zh-hk

2013年論文

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2013年論文

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2013年论文

@wuu

2013年论文

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2013年论文

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name

Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

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Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

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type

label

Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

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Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

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Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

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Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

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Journal of Dental Research

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Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

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B M Reid

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F Seymen

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J C-C Hu

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J P Simmer

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M Bayram

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M Yildirim

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N M R P Estrella

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S Pal

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Y Hu

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P2860

FAM20A mutations can cause enamel-renal syndrome (ERS).

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

Fam83h is associated with intracellular vesicles and ADHCAI

Phenotypic variation in FAM83H-associated amelogenesis imperfecta

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

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266-271

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scholarly article

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10.1177/0022034513475626

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3

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92

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John D Bartlett

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2013-01-25T00:00:00Z

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235377205

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