Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.

scientific article published in March 2018

Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1177/0022034518763152
P932PMC publication ID6055254
P698PubMed publication ID29554435

P50authorMine KoruyucuQ86576653
Jung-Wook KimQ88098150
P2093author name stringY J Kim
J P Simmer
J Kang
S H Lee
Z H Lee
T J Shin
F Seymen
Y Kasimoglu
J C C Hu
H K Hyun
P2860cites workMutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfectaQ24298594
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ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfectaQ24568013
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfectaQ24655763
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfectaQ24658026
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfectaQ24673795
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentitionQ24675846
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defectsQ24678194
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Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis ImperfectaQ28975752
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Epithelial-mesenchymal signalling regulating tooth morphogenesisQ34187035
Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.Q34209196
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Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfectaQ34294655
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfectaQ34342063
Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.Q34584428
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ENAM mutations with incomplete penetranceQ34949590
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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementQ36577378
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Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis ImperfectaQ37342100
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfectaQ37528949
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfectaQ37649121
The Fam50a positively regulates ameloblast differentiation via interacting with Runx2.Q38701526
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.Q39367054
Beta-catenin/LEF1 activated enamelin expression in ameloblast-like cellsQ39685109
Molecular mechanisms of dental enamel formationQ40406102
Properties of phosphorylated 32 kd nonamelogenin proteins isolated from porcine secretory enamel.Q52242228
Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosaQ83705014
P433issue9
P407language of work or nameEnglishQ1860
P304page(s)1064-1069
P577publication date2018-03-19
P1433published inJournal of Dental ResearchQ6295082
P1476titleHypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations
P478volume97

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