Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry (Q37815423)

23 August 2017

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title

Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry (English)

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23 August 2017

main subject

amelogenesis imperfecta

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Blanca Urzúa

1

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23 August 2017

Ana Ortega-Pinto

2

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23 August 2017

Irene Morales-Bozo

3

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23 August 2017

Gonzalo Rojas-Alcayaga

4

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23 August 2017

Víctor Cifuentes

5

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23 August 2017

publication date

3 December 2010

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23 August 2017

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23 August 2017

volume

49

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23 August 2017

issue

1-2

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23 August 2017

page(s)

104-121

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Structural organization of the human NBC1 gene: kNBC1 is transcribed from an alternative promoter in intron 3.

23 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Amelogenesis imperfecta: a classification and catalogue for the 21st century

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Cystic fibrosis transmembrane regulator gene (CFTR) is associated with abnormal enamel formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Cloning and functional expression of a human kidney Na+:HCO3- cotransporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Linkage of amelogenin (Amel) to the distal portion of the mouse X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

21 January 2018

Amelogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Colonic anion secretory defects and metabolic acidosis in mice lacking the NBC1 Na+/HCO3- cotransporter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Amelogenin-deficient mice display an amelogenesis imperfecta phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Candidate gene strategy reveals ENAM mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

DLX3 mutation in a new family and its phenotypic variations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

MMP20 hemopexin domain mutation in amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Physiological implications of DLX homeoproteins in enamel formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

The anion exchanger Ae2 is required for enamel maturation in mouse teeth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Phenotype of ENAM mutations is dosage-dependent

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

MMP20 active-site mutation in hypomaturation amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Role of NBCe1 and AE2 in secretory ameloblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Premature stop codon in MMP20 causing amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

SLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Molecular mechanisms of dental enamel formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Mineral acquisition rates in developing enamel on maxillary and mandibular incisors of rats and mice: implications to extracellular acid loading as apatite crystals mature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Altered pH Regulation During Enamel Development in the Cystic Fibrosis Mouse Incisor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

The molecular etiologies and associated phenotypes of amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Relationship of phenotype and genotype in X-linked amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

Phenotypic variation in FAM83H-associated amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10528-010-9392-6

10.1007/S10528-010-9392-6

21 January 2018

Identifiers

DOI

1 reference

23 August 2017

1 reference