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Amelogenesis Imperfecta; Genes, Proteins, and Pathways

Frontiers in physiology, 2017-06, Vol.8, p.435-435

2017

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A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

Human molecular genetics, 2014-04, Vol.23 (8), p.2189-2197

2014

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A missense mutation of Leu74Pro of OGR1 found in familial amelogenesis imperfecta actually causes the loss of the pH-sensing mechanism

Biochemical and biophysical research communications, 2020-06, Vol.526 (4), p.920-926

2020

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Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

American journal of human genetics, 2016-10, Vol.99 (4), p.984-990

2016

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Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta

American journal of human genetics, 2013-02, Vol.92 (2), p.307-312

2013

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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

American journal of human genetics, 2015-10, Vol.97 (4), p.535-545

2015

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Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

Orphanet journal of rare diseases, 2014-06, Vol.9 (1), p.84-84

2014

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A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

Journal of allergy and clinical immunology, 2016-03, Vol.137 (3), p.955-957.e8

2016

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Spectrum of PEX1 and PEX6 variants in Heimler syndrome

European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1565-1571

2016

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Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

American journal of human genetics, 2009-11, Vol.85 (5), p.699-705

2009

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Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.132-135

2014

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The changing face of a dental school: a Leeds perspective

British dental journal, 2022-10, Vol.233 (7), p.534-536

Mighell, Alan J

2022

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Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta

American journal of human genetics, 2012-09, Vol.91 (3), p.565-571

2012

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Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

American journal of human genetics, 2009-02, Vol.84 (2), p.266-273

2009

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Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions

BMC biotechnology, 2003-10, Vol.3 (1), p.18-18, Article 18

2003

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Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

American journal of human genetics, 2002-07, Vol.71 (1), p.136-142

2002

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A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

Frontiers in physiology, 2017-05, Vol.8, p.333-333

2017

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An evaluation of referrer factors for 98,671 referrals made to the West Yorkshire oral surgery managed clinical network over a three-year period

British dental journal, 2022-03, p.1-6

2022

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Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

Human molecular genetics, 2014-10, Vol.23 (20), p.5317-5324

2014

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Review of 1.75 million referrals over 34 months identifies the disruptive impact of the SARS-CoV-2 pandemic on oral surgery care in England: a service evaluation

British dental journal, 2023-02

2023

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A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta

Human molecular genetics, 2020-06, Vol.29 (9), p.1417-1425

2020

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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Journal of medical genetics, 2023-11, Vol.61 (4), p.347-355

2023

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Are plasma cell-rich inflammatory conditions of the oral mucosa manifestations of IgG4-related disease?

Journal of clinical pathology, 2015-10, Vol.68 (10), p.802-807

2015

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Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress

Human molecular genetics, 2017-05, Vol.26 (10), p.1863-1876

2017

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Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

Human mutation, 2021-05, Vol.42 (5), p.567-576

2021

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Amelogenesis Imperfecta; Genes, Proteins, and Pathways

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

A missense mutation of Leu74Pro of OGR1 found in familial amelogenesis imperfecta actually causes the loss of the pH-sensing mechanism

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

The changing face of a dental school: a Leeds perspective

Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions

Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

An evaluation of referrer factors for 98,671 referrals made to the West Yorkshire oral surgery managed clinical network over a three-year period

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

Review of 1.75 million referrals over 34 months identifies the disruptive impact of the SARS-CoV-2 pandemic on oral surgery care in England: a service evaluation

A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Are plasma cell-rich inflammatory conditions of the oral mucosa manifestations of IgG4-related disease?

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

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