Published in Am J Hum Genet on October 22, 2009
Target gene analyses of 39 amelogenesis imperfecta kindreds. Eur J Oral Sci (2011) 1.97
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet (2011) 1.84
Regulation of dental enamel shape and hardness. J Dent Res (2010) 1.71
Amelogenesis imperfecta: genotype-phenotype studies in 71 families. Cells Tissues Organs (2011) 1.45
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. Am J Hum Genet (2013) 1.33
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. Eur J Hum Genet (2013) 1.28
Identification of novel candidate genes involved in mineralization of dental enamel by genome-wide transcript profiling. J Cell Physiol (2012) 1.24
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. Am J Hum Genet (2012) 1.24
Protein-mediated enamel mineralization. Front Biosci (Landmark Ed) (2012) 1.16
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Hum Mol Genet (2014) 1.11
Dental enamel development: proteinases and their enamel matrix substrates. ISRN Dent (2013) 1.10
Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing. J Dent Res (2013) 1.04
Genes expressed in dental enamel development are associated with molar-incisor hypomineralization. Arch Oral Biol (2013) 1.02
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. Hum Mol Genet (2013) 1.01
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. Hum Mol Genet (2013) 1.01
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet (2015) 0.93
Novel WDR72 mutation and cytoplasmic localization. J Dent Res (2010) 0.91
Effects of Fam83h overexpression on enamel and dentine formation. Arch Oral Biol (2013) 0.90
Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. PLoS One (2012) 0.87
The Amelogenin Proteins and Enamel Development in Humans and Mice. J Oral Biosci (2011) 0.87
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. Am J Hum Genet (2016) 0.86
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. Am J Hum Genet (2016) 0.85
Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation. Mol Genet Genomic Med (2015) 0.84
Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth. Cells Tissues Organs (2010) 0.84
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Hum Mol Genet (2016) 0.84
Amelogenesis Imperfecta; Genes, Proteins, and Pathways. Front Physiol (2017) 0.82
Alteration of conserved alternative splicing in AMELX causes enamel defects. J Dent Res (2014) 0.81
Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation. Oral Surg Oral Med Oral Pathol Oral Radiol (2014) 0.81
Maturation stage enamel malformations in Amtn and Klk4 null mice. Matrix Biol (2015) 0.81
Localization of transforming growth factor beta receptor II interacting protein-1 in bone and teeth: implications in matrix mineralization. J Histochem Cytochem (2012) 0.80
Recommendations for Accurate Resolution of Gene and Isoform Allele-Specific Expression in RNA-Seq Data. PLoS One (2015) 0.80
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report. BMC Oral Health (2015) 0.80
Stress response pathways in ameloblasts: implications for amelogenesis and dental fluorosis. Cells (2012) 0.80
ENAM mutations with incomplete penetrance. J Dent Res (2014) 0.79
Mouse genetic background influences the dental phenotype. Cells Tissues Organs (2014) 0.78
The use of mouse models to investigate shear bond strength in amelogenesis imperfecta. J Dent Res (2011) 0.78
Dpysl4 is involved in tooth germ morphogenesis through growth regulation, polarization and differentiation of dental epithelial cells. Int J Biol Sci (2013) 0.78
WDR72 models of structure and function: a stage-specific regulator of enamel mineralization. Matrix Biol (2014) 0.78
A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature. Mol Syndromol (2012) 0.77
Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta. Genet Mol Biol (2012) 0.77
Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta. Orphanet J Rare Dis (2012) 0.76
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. Hum Mol Genet (2017) 0.75
Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. Front Physiol (2017) 0.75
Evolutionary analysis of FAM83H in vertebrates. PLoS One (2017) 0.75
Deletion of Slc26a1 and Slc26a7 Delays Enamel Mineralization in Mice. Front Physiol (2017) 0.75
Cellular and chemical events during enamel maturation. Crit Rev Oral Biol Med (1998) 4.46
Repetitive segmental structure of the transducin beta subunit: homology with the CDC4 gene and identification of related mRNAs. Proc Natl Acad Sci U S A (1986) 3.59
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol (1988) 3.52
Epithelial-mesenchymal signalling regulating tooth morphogenesis. J Cell Sci (2003) 3.03
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet (2005) 2.99
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet (2004) 2.93
Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem (2002) 2.59
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. Am J Hum Genet (2008) 2.38
Enamel formation and amelogenesis imperfecta. Cells Tissues Organs (2007) 2.32
UAF1 is a subunit of multiple deubiquitinating enzyme complexes. J Biol Chem (2008) 2.17
MMP20 active-site mutation in hypomaturation amelogenesis imperfecta. J Dent Res (2005) 2.12
Amelogenesis imperfecta: a classification and catalogue for the 21st century. Oral Dis (2003) 2.06
Structural basis of histone H4 recognition by p55. Genes Dev (2008) 1.95
ENAM mutations in autosomal-dominant amelogenesis imperfecta. J Dent Res (2005) 1.83
Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. Eur J Oral Sci (2006) 1.77
Hypomaturation enamel defects in Klk4 knockout/LacZ knockin mice. J Biol Chem (2009) 1.77
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet (2009) 1.58
Genes and related proteins involved in amelogenesis imperfecta. J Dent Res (2005) 1.53
Decreased mineral content in MMP-20 null mouse enamel is prominent during the maturation stage. J Dent Res (2004) 1.52
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. Eur J Med Genet (2008) 1.52
A mouse model expressing a truncated form of ameloblastin exhibits dental and junctional epithelium defects. Matrix Biol (2009) 1.50
The anion exchanger Ae2 is required for enamel maturation in mouse teeth. Matrix Biol (2007) 1.43
Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4. Cells Tissues Organs (2008) 1.43
Cloning of rat amelotin and localization of the protein to the basal lamina of maturation stage ameloblasts and junctional epithelium. Biochem J (2006) 1.43
Novel sequences propel familiar folds. Structure (2002) 1.37
Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. Hum Mutat (2008) 1.28
Diversity of WD-repeat proteins. Subcell Biochem (2008) 1.28
Morphological classification of rat incisor ameloblasts. Anat Rec (1974) 1.26
Premature stop codon in MMP20 causing amelogenesis imperfecta. J Dent Res (2008) 1.26
Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2004) 1.18
Altered pH regulation during enamel development in the cystic fibrosis mouse incisor. J Dent Res (2003) 1.13
Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta. Arch Oral Biol (2005) 1.11
Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta. Clin Genet (2009) 1.11
Molecular genetics of ameloblast cell lineage. J Exp Zool B Mol Dev Evol (2009) 1.08
Type XVII collagen is a key player in tooth enamel formation. Am J Pathol (2008) 1.07
H-Ras is degraded by Wnt/beta-catenin signaling via beta-TrCP-mediated polyubiquitylation. J Cell Sci (2009) 1.02
Friends and foes in synaptic transmission: the role of tomosyn in vesicle priming. Trends Neurosci (2009) 1.02
Human amelogenesis. I: High resolution electron microscopy study of ribbon-like crystals. Calcif Tissue Int (1992) 1.01
Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta. Arch Oral Biol (2007) 1.01
Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation. Cells Tissues Organs (2009) 0.98
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. Eur J Med Genet (2008) 0.98
Rabconnectin-3, a novel protein that binds both GDP/GTP exchange protein and GTPase-activating protein for Rab3 small G protein family. J Biol Chem (2002) 0.98
Molecular mechanisms of cytodifferentiation in mammalian tooth development. Connect Tissue Res (2006) 0.98
Hereditary aspects and classification of hereditary amelogenesis imperfecta. Community Dent Oral Epidemiol (1986) 0.97
Candidate gene strategy reveals ENAM mutations. J Dent Res (2009) 0.97
A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter. Genes Cells (2003) 0.96
Transforming growth factor-beta1 expression is up-regulated in maturation-stage enamel organ and may induce ameloblast apoptosis. Eur J Oral Sci (2009) 0.94
Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta. J Dent Res (2008) 0.94
Determination of protein regions responsible for interactions of amelogenin with CD63 and LAMP1. Biochem J (2007) 0.92
DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. Am J Med Genet A (2008) 0.92
Expression patterns of the Fam83h gene during murine tooth development. Arch Oral Biol (2009) 0.90
Enamel mineralization in the absence of maturation stage ameloblasts. Arch Oral Biol (2009) 0.89
Rab3a-mediated vesicle recruitment regulates short-term plasticity at the mouse diaphragm synapse. Mol Cell Neurosci (2009) 0.86
A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). Am J Med Genet A (2009) 0.86
Purification and properties of rabconnectin-3. Methods Enzymol (2005) 0.85
Enamel matrix protein turnover during amelogenesis: basic biochemical properties of short-lived sulfated enamel proteins. Calcif Tissue Int (1995) 0.85
Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta. Am J Med Genet A (2009) 0.82
Electrostatic and functional analysis of the seven-bladed WD beta-propellers. Evol Bioinform Online (2008) 0.79
Assignment of WDR7 (alias TRAG, TGF-beta resistance associated gene) to orthologous regions of human chromosome 18q21.1-->q22 and mouse chromosome 18D.1-E.3 by fluorescence in situ hybridization. Cytogenet Cell Genet (2000) 0.77
An SCN9A channelopathy causes congenital inability to experience pain. Nature (2006) 7.01
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet (2005) 5.48
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet (2006) 3.52
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Age-associated decline in T cell repertoire diversity leads to holes in the repertoire and impaired immunity to influenza virus. J Exp Med (2008) 3.15
Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet (2002) 3.13
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet (2008) 2.88
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet (2004) 2.70
Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet (2009) 2.35
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.34
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet (2006) 2.20
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11
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 Biotechnol (2003) 2.05
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet (2012) 1.96
Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89
Partnerships for better mental health worldwide: WPA recommendations on best practices in working with service users and family carers. World Psychiatry (2011) 1.87
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet (2009) 1.71
Umbilical vein oxytocin for the treatment of retained placenta (Release Study): a double-blind, randomised controlled trial. Lancet (2009) 1.67
Knowledge of adverse drug reaction reporting in first year postgraduate doctors in a medical college. Ther Clin Risk Manag (2012) 1.65
Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet (2004) 1.62
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet (2009) 1.58
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet (2013) 1.53
Collision events between RNA polymerases in convergent transcription studied by atomic force microscopy. Nucleic Acids Res (2006) 1.40
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet (2010) 1.38
IL-23-dependent IL-17 drives Th1-cell responses following Mycobacterium bovis BCG vaccination. Eur J Immunol (2011) 1.33
CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration. Br J Ophthalmol (2011) 1.33
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. Am J Hum Genet (2013) 1.33
prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast. Nat Struct Mol Biol (2007) 1.32
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31
Evaluation of phenolic contents and antioxidant activity of various solvent extracts of Sonchus asper (L.) Hill. Chem Cent J (2012) 1.28
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. Am J Hum Genet (2012) 1.24
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Invest Ophthalmol Vis Sci (2009) 1.21
Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. Eur J Hum Genet (2003) 1.21
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur J Hum Genet (2002) 1.20
Phase I and pharmacologic trial of cytosine arabinoside with the selective checkpoint 1 inhibitor Sch 900776 in refractory acute leukemias. Clin Cancer Res (2012) 1.20
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol (2007) 1.19
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci (2004) 1.19
Genetic and epigenetic analysis of recurrent hydatidiform mole. Hum Mutat (2009) 1.19
Assessment of flavonoids contents and in vitro antioxidant activity of Launaea procumbens. Chem Cent J (2012) 1.18
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am J Hum Genet (2009) 1.16
The deubiquitinase A20 mediates feedback inhibition of interleukin-17 receptor signaling. Sci Signal (2013) 1.16
PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. Exp Cell Res (2004) 1.15
Antigen-specific CD8+ T cell clonal expansions develop from memory T cell pools established by acute respiratory virus infections. J Immunol (2007) 1.10
The cell adhesion molecule nectin-1 is critical for normal enamel formation in mice. Hum Mol Genet (2008) 1.10
Developing explanatory models of health inequalities in childhood dental caries. Community Dent Health (2004) 1.10
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A (2013) 1.08
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. Am J Hum Genet (2011) 1.08
Malachite green mediates homodimerization of antibody VL domains to form a fluorescent ternary complex with singular symmetric interfaces. J Mol Biol (2013) 1.08
A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. Hum Mol Genet (2010) 1.07
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci (2012) 1.07
Long bone defect models for tissue engineering applications: criteria for choice. Tissue Eng Part B Rev (2010) 1.06
Evaluation of pediatric sensorineural hearing loss with magnetic resonance imaging. Arch Otolaryngol Head Neck Surg (2008) 1.06
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Hum Mutat (2012) 1.06
Regional and ethnic distribution of beta thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis. J Coll Physicians Surg Pak (2007) 1.05
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. Arch Ophthalmol (2010) 1.04
4-[(E)-Phenyl-imino-meth-yl]benzonitrile. Acta Crystallogr Sect E Struct Rep Online (2008) 1.03
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. Mol Vis (2010) 1.03
2D mapping of texture and lattice parameters of dental enamel. Biomaterials (2007) 1.03
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nat Genet (2011) 1.02
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. Hum Mol Genet (2013) 1.01