(Q38134658)

29 August 2017

Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition (English)

1 reference

29 August 2017

Martyn T Cobourne

1

0 references

Paul T Sharpe

object named as

Paul T Sharpe

series ordinal

2

0 references

publication date

25 May 2012

1 reference

Wiley interdisciplinary reviews. Developmental biology

29 August 2017

1 reference

29 August 2017

2

1 reference

29 August 2017

2

1 reference

29 August 2017

183-212

1 reference

Reiterative signaling and patterning during mammalian tooth morphogenesis

29 August 2017

1 reference

The cutting-edge of mammalian development; how the embryo makes teeth

21 January 2018

1 reference

Continuous tooth generation in mouse is induced by activated epithelial Wnt/beta-catenin signaling

21 January 2018

1 reference

Nonindependence of mammalian dental characters

21 January 2018

1 reference

Wnt/beta-catenin signaling directs multiple stages of tooth morphogenesis

21 January 2018

1 reference

Stimulation of ectodermal organ development by Ectodysplasin-A1.

21 January 2018

1 reference

The activation level of the TNF family receptor, Edar, determines cusp number and tooth number during tooth development.

21 January 2018

1 reference

Inhibition of Wnt signaling by Wise (Sostdc1) and negative feedback from Shh controls tooth number and patterning.

21 January 2018

1 reference

Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood.

21 January 2018

1 reference

WNT signals are required for the initiation of hair follicle development

21 January 2018

1 reference

Cusp patterning defect in Tabby mouse teeth and its partial rescue by FGF.

21 January 2018

1 reference

Involvement of a novel Tnf receptor homologue in hair follicle induction.

21 January 2018

1 reference

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

21 January 2018

1 reference

Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer

21 January 2018

1 reference

Identification and characterization of the familial adenomatous polyposis coli gene

21 January 2018

1 reference

A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1.

21 January 2018

1 reference

Recessively inherited lower incisor hypodontia

21 January 2018

1 reference

A unifying aetiological explanation for anomalies of human tooth number and size

21 January 2018

1 reference

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

21 January 2018

1 reference

Mutation of PAX9 is associated with oligodontia

21 January 2018

1 reference

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

21 January 2018

1 reference

A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.

21 January 2018

1 reference

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

21 January 2018

1 reference

A nonsense mutation in MSX1 causes Witkop syndrome

21 January 2018

1 reference

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes

21 January 2018

1 reference

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

21 January 2018

1 reference

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

21 January 2018

1 reference

Novel MSX1 frameshift causes autosomal-dominant oligodontia

21 January 2018

1 reference

Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis

21 January 2018

1 reference

A novel mutation in human PAX9 causes molar oligodontia

21 January 2018

1 reference

Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis

21 January 2018

1 reference

Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia

21 January 2018

1 reference

Identification of a nonsense mutation in the PAX9 gene in molar oligodontia

21 January 2018

1 reference

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

21 January 2018

1 reference

Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1

21 January 2018

1 reference

Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.

21 January 2018

1 reference

Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development

21 January 2018

1 reference

Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis

21 January 2018

1 reference

Functional consequences of interactions between Pax9 and Msx1 genes in normal and abnormal tooth development.

21 January 2018

1 reference

Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.

21 January 2018

1 reference

The role of Axin2 in calvarial morphogenesis and craniosynostosis

21 January 2018

1 reference

Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway

21 January 2018

1 reference

Initiation of Wnt signaling: control of Wnt coreceptor Lrp6 phosphorylation/activation via frizzled, dishevelled and axin functions.

21 January 2018

1 reference

Tissue-specific roles of Axin2 in the inhibition and activation of Wnt signaling in the mouse embryo

21 January 2018

1 reference

Ectodermal dysplasias: clinical and molecular review.

21 January 2018

1 reference

Molecular aspects of hypohidrotic ectodermal dysplasia.

21 January 2018

1 reference

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

21 January 2018

1 reference

Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice

21 January 2018

1 reference

Distinct impacts of Eda and Edar loss of function on the mouse dentition

21 January 2018

1 reference

TNF signalling in tooth development

21 January 2018

1 reference

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

21 January 2018

1 reference

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

21 January 2018

1 reference

TRAF6-deficient mice display hypohidrotic ectodermal dysplasia

21 January 2018

1 reference

Traf6 is essential for murine tooth cusp morphogenesis

21 January 2018

1 reference

A dual role for Ikk alpha in tooth development

21 January 2018

1 reference

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

Antagonistic regulation of Dlx2 expression by PITX2 and Msx2: implications for tooth development

21 January 2018

1 reference

Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21

21 January 2018

1 reference

Revisiting the supernumerary: the epidemiological and molecular basis of extra teeth

21 January 2018

1 reference

Supernumerary teeth: review of the literature and a survey of 152 cases

21 January 2018

1 reference

Non-syndromic multiple supernumerary teeth transmitted as an autosomal dominant trait

21 January 2018

1 reference

Molecular genetics of supernumerary tooth formation

21 January 2018

1 reference

Making up the numbers: The molecular control of mammalian dental formula

21 January 2018

1 reference

Phylogenetic memory of developing mammalian dentition.

21 January 2018

1 reference

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

21 January 2018

1 reference

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 January 2018

1 reference

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

21 January 2018

1 reference

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

21 January 2018

1 reference

Lrp4 modulates extracellular integration of cell signaling pathways in development

21 January 2018

1 reference

Interactions between Shh, Sostdc1 and Wnt signaling and a new feedback loop for spatial patterning of the teeth

21 January 2018

1 reference

Sprouty genes control diastema tooth development via bidirectional antagonism of epithelial-mesenchymal FGF signaling

21 January 2018

1 reference

Regulation of mammalian tooth cusp patterning by ectodin

21 January 2018

1 reference

Primary cilia regulate Shh activity in the control of molar tooth number

21 January 2018

1 reference

Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts

21 January 2018

1 reference

Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

21 January 2018

1 reference

Phenotypic changes in dentition of Runx2 homozygote-null mutant mice

21 January 2018

1 reference

Runx2 mediates FGF signaling from epithelium to mesenchyme during tooth morphogenesis

21 January 2018

1 reference

Runx2 (Cbfa1) inhibits Shh signaling in the lower but not upper molars of mouse embryos and prevents the budding of putative successional teeth

21 January 2018

1 reference

Identification of deletion mutations and three new genes at the familial polyposis locus

21 January 2018

1 reference

Identification of a Gene Located at Chromosome 5q21 that Is Mutated in Colorectal Cancers

21 January 2018

1 reference

Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients

21 January 2018

1 reference

The many ways of Wnt in cancer

21 January 2018

1 reference

Adenomatous polyposis coli (APC) is required for normal development of skin and thymus

21 January 2018

1 reference

Homeobox genes and orofacial development.

21 January 2018

1 reference

Tooth and jaw: molecular mechanisms of patterning in the first branchial arch

21 January 2018

1 reference

Neural crest and tooth morphogenesis.

21 January 2018

1 reference

Transformation of tooth type induced by inhibition of BMP signaling

21 January 2018

1 reference

Splitting placodes: effects of bone morphogenetic protein and Activin on the patterning and identity of mouse incisors

21 January 2018

1 reference

Patterning the size and number of tooth and its cusps

21 January 2018

1 reference

Wnt5a plays a crucial role in determining tooth size during murine tooth development

21 January 2018

1 reference

Inhibition of Wnt signaling by exogenous Mfrzb1 protein affects molar tooth size

21 January 2018

1 reference

Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia

21 January 2018

1 reference

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

21 January 2018

1 reference

Shh signaling within the dental epithelium is necessary for cell proliferation, growth and polarization

21 January 2018

1 reference

A common variation in EDAR is a genetic determinant of shovel-shaped incisors

21 January 2018

1 reference

Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome

21 January 2018

1 reference

Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.

21 January 2018

1 reference

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

21 January 2018

1 reference

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

21 January 2018

1 reference

Lobodontia--a rare inherited dental anomaly. Report of an affected family

21 January 2018

1 reference

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

21 January 2018

1 reference

Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform

21 January 2018

1 reference

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

21 January 2018

1 reference

Dental characteristics in Williams syndrome: a clinical and radiographic evaluation.

21 January 2018

1 reference

Short root anomaly associated with Rothmund-Thomson syndrome

21 January 2018

1 reference

Root morphology of mandibular premolars in 40 patients with Turner syndrome.

21 January 2018

1 reference

Oral and clinical characteristics of a group of patients with Turner syndrome.

21 January 2018

1 reference

Root length, crown height, and root morphology in Turner syndrome

21 January 2018

1 reference

Root morphology of mandibular premolars in human 45,X females

21 January 2018

1 reference

Root lengths in the permanent teeth of Klinefelter (47,XXY) men.

21 January 2018

1 reference

Modulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentition

21 January 2018

1 reference

The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders

21 January 2018

1 reference

21 January 2018

Amelogenesis imperfecta

1 reference

The molecular etiologies and associated phenotypes of amelogenesis imperfecta

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

1 reference

Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

21 January 2018

1 reference

Hereditary dentin defects

21 January 2018

1 reference

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

21 January 2018

1 reference

Amelogenesis imperfecta: genotype-phenotype studies in 71 families

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

21 January 2018

1 reference

DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

21 January 2018

1 reference

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

21 January 2018

1 reference

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

21 January 2018

1 reference

Cloning and characterization of the mouse and human enamelin genes

21 January 2018

1 reference

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

21 January 2018

1 reference

Phenotype of ENAM mutations is dosage-dependent

21 January 2018

1 reference

FAM83H mutations cause ADHCAI and alter intracellular protein localization.

21 January 2018

1 reference

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

21 January 2018

1 reference

Reassessing the Dlx code: the genetic regulation of branchial arch skeletal pattern and development

21 January 2018

1 reference

Placental failure in mice lacking the homeobox gene Dlx3

21 January 2018

1 reference

Expression pattern of Dlx3 during cell differentiation in mineralized tissues.

21 January 2018

1 reference

Physiological implications of DLX homeoproteins in enamel formation.

21 January 2018

1 reference

Dlx3 transcriptional regulation of osteoblast differentiation: temporal recruitment of Msx2, Dlx3, and Dlx5 homeodomain proteins to chromatin of the osteocalcin gene.

21 January 2018

1 reference

BMP2 commitment to the osteogenic lineage involves activation of Runx2 by DLX3 and a homeodomain transcriptional network.

21 January 2018

1 reference

Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias.

21 January 2018

1 reference

A dominant mutation etiologic for human tricho-dento-osseous syndrome impairs the ability of DLX3 to downregulate ΔNp63α.

21 January 2018

1 reference

Amelogenin-deficient mice display an amelogenesis imperfecta phenotype

21 January 2018

1 reference

A human X-Y homologous region encodes "amelogenin"

21 January 2018

1 reference

Relationship of phenotype and genotype in X-linked amelogenesis imperfecta

21 January 2018

1 reference

A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta

21 January 2018

1 reference

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

21 January 2018

1 reference

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

21 January 2018

1 reference

Mutations in RAI1 associated with Smith-Magenis syndrome.

21 January 2018

1 reference

Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

21 January 2018

1 reference

A proposed classification for heritable human dentine defects with a description of a new entity

21 January 2018

1 reference

Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.

21 January 2018

1 reference

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

21 January 2018

1 reference

Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study

21 January 2018

1 reference

Evaluation of oral problems in an osteogenesis imperfecta population.

21 January 2018

1 reference

Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III.

21 January 2018

1 reference

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP

21 January 2018

1 reference

DSPP mutation in dentinogenesis imperfecta Shields type II

21 January 2018

1 reference

Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. Dentin phosphoprotein DNA sequence determination

21 January 2018

1 reference

Genomic organization, chromosomal mapping, and promoter analysis of the mouse dentin sialophosphoprotein (Dspp) gene, which codes for both dentin sialoprotein and dentin phosphoprotein.

21 January 2018

1 reference

Dentin glycoprotein: the protein in the middle of the dentin sialophosphoprotein chimera

21 January 2018

1 reference

Dentin sialoprotein and dentin phosphoprotein have distinct roles in dentin mineralization

21 January 2018

1 reference

Dentine dysplasia with sclerotic bone and skeletal anomalies inherited as an autosomal dominant trait

21 January 2018

1 reference

Dentin dysplasia, Type II: A rare autosomal dominant disorder

21 January 2018

1 reference

Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization

21 January 2018

1 reference

Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21

21 January 2018

1 reference

21 January 2018

1 reference

Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia.

21 January 2018

1 reference

Elevated skeletal osteopontin levels contribute to the hypophosphatasia phenotype in Akp2(-/-) mice

21 January 2018

1 reference

The etiology of eruption disorders - further evidence of a 'genetic paradigm'

21 January 2018

1 reference

Cellular and molecular basis of tooth eruption

21 January 2018

1 reference

Chronological gene expression of parathyroid hormone-related protein (PTHrP) in the stellate reticulum of the rat: implications for tooth eruption

21 January 2018

1 reference

OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis

21 January 2018

1 reference

RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis and regulation of bone mass and calcium metabolism

21 January 2018

1 reference

The clinical features and aetiological basis of primary eruption failure.

21 January 2018

1 reference

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption

21 January 2018

1 reference

Parathyroid hormone-related protein is required for tooth eruption

21 January 2018

1 reference

The influence of parathyroid hormone-related protein (PTHrP) on tooth-germ development and osteoclastogenesis in alveolar bone of PTHrP-knock out and wild-type mice in vitro.

21 January 2018

1 reference

Clinical and pathological features of pachyonychia congenita

21 January 2018

1 reference

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/WDEV.66

1 reference

29 August 2017

1 reference

PubMed ID

24009033