(Q38641260)

5 September 2017

title

From Bench to Bedside and Back: Improving Diagnosis and Treatment of Craniofacial Malformations Utilizing Animal Models (English)

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5 September 2017

Alice F Goodwin

1

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5 September 2017

Rebecca Kim

series ordinal

2

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5 September 2017

Jeffrey O Bush

series ordinal

3

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5 September 2017

Ophir D Klein

series ordinal

4

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5 September 2017

publication date

6 October 2015

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Current Topics in Developmental Biology

5 September 2017

published in

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5 September 2017

volume

115

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5 September 2017

page(s)

459-492

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Molecular and cellular bases of syndromic craniosynostoses

5 September 2017

cites work

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12 December 2020

Craniofacial and upper airway cephalometrics in hypohidrotic ectodermal dysplasia

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12 December 2020

Indirect modulation of Shh signaling by Dlx5 affects the oral-nasal patterning of palate and rescues cleft palate in Msx1-null mice

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12 December 2020

Germline KRAS mutations cause Noonan syndrome

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12 December 2020

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

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12 December 2020

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

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12 December 2020

Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras

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12 December 2020

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

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12 December 2020

X-linked ectodermal dysplasia in the dog

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12 December 2020

Hereditary Ectodermal Dysplasia

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12 December 2020

Transforming growth factor-beta3 promotes mesenchymal cell proliferation and angiogenesis mediated by the enhancement of cyclin D1, Flk-1, and CD31 gene expression during CL/Fr mouse lip fusion.

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12 December 2020

Management of Craniosynostosis

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12 December 2020

The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo

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12 December 2020

A restricted spectrum of NRAS mutations causes Noonan syndrome

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12 December 2020

Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish

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12 December 2020

Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.

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12 December 2020

External craniofacial osteodistraction in complex craniosynostoses

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12 December 2020

Targeted disruption of Kir2.1 and Kir2.2 genes reveals the essential role of the inwardly rectifying K(+) current in K(+)-mediated vasodilation.

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12 December 2020

Frontonasal process-specific disruption of AP-2alpha results in postnatal midfacial hypoplasia, vascular anomalies, and nasal cavity defects

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12 December 2020

Transgenic mice with targeted inactivation of the Col2 alpha 1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone

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12 December 2020

Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

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12 December 2020

p53, the cellular gatekeeper for growth and division

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12 December 2020

Anomalies of tooth formation in hypohidrotic ectodermal dysplasia.

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12 December 2020

Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes

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12 December 2020

The genetics of isolated orofacial clefts: from genotypes to subphenotypes

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12 December 2020

Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis.

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12 December 2020

The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway

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12 December 2020

Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis

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12 December 2020

Msx homeobox gene family and craniofacial development

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12 December 2020

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

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12 December 2020

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors

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12 December 2020

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

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12 December 2020

Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.

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12 December 2020

Genetic maternal effects on cleft lip frequency in A/J and CL/Fr mice

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12 December 2020

Hypohidrotic ectodermal dysplasia

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12 December 2020

The oral manifestations of Apert syndrome

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12 December 2020

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

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12 December 2020

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

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12 December 2020

Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome

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12 December 2020

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

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12 December 2020

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)

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12 December 2020

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

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12 December 2020

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome

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12 December 2020

Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse

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12 December 2020

MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS

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12 December 2020

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12 December 2020

Specific inactivation of Twist1 in the mandibular arch neural crest cells affects the development of the ramus and reveals interactions with hand2.

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12 December 2020

A totally sex-linked gene in the house mouse.

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12 December 2020

A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling

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12 December 2020

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation

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12 December 2020

The Noonan syndrome--a review of the clinical and genetic features of 27 cases

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12 December 2020

Identification of ectodysplasin target genes reveals the involvement of chemokines in hair development.

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12 December 2020

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

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12 December 2020

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

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12 December 2020

The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome).

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12 December 2020

Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization

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12 December 2020

Ectodermal dysplasias

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12 December 2020

The tabby syndrome in the mouse

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12 December 2020

Craniofacial and dental development in Costello syndrome.

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12 December 2020

Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain.

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12 December 2020

A mouse model for hereditary thyroid dysgenesis and cleft palate

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12 December 2020

Permanent correction of an inherited ectodermal dysplasia with recombinant EDA.

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12 December 2020

The homeodomain protein vax1 is required for axon guidance and major tract formation in the developing forebrain

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12 December 2020

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

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12 December 2020

Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

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12 December 2020

Recurrence risk for offspring of twins discordant for oral cleft: a population-based cohort study of the Danish 1936-2004 cleft twin cohort

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12 December 2020

Fgfr1 regulates patterning of the pharyngeal region

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12 December 2020

Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome

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12 December 2020

Stimulation of ectodermal organ development by Ectodysplasin-A1.

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12 December 2020

Ectodysplasin-A1 is sufficient to rescue both hair growth and sweat glands in Tabby mice

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12 December 2020

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

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12 December 2020

Hypohidrotic ectodermal dysplasia and sudden infant death

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12 December 2020

Development of the upper lip: morphogenetic and molecular mechanisms

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12 December 2020

Type 1 fibroblast growth factor receptor in cranial neural crest cell-derived mesenchyme is required for palatogenesis.

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12 December 2020

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

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12 December 2020

Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries.

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12 December 2020

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

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12 December 2020

Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis

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12 December 2020

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

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12 December 2020

Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome

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12 December 2020

TGF-beta-3 promotes scarless repair of cleft lip in mouse fetuses

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12 December 2020

Control of skeletal patterning by ephrinB1-EphB interactions

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12 December 2020

The etiopathogenesis of cleft lip and cleft palate: usefulness and caveats of mouse models

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12 December 2020

From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome

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12 December 2020

A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis

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12 December 2020

Cell autonomous requirement for Tgfbr2 in the disappearance of medial edge epithelium during palatal fusion

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12 December 2020

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

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12 December 2020

Distinct functions for Bmp signaling in lip and palate fusion in mice

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12 December 2020

HRAS and the Costello syndrome

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12 December 2020

Gli3-deficient mice exhibit cleft palate associated with abnormal tongue development

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12 December 2020

Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging

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12 December 2020

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines

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12 December 2020

Losartan added to β-blockade therapy for aortic root dilation in Marfan syndrome: a randomized, open-label pilot study.

1 reference

12 December 2020

A Ser250Trp substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis

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12 December 2020

Convergence and extrusion are required for normal fusion of the mammalian secondary palate

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12 December 2020

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

1 reference

12 December 2020

The ectodermal dysplasias. Problems of classification and some newer syndromes

1 reference

12 December 2020

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

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12 December 2020

Pathogenesis of cleft palate in TGF-beta3 knockout mice

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12 December 2020

A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures

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12 December 2020

Epithelial and ectomesenchymal role of the type I TGF-beta receptor ALK5 during facial morphogenesis and palatal fusion

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12 December 2020

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

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12 December 2020

Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia

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12 December 2020

Mutations of the BRAF gene in human cancer

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12 December 2020

Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice

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12 December 2020

Analysis of the temporal requirement for eda in hair and sweat gland development

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12 December 2020

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

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12 December 2020

Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.

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12 December 2020

Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch

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12 December 2020

De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.

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12 December 2020

Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

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12 December 2020

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

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12 December 2020

Analysis of craniofacial development in children with hypohidrotic ectodermal dysplasia.

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12 December 2020

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

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12 December 2020

Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles

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12 December 2020

Palatogenesis: morphogenetic and molecular mechanisms of secondary palate development

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12 December 2020

Intraoral features of Apert's syndrome

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12 December 2020

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

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12 December 2020

AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice

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12 December 2020

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

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12 December 2020

Of Marfan's syndrome, mice, and medications

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12 December 2020

The evolution of human genetic studies of cleft lip and cleft palate

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12 December 2020

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand

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12 December 2020

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

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12 December 2020

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

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12 December 2020

Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.

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12 December 2020

A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes

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12 December 2020

Long-range enhancers regulating Myc expression are required for normal facial morphogenesis

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12 December 2020

Wnt1-Cre-mediated deletion of AP-2alpha causes multiple neural crest-related defects

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12 December 2020

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses

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12 December 2020

Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects

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12 December 2020

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

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12 December 2020

Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling.

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12 December 2020

Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development

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12 December 2020

Roles of BMP signaling pathway in lip and palate development

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12 December 2020

Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF

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12 December 2020

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

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12 December 2020

A model for the pharmacological treatment of crouzon syndrome

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12 December 2020

Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis

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12 December 2020

Endoscopic craniectomy for early surgical correction of sagittal craniosynostosis

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12 December 2020

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

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12 December 2020

Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome

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12 December 2020

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

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12 December 2020

Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal interaction

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12 December 2020

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

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12 December 2020

Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial

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12 December 2020

Treacher Collins syndrome

1 reference

12 December 2020

A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis

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12 December 2020

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation

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12 December 2020

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.

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12 December 2020

Epithelial-specific requirement of FGFR2 signaling during tooth and palate development

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12 December 2020

New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.

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12 December 2020

Association between interferon regulatory factor 6 gene polymorphisms and nonsyndromic cleft lip with or without cleft palate in a chinese population

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12 December 2020

Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate

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12 December 2020

Mandibulo-facial dysostosis. (Treacher-Collins syndrome)

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12 December 2020

Germline mutations in HRAS proto-oncogene cause Costello syndrome

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12 December 2020

Association of MSX1 and TGFB3 with nonsyndromic clefting in humans

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12 December 2020

Combined deficiencies of Msx1 and Msx2 cause impaired patterning and survival of the cranial neural crest

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12 December 2020

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

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12 December 2020

RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis

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12 December 2020

Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease

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12 December 2020

Transforming growth factor-beta 3 is required for secondary palate fusion

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12 December 2020

A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.

1 reference

12 December 2020

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats

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12 December 2020

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

1 reference

12 December 2020

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

1 reference

12 December 2020

Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice

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12 December 2020

Atenolol versus losartan in children and young adults with Marfan's syndrome

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12 December 2020

Endogenous expression of Hras(G12V) induces developmental defects and neoplasms with copy number imbalances of the oncogene

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12 December 2020

Genetic and pathogenetic aspects of Noonan syndrome and related disorders

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12 December 2020

Breakthroughs in the genetics of orofacial clefting

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12 December 2020

Smad4-Irf6 genetic interaction and TGFβ-mediated IRF6 signaling cascade are crucial for palatal fusion in mice

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12 December 2020

Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

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12 December 2020

Genes and genotypes affecting the teeth of the mouse

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12 December 2020

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12 December 2020

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

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12 December 2020

Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation

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12 December 2020

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

1 reference

12 December 2020

The mechanism of TGF-β signaling during palate development

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12 December 2020

Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development

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12 December 2020

K-RasV14I recapitulates Noonan syndrome in mice

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12 December 2020

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

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12 December 2020

Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage.

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12 December 2020

A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition

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12 December 2020

DOMINANT HEREDITARY ACROCEPHALOSYNDACTYLIA

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12 December 2020

The ectodysplasin pathway: from diseases to adaptations

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12 December 2020

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)

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12 December 2020

Craniosynostosis and related limb anomalies

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12 December 2020

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development

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12 December 2020

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation

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12 December 2020

Deregulated Ras signaling in developmental disorders: new tricks for an old dog.

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12 December 2020

Two cases in which the skin, hair and teeth were very imperfectly developed

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12 December 2020

A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias

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12 December 2020

Cleft lip and palate: understanding genetic and environmental influences

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12 December 2020

Ectodermal dysplasias: a clinical classification and a causal review

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12 December 2020

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies

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12 December 2020

10.1016/BS.CTDB.2015.07.003

Identifiers

DOI

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5 September 2017

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