Genetics of craniofacial development and malformation (Q34271559)

1 August 2017

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title

Genetics of craniofacial development and malformation (English)

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Andrew Oliver Mungo Wilkie

1 August 2017

series ordinal

1

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1 August 2017

Morriss-Kay GM

2

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PubMed ID

11389462

1 August 2017

language of work or name

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1 June 2001

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1 August 2017

Nature Reviews Genetics

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1 August 2017

2

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1 August 2017

458-468

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1 August 2017

6

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https://scigraph.springernature.com/pub.10.1038/35076601

1 August 2017

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Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

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7 January 2021

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

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7 January 2021

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

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7 January 2021

Sek4 and Nuk receptors cooperate in guidance of commissural axons and in palate formation

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7 January 2021

Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation

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Cre-mediated gene inactivation demonstrates that FGF8 is required for cell survival and patterning of the first branchial arch

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Chimeras and mosaics in mouse mutant analysis

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

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An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

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

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7 January 2021

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

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Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

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Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity

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7 January 2021

Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog

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Mutations in holoprosencephaly

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7 January 2021

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

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7 January 2021

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

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7 January 2021

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

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7 January 2021

The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation

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TGFbeta signaling in growth control, cancer, and heritable disorders

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Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

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Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

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Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

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Cholesterol modification of hedgehog signaling proteins in animal development

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Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine

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Mouse Otx2 functions in the formation and patterning of rostral head.

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Axis development and early asymmetry in mammals

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Current concepts in the understanding and management of hemifacial microsomia

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The pathogenesis of the first and second branchial arch syndrome

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Transgenic mouse model of hemifacial microsomia: cloning and characterization of insertional mutation region on chromosome 10.

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A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

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Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia

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7 January 2021

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

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7 January 2021

Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1.

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7 January 2021

Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

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7 January 2021

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

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7 January 2021

The many faces and factors of orofacial clefts

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7 January 2021

Association of MSX1 and TGFB3 with nonsyndromic clefting in humans

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7 January 2021

Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

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7 January 2021

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

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7 January 2021

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

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7 January 2021

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

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7 January 2021

Ryk-deficient mice exhibit craniofacial defects associated with perturbed Eph receptor crosstalk

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7 January 2021

The 22q11 deletion syndromes

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7 January 2021

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

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7 January 2021

Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency

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7 January 2021

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

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7 January 2021

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

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7 January 2021

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

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7 January 2021

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

7 January 2021

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

1 reference

7 January 2021

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

1 reference

7 January 2021

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

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7 January 2021

The origins, patterns and implications of human spontaneous mutation

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7 January 2021

Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome.

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7 January 2021

Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

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7 January 2021

Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome

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7 January 2021

Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A

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7 January 2021

Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis

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7 January 2021

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

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7 January 2021

The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

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7 January 2021

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

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7 January 2021

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna

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7 January 2021

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

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7 January 2021

The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome

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7 January 2021

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

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7 January 2021

Cranial sutures as intramembranous bone growth sites

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7 January 2021

Embryonic folate metabolism and mouse neural tube defects.

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7 January 2021

Mammalian Dlx homeobox gene control of craniofacial and inner ear morphogenesis

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7 January 2021

Signaling pathways crucial for craniofacial development revealed by endothelin-A receptor-deficient mice.

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7 January 2021

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

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7 January 2021

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

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7 January 2021

A chromosomal deletion map of human malformations.

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7 January 2021

A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans

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7 January 2021

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7 January 2021

Mouse models for neural tube closure defects

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7 January 2021

Signalling interactions during facial development.

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7 January 2021

Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest

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7 January 2021

A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a selector gene

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7 January 2021

Defects in limb, craniofacial, and thymic development in Jagged2 mutant mice

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development

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7 January 2021

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

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7 January 2021

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

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7 January 2021

Identifiers

DOI

10.1038/35076601

1 reference

PubMed ID

11389462

Dimensions Publication ID

1 August 2017

0 references

1 reference

PubMed ID

11389462