Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. - Wikidata - awgldk - TriplyDB

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

http://www.wikidata.org/entity/Q34978768

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ALX4 dysfunction disrupts craniofacial and epidermal development Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology Modeling anterior development in mice: diet as modulator of risk for neural tube defects Transcriptome profiling reveals expression signatures of cranial neural crest cells arising from different axial levels.Embryonic defence mechanisms against glucose-dependent oxidative stress require enhanced expression of Alx3 to prevent malformations during diabetic pregnancy.A primary cilia-dependent etiology for midline facial disorders.Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly.BMP-2 Induced Expression of Alx3 That Is a Positive Regulator of Osteoblast Differentiation Midline craniofacial malformations with a lipomatous cephalocele are associated with insufficient closure of the neural tube in the tuft mouse.Craniofacial features resembling frontonasal dysplasia with a tubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse.Neural crest cell survival is dependent on Rho kinase and is required for development of the mid face in mouse embryos Developmental mechanisms of stripe patterns in rodents Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats.Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele.Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.From birth to maturity: midline tessier 0-14 craniofacial cleft patients who have completed protocol management at a single craniofacial unit.Evolution of the Alx homeobox gene family: parallel retention and independent loss of the vertebrate Alx3 gene.Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.Genomic data illuminates demography, genetic structure and selection of a popular dog breed Using frogs faces to dissect the mechanisms underlying human orofacial defects.Enhancer divergence and cis-regulatory evolution in the human and chimp neural crest.Mllt10 knockout mouse model reveals critical role of Af10-dependent H3K79 methylation in midfacial development Fgf8 dosage determines midfacial integration and polarity within the nasal and optic capsules.Nasal Reconstruction of a Frontonasal Dysplasia Deformity Using Aesthetic Rhinoplasty Techniques.Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia.Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child.Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.Gnawing at striping - how rodents evolve striped patterns.Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.Mild nasal clefting may be predictive for ALX4 heterozygotes.Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.Oculoauriculofrontonasal Dysplasia Syndrome With Additional Clinical Features.Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation Letters to the Editor

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Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

http://www.wikidata.org/entity/Q34978768

description

2009 nî lūn-bûn

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2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2009 թվականի ապրիլին հրատարակված գիտական հոդված

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2009年の論文

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J.AJHG.2009.04.009

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American Journal of Human Genetics

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Frontorhiny, a distinctive pre ...... ons in the ALX3 homeobox gene.

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A Jeannette M Hoogeboom

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Alexis A Robinson

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David Johnson

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Dianne Gerrelli

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Irene M J Mathijssen

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Jane A Hurst

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Meenakshi Bhat

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Melissa M Lees

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Peter Hammond

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Raoul C M Hennekam

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P2860

A systematic approach to mapping recessive disease genes in individuals from outbred populations

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

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

PBX and MEIS as non-DNA-binding partners in trimeric complexes with HOX proteins

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Analysis of homeodomain specificities allows the family-wide prediction of preferred recognition sites

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13

The third helix of the homeodomain of paired class homeodomain proteins acts as a recognition helix both for DNA and protein interactions

Physical and genetic interactions between Alx4 and Cart1

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698-705

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5

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Peter Nürnberg

Andrew Oliver Mungo Wilkie

Gudrun Nürnberg

Peter J Scambler

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2009-04-30T00:00:00Z

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24396341

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19409524

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