ALX4 dysfunction disrupts craniofacial and epidermal development - Test2 - elhamkhani - TriplyDB

ALX4 dysfunction disrupts craniofacial and epidermal development

ALX4 dysfunction disrupts craniofacial and epidermal development

http://www.wikidata.org/entity/Q24336580

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Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1 Modeling anterior development in mice: diet as modulator of risk for neural tube defects Whole-Genome Sequencing of Native Sheep Provides Insights into Rapid Adaptations to Extreme Environments.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.Solution NMR structures of homeodomains from human proteins ALX4, ZHX1, and CASP8AP2 contribute to the structural coverage of the Human Cancer Protein Interaction Network.Midline craniofacial malformations with a lipomatous cephalocele are associated with insufficient closure of the neural tube in the tuft mouse.A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses Craniofacial features resembling frontonasal dysplasia with a tubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse.Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses.Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele.Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation.To grow or not to grow: hair morphogenesis and human genetic hair disorders Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment.Genome-wide Target Enrichment-aided Chip Design: a 66 K SNP Chip for Cashmere Goat.Multiple-trait QTL mapping and genomic prediction for wool traits in sheep.Differential configurations involving binding of USF transcription factors and Twist1 regulate Alx3 promoter activity in mesenchymal and pancreatic cells.Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.Epigenetic silencing of Aristaless-like homeobox-4, a potential tumor suppressor gene associated with lung cancer.Investigating genomic and phenotypic parallelism between piscivorous and planktivorous lake trout (Salvelinus namaycush) ecotypes by means of RADseq and morphometrics analyses.Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele.Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia.ALX4, an epigenetically down regulated tumor suppressor, inhibits breast cancer progression by interfering Wnt/β-catenin pathway.Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child.Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.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.Genetic advances in craniosynostosis.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.Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.

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P2860

ALX4 dysfunction disrupts craniofacial and epidermal development

http://www.wikidata.org/entity/Q24336580

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2009 nî lūn-bûn

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2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2009 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年论文

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ALX4 dysfunction disrupts craniofacial and epidermal development

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ALX4 dysfunction disrupts craniofacial and epidermal development

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ALX4 dysfunction disrupts craniofacial and epidermal development

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ALX4 dysfunction disrupts craniofacial and epidermal development

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ALX4 dysfunction disrupts craniofacial and epidermal development

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ALX4 dysfunction disrupts craniofacial and epidermal development

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ALX4 dysfunction disrupts craniofacial and epidermal development

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ALX4 dysfunction disrupts craniofacial and epidermal development

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ALX4 dysfunction disrupts craniofacial and epidermal development

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Human Molecular Genetics

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Carien Niessen

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Elif Uz

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Emin Mavili

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Gokhan Tuncbilek

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Gokhan Yigit

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Hamza Okur

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Ibrahim Vargel

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Ingo Haase

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Mehmet Alikasifoglu

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Nurten Ayse Akarsu

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P2860

LMX1B transactivation and expression in nail-patella syndrome

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.

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

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

Alx4 binding to LEF-1 regulates N-CAM promoter activity

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

Anatomical classification facial, cranio-facial and latero-facial clefts.

Frontonasal dysplasia.

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4605789

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10.1093/HMG/DDP391

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22

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Hulya Kayserili

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