Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 - Wikidata - awgldk - TriplyDB

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

http://www.wikidata.org/entity/Q28305170

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence Overlap of Patau and Pierre Robin syndromes along with abnormal metabolism: an interesting case study Role of SOX9 in the Etiology of Pierre-Robin Syndrome Sox9 plays multiple roles in the lung epithelium during branching morphogenesis Prdm16 is required for normal palatogenesis in mice.Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.Transferrin receptor facilitates TGF-β and BMP signaling activation to control craniofacial morphogenesis.A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence BMPR1B mutation causes Pierre Robin sequence Analysis of early human neural crest development.16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.Sox9 function in craniofacial development and disease.Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.Mice with Tak1 deficiency in neural crest lineage exhibit cleft palate associated with abnormal tongue development.Abnormal mandibular growth and the condylar cartilage.Disruption of long-distance highly conserved noncoding elements in neurocristopathies.Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck.SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements.Non-coding variation in disorders of sex development.Pierre robin sequence and the pediatric dentist.Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome.Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.Pierre robin sequence Ameloblastic Fibro-Odontoma of the Maxilla in a Pierre-Robin Sequence Patient.Congenital heart defects in patients with deletions upstream of SOX9.A novel association of campomelic dysplasia with hydrocephalus due to an unbalanced chromosomal translocation upstream of SOX9.A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.Etiology and pathogenesis of robin sequence in a large Dutch cohort.Identification of five novel genetic loci related to facial morphology by genome-wide association studies.

P2860

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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

http://www.wikidata.org/entity/Q28305170

description

2007 nî lūn-bûn

@nan

2007 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2007 թվականի հունիսին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

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type

label

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

@ast

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

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prefLabel

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

@ast

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

@en

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

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JMG.2006.046177

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Journal of Medical Genetics

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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

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P2093

Claus Hansen

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Karen F Henriksen

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Karl Erik Jensen

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Kirsten Mølsted

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Lars A Larsen

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Linda P Jakobsen

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Mary A Knudsen

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Steen B Christensen

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Zeynep Tümer

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P2860

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

A clinical and genetic study of campomelic dysplasia.

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

Normalization and subtraction: two approaches to facilitate gene discovery

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

Determination of stable housekeeping genes, differentially regulated target genes and sample integrity: BestKeeper – Excel-based tool using pair-wise correlations

Long-range control of gene expression: emerging mechanisms and disruption in disease.

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

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10.1136/JMG.2006.046177

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6

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44

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Reinhard Ullmann

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2007-06-01T00:00:00Z

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6285727

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