Sox9 function in craniofacial development and disease

scientific article

Sox9 function in craniofacial development and disease is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1002/DVG.20717
P932PMC publication ID3079054
P698PubMed publication ID21309066
P5875ResearchGate publication ID49824711

P2093author name stringYoung-Hoon Lee
Jean-Pierre Saint-Jeannet
P2860cites workA clinical and genetic study of campomelic dysplasiaQ24517890
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control regionQ24540293
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversalQ24672071
The phenotype of survivors of campomelic dysplasiaQ24678969
Pairing SOX off: with partners in the regulation of embryonic developmentQ28139502
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasiaQ28142043
Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicatorsQ28143448
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activationQ28185681
Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulatorsQ28213186
Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene familiesQ28218989
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceQ28235961
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related geneQ28242642
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9Q28243215
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1Q28261277
Toward understanding SOX9 function in chondrocyte differentiationQ28269331
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlationsQ28301782
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2Q28305170
SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouseQ28507337
The transcriptional control of trunk neural crest induction, survival, and delaminationQ28511755
Sox9 is required for cartilage formationQ28588649
Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralizationQ28590890
Runx2 is essential for larval hyobranchial cartilage formation in Xenopus laevisQ33283421
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocationQ33593930
Sox9 is required for determination of the chondrogenic cell lineage in the cranial neural crestQ35234587
Sox proteins and neural crest developmentQ36205247
Transcriptional control of chondrocyte fate and differentiationQ36269368
Neural crest cells and the community of plan for craniofacial development: historical debates and current perspectivesQ36640183
A matter of identity: transcriptional control in oligodendrocytesQ37134194
Long-range regulation at the SOX9 locus in development and diseaseQ37497734
SoxE function in vertebrate nervous system developmentQ37568563
SoxE factors as multifunctional neural crest regulatory factorsQ37636858
Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development.Q37776076
Disruption of long-distance highly conserved noncoding elements in neurocristopathiesQ37822860
A zebrafish sox9 gene required for cartilage morphogenesis.Q38361662
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.Q40150521
Possible roles of Runx1 and Sox9 in incipient intramembranous ossificationQ40484467
The transcription factor Sox9 is required for cranial neural crest development in Xenopus.Q43863973
A pair of Sox: distinct and overlapping functions of zebrafish sox9 co-orthologs in craniofacial and pectoral fin developmentQ45249861
Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression patternQ47225412
Neural crest development is regulated by the transcription factor Sox9.Q47590677
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasiaQ47819908
Neural crest development in the Xenopus laevis embryo, studied by interspecific transplantation and scanning electron microscopyQ48186610
Zebrafish sox9b is an early neural crest markerQ48604674
Parallel expression of Sox9 and Col2a1 in cells undergoing chondrogenesisQ48649327
The early history of the Sox genesQ48933333
Two sox9 genes on duplicated zebrafish chromosomes: expression of similar transcription activators in distinct sitesQ49024161
Sox9 neural crest determinant gene controls patterning and closure of the posterior frontal cranial suture.Q52050351
Sox10 regulates the development of neural crest-derived melanocytes in Xenopus.Q52103988
Acampomelic campomelic syndrome.Q52126265
Campomelic syndrome and deletion of SOX9.Q52177723
The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos.Q52211686
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasiaQ57911323
Acampomelic campomelic syndromeQ58001458
Variable Expression of Campomelic Dysplasia in a Father and his 46, XY DaughterQ58443452
Early requirement of the transcriptional activator Sox9 for neural crest specification in Xenopus.Q64983202
[The campomelic syndrome]Q71786081
Dimerization of SOX9 is required for chondrogenesis, but not for sex determinationQ73599679
Sox9 mRNA expression in the developing palate and craniofacial muscles and skeletonsQ82876792
Segmentation of the vertebrate skull: neural-crest derivation of adult cartilages in the clawed frog, Xenopus laevisQ84351898
P433issue4
P304page(s)200-208
P577publication date2011-04-01
P1433published inGenesisQ5532784
P1476titleSox9 function in craniofacial development and disease
P478volume49

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cites work (P2860)
Q37315941A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction
Q92353322A new transgenic reporter line reveals Wnt-dependent Snai2 re-expression and cranial neural crest differentiation in Xenopus
Q52563038A novel association of campomelic dysplasia with hydrocephalus due to an unbalanced chromosomal translocation upstream of SOX9.
Q34701981Acid ceramidase maintains the chondrogenic phenotype of expanded primary chondrocytes and improves the chondrogenic differentiation of bone marrow-derived mesenchymal stem cells
Q92278757Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
Q38346684Analysis of the Relationship Between Micrognathia and Cleft Palate: A Systematic Review.
Q50506725BMP signaling regulates the fate of chondro-osteoprogenitor cells in facial mesenchyme in a stage-specific manner.
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Q99712191CXCL12-CXCR4 Interplay Facilitates Palatal Osteogenesis in Mice
Q47735897Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development
Q90093469Deletion of neural tube defect-associated gene Mthfd1l causes reduced cranial mesenchyme density
Q90052958Differential DNA methylation of vocal and facial anatomy genes in modern humans
Q35751790Dioxin disrupts cranial cartilage and dermal bone development in zebrafish larvae
Q50542874Dislocated Tongue Muscle Attachment and Cleft Palate Formation.
Q92756924Early Transplantation of Human Cranial Bone-derived Mesenchymal Stem Cells Enhances Functional Recovery in Ischemic Stroke Model Rats
Q38734276Effect of craniofacial genotype on the relationship between morphology and feeding performance in cichlid fishes.
Q62796559Extensive Regulatory Changes in Genes Affecting Vocal and Facial Anatomy Separate Modern from Archaic Humans
Q43843507External stabilization for severe tracheobronchomalacia using separated ring-reinforced ePTFE grafts is effective and safe on a long-term basis.
Q28592233Fuz regulates craniofacial development through tissue specific responses to signaling factors
Q47147634Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network.
Q49830752Genome-wide mapping of global-to-local genetic effects on human facial shape.
Q37183232Identification of candidate downstream targets of TGFβ signaling during palate development by genome-wide transcript profiling
Q35318805Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence
Q88628981Increased Expression of Transcription Factor SRY-box-Containing Gene 11 (Sox11) Enhances Neurite Growth by Regulating Neurotrophic Factor Responsiveness
Q28312142Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2
Q36778489Investigation of the effects of estrogen on skeletal gene expression during zebrafish larval head development
Q38712987Knockdown of SOX9 Inhibits the Proliferation, Invasion, and EMT in Thyroid Cancer Cells
Q28596914Language Impairments in ASD Resulting from a Failed Domestication of the Human Brain
Q44255315Late-emigrating trunk neural crest cells in turtle embryos generate an osteogenic ectomesenchyme in the plastron.
Q58124864Male individuals with Robin Sequence: emerging significant association with ABO and RhD blood group phenotypes
Q99201818Mcrs1 interacts with Six1 to influence early craniofacial and otic development
Q39159160Modeling human craniofacial disorders in Xenopus
Q64120816Molecular Mechanisms of Synaptic Dysregulation in Fragile X Syndrome and Autism Spectrum Disorders
Q36141229Molecular mechanisms regulating impaired neurogenesis of fragile X syndrome human embryonic stem cells
Q36237975Normal Levels of Sox9 Expression in the Developing Mouse Testis Depend on the TES/TESCO Enhancer, but This Does Not Act Alone.
Q34070811Novel migrating mouse neural crest cell assay system utilizing P0-Cre/EGFP fluorescent time-lapse imaging.
Q50470622Pa2G4 is a novel Six1 co-factor that is required for neural crest and otic development.
Q33687947Pituitary gland development and disease: from stem cell to hormone production
Q35796731Porcine SOX9 Gene Expression Is Influenced by an 18 bp Indel in the 5'-Untranslated Region
Q37022749Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome
Q92930977Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development
Q33976991Sox9 mediates Notch1-induced mesenchymal features in lung adenocarcinoma
Q37980884Stüve-Wiedemann syndrome and related bent bone dysplasias
Q64063248miR-1-3p suppresses proliferation of hepatocellular carcinoma through targeting SOX9

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