Debug Stats | ### Total Build Time: 82 ms 53.776 KB CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 376 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 397 bytes- Skipping details on:
CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes - Skipping details on:
CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 247 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 990 bytesCONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 560 bytesCONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 6.700 KBCONCEPT_RELATIONSHIPS gt=60 ms Completed: 60 ms rowSize= 13.752 KBCONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 29.637 KBCONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.150 KBCONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes- Reload Stats
|
Genes (18)
Species: human : 18 | |
Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | | Human | RAB23 | 51715 | RAB23, member RAS oncogene family | Craniosynostosis (coronal, sagittal, lambdoid sutures) | Human | RECQL4 | 9401 | RecQ protein-like 4 | Craniosynostosis (coronal, metopic, lambdoidal) | Human | TWIST1 | 7291 | twist basic helix-loop-helix transcription factor 1 | no evidence that mosaicism for mutations, normally associated with syndromal forms of craniosynostosis, occur in single suture craniosynostosis Some TWIST1 mutations in the RUNX2 binding site are associated with craniosynostosis Craniosynostosis of coronal, lambdoid, and/or metopic sutures Dimer partner selection is an important mediator of Twist1 function in transgenic mice, providing a mechanistic understanding of craniosynostosis due to TWIST haploinsufficiency | Human | TGFBR2 | 7048 | transforming growth factor, beta receptor II (70/80kDa) | Craniosynostosis (uncommon) | Human | TGFBR1 | 7046 | transforming growth factor, beta receptor 1 | Craniosynostosis (uncommon) | Human | STAT3 | 6774 | signal transducer and activator of transcription 3 (acute-phase response factor) | | Human | POR | 5447 | P450 (cytochrome) oxidoreductase | POR deficiency is a new disease, distinct from the craniosynostosis syndromes caused by FGFR mutations | Human | PDGFRA | 5156 | platelet-derived growth factor receptor, alpha polypeptide | PDGFRalpha signaling stimulates osteogenesis of neural crest cells-derived osteoblasts by activating the PLC-gamma pathway, suggesting an involvement of this pathway in the etiology of human craniosynostosis | Human | NELL1 | 4745 | NEL-like 1 (chicken) | Transgenic mice overexpressing Nell-1 develop craniosynostosis | Human | JUN | 3725 | jun proto-oncogene | activator protein 1 and ERKs play crucial roles in FGF2-stimulated premature cranial suture closure | Human | GLI3 | 2737 | GLI family zinc finger 3 | | Human | FGFR2 | 2263 | fibroblast growth factor receptor 2 | Craniosynostosis, coronal and lambdoidal Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene Craniosynostosis (coronal with or without sagittal suture) Craniosynostosis of coronal, lambdoid, and/or metopic sutures role of Ser351Cys mutation in causing craniosynostosis and sacral appendage genomic screening reveals a wide spectrum of mutations in patients with syndromic craniosynostosis no evidence that mosaicism for mutations, normally associated with syndromal forms of craniosynostosis, occur in single suture craniosynostosis Craniosynostosis (coronal) Craniosynostosis (coronal, sagittal, lambdoid sutures) Title:Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.|Association:Y|Conclusion:We conclude that the spectrum of FGFR2 mutations causing craniosynostosis is wider than previously recognized but that, nevertheless, the IgIIIa/IIIc region represents a genuine mutation hotspot. | Human | FGFR3 | 2261 | fibroblast growth factor receptor 3 | Title:FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.|Association:Not Found|Conclusion:This highlights the need for genetic analysis and long-term clinical follow-up in apparently "isolated" coronal synostosis. The FGFR3-associated coronal synostosis syndrome (Muenke craniosynostosis) is caused by a point mutation (C749G) on the FGFR3 gene resulting in a Pro250Arg substitution no evidence that mosaicism for mutations, normally associated with syndromal forms of craniosynostosis, occur in single suture craniosynostosis Title:New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.|Association:Y|Conclusion:Our data and those of other investigators suggest that we should begin integrating molecular diagnosis with phenotypic diagnosis of craniosynostoses. | Human | FGFR1 | 2260 | fibroblast growth factor receptor 1 | no evidence that mosaicism for mutations, normally associated with syndromal forms of craniosynostosis, occur in single suture craniosynostosis Craniosynostosis (coronal with or without sagittal suture) | Human | FBN1 | 2200 | fibrillin 1 | | Human | BMP4 | 652 | bone morphogenetic protein 4 | Craniosynostosis, lambdoid | Human | ALPL | 249 | alkaline phosphatase, liver/bone/kidney | Craniosynostosis in infantile form |
|