Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")
about
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeBiomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesisThe glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin RING ligase-mediated turnover of Fbw7Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutationsA two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cellsTargeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesisA new case of lower extremity glomus tumor up-to date review and case reportVascular anomalies: from genetics toward models for therapeutic trialsBuilding and remodelling Cullin-RING E3 ubiquitin ligasesStructure of a Glomulin-RBX1-CUL1 Complex: Inhibition of a RING E3 Ligase through Masking of Its E2-Binding SurfaceUnderstanding venous malformations of the head and neck: a comprehensive insight.Complete pain relief following treatment of a glomangiomyoma with the pulsed dye laser.Cerebral cavernous malformation: new molecular and clinical insights.Sent to destroy: the ubiquitin proteasome system regulates cell signaling and protein quality control in cardiovascular development and disease.Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.From blue jeans to blue genes.Shigella IpaH7.8 E3 ubiquitin ligase targets glomulin and activates inflammasomes to demolish macrophages.Pathogenesis of vascular anomalies.The pathobiology of vascular malformations: insights from human and model organism genetics.Update on the molecular genetics of vascular anomalies.Venous malformation: update on aetiopathogenesis, diagnosis and management.Heredity of port-wine stains: investigation of families without a RASA1 mutationThe COP9 signalosome and cullin-RING ligases in the heartLaser Therapy for an Acquired Glomuvenous Malformation (Glomus Tumour): A Nonsurgical Approach.Phosphoinositide 3-kinase: a new kid on the block in vascular anomalies.Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.Genotypes and phenotypes of 162 families with a glomulin mutation.Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.From germline towards somatic mutations in the pathophysiology of vascular anomalies.Vascular and perivascular lesions of skin and soft tissues in children and adolescents.Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.Vascular anomalies of the head and neck: a review of genetics.Large plaque-like glomangioma in a patient with multiple glomus tumours: review of imaging and histology.Vascular tumours in infants. Part I: benign vascular tumours other than infantile haemangioma.Subfascial involvement in glomuvenous malformation.Malignant glomus tumor of the thyroid gland where is heretofore an unreported organ: a case report and literature review.Vascular heterogeneity and specialization in development and disease.Glomus tumor closely related to a branch of the left sural nerve: a case of a rare lesion occurring at unusual location.
P2860
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P2860
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")
description
2002 nî lūn-bûn
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2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@ast
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@en
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@en-gb
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@nl
type
label
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@ast
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@en
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@en-gb
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@nl
prefLabel
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@ast
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@en
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@en-gb
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@nl
P2093
P2860
P356
P1476
Mutations in a novel factor, g ...... malformations ("glomangiomas")
@en
P2093
Bjorn R Olsen
John B Mulliken
Laurence M Boon
Matthew L Warman
Michella Ghassibé
Odile Enjolras
P2860
P304
P356
10.1086/339492
P407
P577
2002-04-01T00:00:00Z