Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
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The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin RING ligase-mediated turnover of Fbw7A new case of lower extremity glomus tumor up-to date review and case reportVascular anomalies: from genetics toward models for therapeutic trialsStructure of a Glomulin-RBX1-CUL1 Complex: Inhibition of a RING E3 Ligase through Masking of Its E2-Binding SurfaceFrom blue jeans to blue genes.Shigella IpaH7.8 E3 ubiquitin ligase targets glomulin and activates inflammasomes to demolish macrophages.The pathobiology of vascular malformations: insights from human and model organism genetics.Multiple widespread blue nodules: a clinicopathological caseClinical and histopathological diagnosis of glomus tumor: an institutional experience of 138 cases.Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.Genotypes and phenotypes of 162 families with a glomulin mutation.Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangiomaFrom germline towards somatic mutations in the pathophysiology of vascular anomalies.Recent progress in studies of infantile hemangioma.Vascular and perivascular lesions of skin and soft tissues in children and adolescents.Diffuse capillary malformation in association with fetal pleural effusion: report of five patients.Pediatric dermatohistopathology--histopathology of skin diseases in newborns and infants.Glomus tumours of the hand: Review of literature.Asymptomatic Glomus Tumor of the Mediastinum.A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations.[Multiple blue nodules].Multiple pebbly blue papules in a segmental distribution.Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.Multiple glomus tumor on the anteromedial side of leg.Molecular Basis of Vascular Birthmarks.Congenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and AscitesVascular Malformations
P2860
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P2860
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
description
2005 nî lūn-bûn
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2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2005年の論文
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2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
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name
Four common glomulin mutations ...... evidence for a founder effect.
@ast
Four common glomulin mutations ...... evidence for a founder effect.
@en
type
label
Four common glomulin mutations ...... evidence for a founder effect.
@ast
Four common glomulin mutations ...... evidence for a founder effect.
@en
prefLabel
Four common glomulin mutations ...... evidence for a founder effect.
@ast
Four common glomulin mutations ...... evidence for a founder effect.
@en
P2093
P356
P1476
Four common glomulin mutations ...... evidence for a founder effect.
@en
P2093
A Dompmartin
A Penington
F Boralevi
I K Temple
J B Mulliken
J I Harper
P356
10.1136/JMG.2004.024174
P407
P577
2005-02-01T00:00:00Z