Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
about
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress responseWNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndromeWnt modulators in the biotech pipelineWnt/beta-catenin signaling: components, mechanisms, and diseasesmicroRNA regulation of Wnt signaling pathways in development and diseaseIdentification of key residues and regions important for porcupine-mediated Wnt acylationWnt proteins.Gene-disease relationship discovery based on model-driven data integration and database view definitionA non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.The aquaglyceroporin AQP9 contributes to the sex-specific effects of in utero arsenic exposure on placental gene expression.Wnts' fashion statement: from body stature to dysplasia.Phenotypic annotation of the mouse X chromosomeNew syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.Differential palmit(e)oylation of Wnt1 on C93 and S224 residues has overlapping and distinct consequences.Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome)PORCN moonlights in a Wnt-independent pathway that regulates cancer cell proliferationRole of canonical Wnt signaling/ß-catenin via Dermo1 in cranial dermal cell development.Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlapThe genetics of human skin disease.Updating the Wnt pathways.Malformation syndromes caused by disorders of cholesterol synthesis.Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.Goltz syndrome: report of two severe casesPathogenesis of vascular anomalies.Goltz syndrome and PORCN mosaicism.Wnts produced by Osterix-expressing osteolineage cells regulate their proliferation and differentiation.Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesisMutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.Zygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia.A Wnt survival guide: from flies to human disease.A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cellsDistinct requirements for cranial ectoderm and mesenchyme-derived wnts in specification and differentiation of osteoblast and dermal progenitors.Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndromeA Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.Dermal β-catenin activity in response to epidermal Wnt ligands is required for fibroblast proliferation and hair follicle initiation.Precise regulation of porcupine activity is required for physiological Wnt signaling.A case of male goltz syndrome.Dysfunction of Wntless triggers the retrograde Golgi-to-ER transport of Wingless and induces ER stress.Focal Dermal Hypoplasia or Goltz Syndrome: A Rare Association with Keratoconus.X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome
P2860
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P2860
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.
@en
Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.
@nl
type
label
Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.
@en
Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.
@nl
prefLabel
Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.
@en
Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.
@nl
P2093
P2860
P356
P1433
P1476
Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.
@en
P2093
Arne König
Barbara Fritz
Christian Schuchardt
Dorothea Bornholdt
Frank Oeffner
Gianluca Tadini
Heiko Traupe
Herbert Enders
Karl-Heinz Grzeschik
Katja Höfling
P2860
P2888
P304
P356
10.1038/NG2052
P407
P50
P577
2007-06-03T00:00:00Z