Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. - Wikidata - wikimedia - TriplyDB

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

http://www.wikidata.org/entity/Q51984223

about

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome Wnt modulators in the biotech pipeline Wnt/beta-catenin signaling: components, mechanisms, and diseases microRNA regulation of Wnt signaling pathways in development and disease Identification of key residues and regions important for porcupine-mediated Wnt acylation Wnt proteins.Gene-disease relationship discovery based on model-driven data integration and database view definition A 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 chromosome New 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 proliferation Role 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 overlap The 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 cases Pathogenesis 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 morphogenesis Mutations 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 cells Distinct 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 syndrome A 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

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Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

http://www.wikidata.org/entity/Q51984223

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Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.

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Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.

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Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.

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Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.

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Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.

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Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.

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Nature Genetics

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Deficiency of PORCN, a regulat ...... with focal dermal hypoplasia.

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Arne König

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Barbara Fritz

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Christian Schuchardt

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Dorothea Bornholdt

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Frank Oeffner

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Gianluca Tadini

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Heiko Traupe

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Herbert Enders

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Karl-Heinz Grzeschik

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Katja Höfling

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Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.

Wnt/beta-catenin signaling in development and disease

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family

Wnt signaling: multiple pathways, multiple receptors, and multiple transcription factors

Wnt proteins are lipid-modified and can act as stem cell growth factors

WNT and beta-catenin signalling: diseases and therapies

Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine.

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.

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