Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. - Wikidata - wikimedia - TriplyDB

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

http://www.wikidata.org/entity/Q37406418

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Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum Osteocyte-specific deletion of Fgfr1 suppresses FGF23 Melanoma in congenital melanocytic naevi.Therapeutic management of hypophosphatemic rickets from infancy to adulthood.Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.1,25-Dihydroxyvitamin D as Monotherapy for XLH: Back to the Future?Stability and degradation of fibroblast growth factor 23 (FGF23): the effect of time and temperature and assay type.Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment.Heritable and acquired disorders of phosphate metabolism: Etiologies involving FGF23 and current therapeutics.Tumour-induced osteomalacia.The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Somatic Mutations in NEK9 Cause Nevus Comedonicus.RAS in FGF23: another piece in the puzzle.Epidermal nevus syndromes: New insights into whorls and swirls.Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations: A case report and literature review.Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations: A case report and literature review.Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets.Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.[Genetic basis of seborrheic keratosis and epidermal nevi].Targeting Fibroblast Growth Factor 23 Signaling with Antibodies and Inhibitors, Is There a Rationale?

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P2860

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

http://www.wikidata.org/entity/Q37406418

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 04 September 2013

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

@cs

name

Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.

@en

Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.

@nl

type

label

Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.

@en

Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.

@nl

prefLabel

Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.

@en

Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.

@nl

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Human Molecular Genetics

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Multilineage somatic activatin ...... ed FGF23 and hypophosphatemia.

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Alison M Boyce

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Ann Maruri

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Cynthia J Tifft

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Cynthia M C Deklotz

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Edward W Cowen

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Erin C Loring

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Gretchen Golas

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Harald Jüppner

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Jeffrey S Sugarman

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John D Overton

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P2860

Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia

Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets

Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

Mechanism of activation of an N-ras gene in the human fibrosarcoma cell line HT1080

Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia

The Sequence Alignment/Map format and SAMtools

Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene

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397-407

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scholarly article

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10.1093/HMG/DDT429

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2

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23

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Diana Ovejero Crespo

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2013-09-04T00:00:00Z

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256449395

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24006476

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3869357

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