About: Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome

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scientific article published on 16 August 2013

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в серпні 2013 (uk) im August 2013 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 16 August 2013 (en) artículu científicu espublizáu n'agostu de 2013 (ast)
publication date	wds:Q57915585-B55895C7-ABFF-49A5-A985-40DA3F4488B3
publication date	2013-08-16 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57915585-4B5F54C1-AABE-448E-ABF7-18A850A65730
language of work or name	English
cites work	wds:Q57915585-0346BA35-8DBA-4BC5-A17A-E493EADB5A6F wds:Q57915585-0C543155-8CD6-4EF2-BCFB-33EB3C793B7B wds:Q57915585-1311D76F-2912-4F2B-9D7F-31F4BEDF7B4A wds:Q57915585-17F7C3F9-B28A-4EEF-B8C9-AD12F123A1B8 wds:Q57915585-22CDF8AD-E249-479B-8FE9-B9AD9DB03ACF wds:Q57915585-29880F49-8554-4D72-838D-1C0111E4C74D wds:Q57915585-43696450-E6BA-449B-A547-76D60B3679C4 wds:Q57915585-45978CDA-13D0-4F2B-94C4-651883D0BC46 wds:Q57915585-701FCE4C-EB4C-4752-AD63-99AB59114B4F wds:Q57915585-77BB9A5F-FF3E-456D-A9BF-EADDD0BB9141 wds:Q57915585-89C5D0F5-4C4E-47DA-A84B-192D1F18239A wds:Q57915585-920D6048-CB25-4FDE-8685-ED2BC71960B5 wds:Q57915585-B1A8BAE3-70BF-46D7-96F3-B32C28FC027C wds:Q57915585-E27A112A-641F-4F19-AF89-6B2A8B5DE05D wds:Q57915585-E8FC5653-0813-4F11-B2A8-B31AAA7CB16E wds:Q57915585-FC2C3058-E80D-47D6-BDE0-D5343836F619
cites work	Secreted kinase phosphorylates extracellular proteins that regulate biomineralization Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia Osteosclerotic bone dysplasia in siblings with a Fam20C mutation Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation New distinct lethal osteosclerotic bone dysplasia (Raine syndrome) A new lethal sclerosing bone dysplasia Osteopetrosis: brain ultrasound and computed tomography findings Further delineation of Raine syndrome. Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent. Intracranial calcification in Raine syndrome: radiological pathological correlation. Raine syndrome: expanding the radiological spectrum
author name string	wds:Q57915585-75AC7E23-7462-4790-918E-A65111794D64 wds:Q57915585-8AFE6328-6753-4CD9-A364-45091E779C27 wds:Q57915585-8D93030D-9862-4574-9888-3E07C0285EFA wds:Q57915585-9F0879CA-6CC0-4E6F-A96C-DEA644861156 wds:Q57915585-C270C714-3C0D-4A7C-B82F-E815587B3224
author name string	Talaat Youssef Andrew Crosby Abdulrahman AlSwaid Farouq K Ababneh Manaf Al Azzawi
rdfs:label	Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome (en) Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome (nl)
skos:prefLabel	Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome (en) Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome (nl)
name	Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome (en) Hereditary deletion of the entireFAM20Cgene in a patient with Raine syndrome (nl)
author	wds:Q57915585-218A0B3B-F8FE-47BE-AC8A-C9B0C9BC0501
author	Mohammed Al Balwi
title	wds:Q57915585-A45E00B4-739A-49FC-979E-B3314D020189
title	Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome (en)
page(s)	wds:Q57915585-8C38C365-D808-4468-8EB3-20C655EEF0DD
page(s)	3155-3160
instance of	wds:Q57915585-6ABC6C72-35DA-4776-B703-DD80F5E06DA2
instance of	scholarly article
main subject	wds:Q57915585-24F97C2E-BCBD-4171-A5F8-588EC6C1F576 wds:Q57915585-9F047D38-65A1-4DFB-8186-13CF30BB23CD
main subject	Patients Raine syndrome
PubMed ID	wds:Q57915585-D9240CA0-DFEE-41BD-B93D-B09A78FE126C
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/24039075
PubMed ID	24039075
published in	wds:Q57915585-A73367FD-3D98-408B-8CEF-C92EB099DDFE
published in	American Journal of Medical Genetics
issue	wds:Q57915585-933D08BC-81FE-4597-BD2E-5EBE8D08BD7E
volume	wds:Q57915585-1A0F91DA-0D1D-4FA3-BEF0-4AB82649050E
issue	12
volume	161A
DOI	wds:Q57915585-E6835C15-7DD8-4F43-8194-1E80602F411A
DOI	http://dx.doi.org/10.1002/AJMG.A.36160
DOI	10.1002/AJMG.A.36160
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57915585
is cites work of	Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations Systemic Control of Bone Homeostasis by FGF23 Signaling Conditional Deletion of Murine Fgf23: Interruption of the Normal Skeletal Responses to Phosphate Challenge and Rescue of Genetic Hypophosphatemia Sclerosing bone dysplasias: leads toward novel osteoporosis treatments Report of a case of Raine syndrome and literature review. Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660). Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice. Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor) A case of Raine syndrome presenting with facial dysmorphy and review of literature. Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review Two Novel FAM20C Variants in A Family with Raine Syndrome
is cites work of	wds:Q41832467-DEDFD953-A8AD-46FA-BF37-FF6FCB3D8DE5 wds:Q52943443-A24F5DB6-C698-47AB-8BE2-3D87021E0E46

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