About: SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters

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About: SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters Goto Sponge NotDistinct Permalink

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scientific journal article

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rdf:type	Item
description	artículu científicu espublizáu en 2016 (ast) vědecký článek publikovaný v roce 2016 (cs) 2016 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած (hyw) 2016 թվականի հոտեմբերին հրատարակված գիտական հոդված (hy) наукова стаття, опублікована в жовтні 2016 (uk) مقالة علمية (نشرت في نوفمبر 2016) (ar) im Oktober 2016 veröffentlichter wissenschaftlicher Artikel (de) wetenschappelijk artikel (gepubliceerd op 2016/11/01) (nl) vedecký článok (publikovaný 2016/11/01) (sk) scientific journal article (en)
publication date	wds:Q28118586-CAA1AC74-E515-4DA2-9B8C-DBD0BF25D453
publication date	2016-10-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q28118586-052868CD-6A5D-4181-BD60-E057EC9A20AC wds:Q28118586-13A32298-B590-47E6-83D2-89557DC19CF2 wds:Q28118586-203ED895-BAFE-46F5-89FA-EC0CE10EB388 wds:Q28118586-456711FC-2E2E-4D63-B4EF-F846C606822D wds:Q28118586-51A9B873-3B43-4844-8DB1-9DDF584C1916 wds:Q28118586-598B6302-E54C-460C-8ED0-FBE5D8AB55AC wds:Q28118586-5EFD3D5A-8FF2-4B82-A164-791A5FBFB23B wds:Q28118586-6A3D167F-23CF-460D-8A25-B2919F70C712 wds:Q28118586-8032C6F9-7B25-4D83-AD94-A51E56449183 wds:Q28118586-A8CECF04-EF35-4745-B60D-E35EBDCC09E6 wds:Q28118586-B849395B-DDC7-4CF8-B0F6-63F64E7FD628 wds:Q28118586-BED5E07A-7C5D-451F-851E-AF5005C9BDE9 wds:Q28118586-DA3A5773-0FB1-4A9C-8C94-90AD6B9DCD72 wds:Q28118586-E1FA4B46-1E84-4955-BA58-FAA93D5B8516 wds:Q28118586-FEA046FC-13C1-4845-BAEA-C910C0A2485A wds:Q28118586-FEA6B2FF-0095-43BB-9C3C-BEAC9AA70538 wds:Q28118586-FF3169CE-89B4-4D5B-9630-8CEBBFF8B71E
cites work	An efficient one-step site-directed and site-saturation mutagenesis protocol Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives Functional characteristics of the human ortholog of riboflavin transporter 2 and riboflavin-responsive expression of its rat ortholog in the small intestine indicate its involvement in riboflavin absorption. Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. Exome sequencing in Brown-Vialetto-van Laere syndrome Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells. Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience Conditional (intestinal-specific) knockout of the riboflavin transporter-3 (RFVT-3) impairs riboflavin absorption. Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. Ponto-bulbar palsy with deafness (Vialetto-Van Laere syndrome).
author name string	wds:Q28118586-1B841F98-FD57-4D9A-82FD-867B06BF4FD9 wds:Q28118586-6B9B7583-B5A6-40C5-8030-38F68DE60D1B wds:Q28118586-97894B78-42F7-4543-92DE-992BE7AAED3D wds:Q28118586-D99EBEC1-3B21-4892-9665-B95DB9B681B6 wds:Q28118586-E9C3DE5A-A154-4276-B69F-2CF73C15DF12 wds:Q28118586-FFD2F530-351D-4B69-97DD-7F79B9C974DB
author name string	Hamid M Said Veedamali S Subramanian Vykuntaraju K Gowda Trevor Teafatiller Tamilarasan Udhayabanu Varun S Raghavan
rdfs:label	SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters (en) SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters (nl) SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters (ast)
skos:prefLabel	SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters (en) SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters (nl) SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters (ast)
name	SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters (en) SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters (nl) SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters (ast)
author	wds:Q28118586-25164726-8D67-46A1-B8A3-45131F7F693F wds:Q28118586-97CD295B-F16F-4DC9-95B4-DD5C24B957F3
author	Perumal Varalakshmi Balasubramaniem Ashokkumar
title	wds:Q28118586-1D95F593-F95C-4CCE-BF3C-DB0C1E3B1DEE
title	SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters (en)
page(s)	wds:Q28118586-78EE92A8-1655-44F2-98FB-72E5F0E3E042
page(s)	210-214
instance of	wds:Q28118586-A84E6AA5-6D9B-41AD-84E4-8A587594C053
instance of	scholarly article
main subject	wds:Q28118586-1136541B-12F7-4525-9FBC-0111FE9F74F3 wds:Q28118586-1D54F7A4-77D0-4BFE-B6E4-1B382C55B3F5 wds:Q28118586-1FB004D7-30B6-4B4A-AA4C-0796A8163FEA wds:Q28118586-5248DC26-A170-4BB3-9DE6-23BF3C27EAF1 wds:Q28118586-89D06F5F-E631-4AED-ADC6-16E4A75949FA wds:Q28118586-D10ECCDA-0943-4144-BA6F-D07DE0EB63C7
main subject	Brown-Vialetto-Van Laere syndrome India wd:Q130365 Patients riboflavin transport Solute carrier family 52 member 2
PubMed ID	wds:Q28118586-8751A47A-2310-4DD6-9BB5-18EC29466BE5
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/27702554
PubMed ID	27702554
published in	wds:Q28118586-93B21E92-AD58-4830-8789-C600D93C802A
published in	Clinica Chimica Acta
volume	wds:Q28118586-9CABD72B-601A-4F16-B267-F53009038D31
volume	462
DOI	wds:Q28118586-9BB1061B-28F9-4352-8FB0-00B6081919C3
DOI	http://dx.doi.org/10.1016/J.CCA.2016.09.022
DOI	10.1016/J.CCA.2016.09.022

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