Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters - Wikidata - awgldk - TriplyDB

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

http://www.wikidata.org/entity/Q24317890

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SLC36A4 (hPAT4) is a high affinity amino acid transporter when expressed in Xenopus laevis oocytes Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters Amino acid derivatives are substrates or non-transported inhibitors of the amino acid transporter PAT2 (slc36a2)Evolutionary signatures amongst disease genes permit novel methods for gene prioritization and construction of informative gene-based networks The Concise Guide to PHARMACOLOGY 2013/14: transporters.Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study A genome-wide association study of metabolic traits in human urine.A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease Localising loci underlying complex trait variation using Regional Genomic Relationship Mapping.Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20).Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse.The SLC36 family of proton-coupled amino acid transporters and their potential role in drug transport Molecular basis for the interaction of the mammalian amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality.The solute carrier 6 family of transporters Digenic inheritance in medical genetics Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Mutation of asparagine 76 in the center of glutamine transporter SNAT3 modulates substrate-induced conductances and Na+ binding.Intracellular amino acid sensing and mTORC1-regulated growth: new ways to block an old target?Transport of amino acids in the kidney.Transport of L-proline by the proton-coupled amino acid transporter PAT2 in differentiated 3T3-L1 cells.Identification of a disulfide bridge essential for transport function of the human proton-coupled amino acid transporter hPAT1.Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria.Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria Defective SLC6A19 causes Hartnup disorder (HND)Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma.SLC6 Transporter Folding Diseases and Pharmacochaperoning.Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors.Up-regulation of amino acid transporter SLC6A19 activity and surface protein abundance by PKB/Akt and PIKfyve.Resculpting the binding pocket of APC superfamily LeuT-fold amino acid transporters.Defective SLC36A2 does not cotransport Gly; L-Pro with H+ from extracellular region to cytosol Defective SLC6A18 does not transport Gly from extracellular region to cytosol Variant SLC6A20 does not cotransport L-Pro; Na+ from extracellulare region to cytosol Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria_R-HSA-5619102 Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_R-HSA-5619102

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Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

http://www.wikidata.org/entity/Q24317890

description

2008 nî lūn-bûn

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2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

Iminoglycinuria and hyperglyci ...... oline and glycine transporters

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Iminoglycinuria and hyperglyci ...... oline and glycine transporters

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Iminoglycinuria and hyperglyci ...... oline and glycine transporters

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Iminoglycinuria and hyperglyci ...... oline and glycine transporters

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type

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Iminoglycinuria and hyperglyci ...... oline and glycine transporters

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Iminoglycinuria and hyperglyci ...... oline and glycine transporters

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Iminoglycinuria and hyperglyci ...... oline and glycine transporters

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Iminoglycinuria and hyperglyci ...... oline and glycine transporters

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prefLabel

Iminoglycinuria and hyperglyci ...... oline and glycine transporters

@ast

Iminoglycinuria and hyperglyci ...... oline and glycine transporters

@en

Iminoglycinuria and hyperglyci ...... oline and glycine transporters

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Iminoglycinuria and hyperglyci ...... oline and glycine transporters

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P1433

Journal of Clinical Investigation

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Iminoglycinuria and hyperglyci ...... oline and glycine transporters

@en

P2093

Angelika Bröer

http://www.w3.org/2001/XMLSchema#string

Christiane Auray-Blais

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Cynthia Ng

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Helen Rodgers

http://www.w3.org/2001/XMLSchema#string

Jessica M Vanslambrouck

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John E J Rasko

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Juleen A Cavanaugh

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Sonja Kowalczuk

http://www.w3.org/2001/XMLSchema#string

Stefan Bröer

http://www.w3.org/2001/XMLSchema#string

P2860

Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino

Molecular cloning of the mouse IMINO system: an Na+- and Cl--dependent proline transporter

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

The SLC36 family: proton-coupled transporters for the absorption of selected amino acids from extracellular and intracellular proteolysis

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19

Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies

Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms

Hypertension and impaired glycine handling in mice lacking the orphan transporter XT2

Urine screening for aminoacidopathies: Is it beneficial?

P304

3881-3892

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scholarly article

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10.1172/JCI36625

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P407

P433

12

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P478

118

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Charles G. Bailey

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2008-11-06T00:00:00Z

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19033659

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Solute carrier family 6 member 20

Solute carrier family 36 member 2

proline transport

P932

2579706

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