About: Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria
Creator	Schmidtke, Jörg Reis, · Arslan-Kirchner, Mine Arslan-Kirchner, · Brodehl, Johannes Brodehl, · Byrd, Dennis Byrd, · Dörk, Thilo Dörk, · Langen, H Langen, Hendrik Reis, André Saar, K Saar, Kathrin Schmidtke, J Stuhrmann, Manfred Stuhrmann, · Vester, Udo Vester, · Von Kietzell, D Von Kietzell, Dorothea
topic	covid:4317edfb5b8f9964f5e2b100be2bba7d2859f85d#this
Source	PMC
abstract	Cystinuria is an autosomal recessive disorder of the tubular and intestinal resorption of cystine, ornithine, lysine and arginine leading to nephrolithiasis. Three cystinuria types can be distinguished by the mode of inheritance (true recessive or intermediate) and by the pattern of the intestinal amino acid transport. In the present study phenotypes were assessed by the urinary excretion of amino acids related to creatinine, the percentage tubular amino acid reabsorption and the urinary excretion of polyamines as a possible indicator of the intestinal transport defect. However, our thorough phenotyping did not reveal more than two cystinuria types. Genotypes were examined in linkage analyses and single-strand conformation polymorphism-based mutation identification. The SLC3A1 mutations M467T and T216M were disease causing in our homozygous patients of type I cystinuria. We can show the association of type I cystinuria with SLC3A1 and of non-type I cystinuria with a yet unidentified gene on chromosome 19q13.1. Our phenotype and genotype analyses provide evidence for only two types of cystinuria in the investigated patient cohort.
has issue date	2000-01-01(xsd:dateTime)
bibo:doi	10.1007/s004670050778
bibo:pmid	10805464
has license	no-cc
sha1sum (hex)	4317edfb5b8f9964f5e2b100be2bba7d2859f85d
schema:url	https://doi.org/10.1007/s004670050778
resource representing a document's title	Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria
has PubMed Central identifier	PMC7102113
has PubMed identifier	10805464
schema:publication	Pediatr Nephrol
resource representing a document's body	covid:4317edfb5b8f9964f5e2b100be2bba7d2859f85d#body_text
is http://vocab.deri.ie/void#inDataset of	proxy:http/ns.inria.fr/covid19/4317edfb5b8f9964f5e2b100be2bba7d2859f85d
is schema:about of	named entity 'creatinine' named entity 'analyses' named entity 'investigated' named entity 'reabsorption' named entity 'polyamines' named entity 'excretion' named entity 'polyamine' named entity 'LEADING' named entity 'AUTOSOMAL RECESSIVE DISORDER' named entity 'MORE THAN' named entity 'AMINO ACIDS' named entity 'TYPES' named entity 'NON-' named entity 'GENOTYPE' named entity 'INTESTINAL' named entity 'PERCENTAGE' named entity 'GENE' named entity 'amino acids' named entity 'nephrolithiasis' named entity 'types' named entity 'cystinuria' named entity 'inheritance' named entity 'Cystinuria' named entity 'excretion' named entity 'ornithine' named entity 'study' named entity 'Three' named entity 'mutations' named entity 'indicator' named entity 'autosomal recessive' named entity 'patient' named entity 'intermediate' named entity 'phenotypes' named entity 'molecular genetics' named entity 'Genotypes' named entity 'phenotypes' named entity 'lysine' named entity 'recessive' named entity 'amino acids' named entity 'ornithine' named entity 'polyamines' named entity 'SLC3A1' named entity 'excretion' named entity 'polyamine' named entity 'molecular genetics' named entity 'provide' named entity 'amino acids' named entity 'heterozygotes' named entity 'type II' named entity 'fluorescence' named entity 'heterozygotes' named entity 'gradient' named entity 'lumen' named entity 'amino acids' named entity 'excretion' named entity 'genetic analysis' named entity 'excretion' named entity 'probands'

Faceted Search & Find service v1.13.91 as of Mar 24 2020

Alternative Linked Data Documents: Sponger | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3229 as of Jul 10 2020, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (94 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software