Literature DB >> 6038997

Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis.

J A Schneider, K Bradley, J E Seegmiller.   

Abstract

In patients with cystinosis, the concentration of free cystine in leukocytes was 80 times greater than normal, and six times the normal content for their parents. This is the first demonstration of an abnormality in heterozygotes for this rare inherited disease of childhood. Three-quarters of the cystine was recovered in the granular fraction of cystinotic leukocytes.

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Year:  1967        PMID： 6038997     DOI： 10.1126/science.157.3794.1321

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  36 in total

Review 1.  Cystine depletion of cystinotic cells by aminothiols.

Authors:  J G Thoene; R G Oshima; J C Crawhall; J A Schneider
Journal:  Proc R Soc Med       Date:  1977

2.  Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading.

Authors:  C Coor; R F Salmon; R Quigley; D Marver; M Baum
Journal:  J Clin Invest       Date:  1991-03       Impact factor: 14.808

3.  Lysosomal cystine accumulation promotes mitochondrial depolarization and induction of redox-sensitive genes in human kidney proximal tubular cells.

Authors:  Rodolfo Sumayao; Bernadette McEvoy; Philip Newsholme; Tara McMorrow
Journal:  J Physiol       Date:  2016-04-10       Impact factor: 5.182

4.  Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13.

Authors:  U Peters; G Senger; M Rählmann; I Du Chesne; I Stec; M R Köhler; J Weissenbach; S M Leal; H G Koch; T Deufel; E Harms
Journal:  Eur J Hum Genet       Date:  1997 Jan-Feb       Impact factor: 4.246

Review 5.  New aspects of the pathogenesis of cystinosis.

Authors:  Vasiliki Kalatzis; Corinne Antignac
Journal:  Pediatr Nephrol       Date:  2003-02-27       Impact factor: 3.714

Review 6.  Lysosome dysfunction in the pathogenesis of kidney diseases.

Authors:  Kameswaran Surendran; Seasson P Vitiello; David A Pearce
Journal:  Pediatr Nephrol       Date:  2013-11-12       Impact factor: 3.714

7.  Cystine accumulation and clearance by normal and cystinotic leukocytes exposed to cystine dimethyl ester.

Authors:  R Steinherz; F Tietze; W A Gahl; T J Triche; H Chiang; A Modesti; J D Schulman
Journal:  Proc Natl Acad Sci U S A       Date:  1982-07       Impact factor: 11.205

8.  An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes.

Authors:  L A Smolin; K F Clark; J A Schneider
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025

9.  High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.

Authors:  G Jean; A Fuchshuber; M M Town; O Gribouval; J A Schneider; M Broyer; W van't Hoff; P Niaudet; C Antignac
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

10.  Intracellular cystine loading inhibits transport in the rabbit proximal convoluted tubule.

Authors:  R F Salmon; M Baum
Journal:  J Clin Invest       Date:  1990-02       Impact factor: 14.808
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