PMID: 6018508Mar 17, 1967Paper

Amino acid transport: evidence for genetic control of two types in human kidney

Science
C R Scriver, O H WILSON

Abstract

A mutation affecting renal transport of proline, hydroxyproline, and glycerine occurs in man. In the presumed homozygote there is still significant residual transport of these compounds; however, this remaining function is saturated at normal concentrations of substrate in the plasma and is not inhibited by L-proline in the expected way. The presumed heterozygote has partial loss of a transport system common to the three substrates, which becomes saturated at high concentrations of substrate and is inhibited by L-proline. Two different types of transport systems are proposed: a common system and systems with lower capacity and greater specificity. The two types of transport appear to be controlled by separate genes.

References

Nov 25, 1965·The Tohoku Journal of Experimental Medicine·K TadaA Minagawa
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Apr 19, 1966·Biochemical and Biophysical Research Communications·L SchwartzmanS Segal
Mar 17, 1967·Science·L E RosenbergS Segal
Jul 1, 1967·The American Journal of Physiology·O H Wilson, C R Scriver
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Nov 15, 1955·Proceedings of the National Academy of Sciences of the United States of America·R J BrittenE F French

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Citations

Jul 20, 1973·Humangenetik·B BlehováJ Jirásek
Jun 2, 1970·Biochimica Et Biophysica Acta·K M Nelson, J Lerner
Apr 25, 1968·The New England Journal of Medicine·D T Whelan, C R Scriver
Apr 25, 1968·The New England Journal of Medicine
Jun 27, 1968·The New England Journal of Medicine·L E RosenbergL J Elsas
Apr 1, 1969·The Journal of Obstetrics and Gynaecology of the British Commonwealth·M Young, M A Prenton
May 1, 1970·Acta paediatrica Scandinavica·J BrodehlW P Kaas
Jan 7, 2014·Annual Review of Genomics and Human Genetics·Leon E Rosenberg
Sep 14, 1971·Biochimica Et Biophysica Acta·S Mackenzie, C R Scriver
Sep 6, 1968·Biochemical and Biophysical Research Communications·F Mohyuddin, C R Scriver
Mar 1, 1970·The Journal of Pediatrics·F TancrediS Auricchio
Sep 1, 1971·The Journal of Pediatrics·P G Procopis, B Turner
Aug 1, 1967·The Journal of Pediatrics·S I GoodmanD O'Brien
Jan 16, 2008·Physiological Reviews·Stefan Bröer
Jan 1, 1974·Clinical Genetics·W L Daniel, T Tosi
Feb 1, 1974·Comparative Biochemistry and Physiology. A, Comparative Physiology·D S MillerJ Lerner
Mar 17, 1967·Science·L E RosenbergS Segal
Apr 6, 1973·Science·A Meister

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