Literature DB >> 406674

Erythrocyte carbonic anhydrase I: inherited deficiency in humans.

A G Kendall, R E Tashian.   

Abstract

The virtually complete absence of erythrocyte carbonic anhydrase I is reported in three members of a family from the Greek island of Icaria. Two members with moderately reduced levels are believed to be heterozygous for the deficiency. There are no obvious hematological or renal consequences of the severe deficiency state.

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Year:  1977        PMID： 406674     DOI： 10.1126/science.406674

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


  13 in total

1.  Nucleotide sequence, tissue-specific expression, and chromosome location of human carbonic anhydrase III: the human CAIII gene is located on the same chromosome as the closely linked CAI and CAII genes.

Authors:  R Wade; P Gunning; R Eddy; T Shows; L Kedes
Journal:  Proc Natl Acad Sci U S A       Date:  1986-12       Impact factor: 11.205

2.  Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation.

Authors:  V Sundaram; P Rumbolo; J Grubb; P Strisciuglio; W S Sly
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

3.  Mutation creates an open reading frame within the 5' untranslated region of macaque erythrocyte carbonic anhydrase (CA) I mRNA that suppresses CA I expression and supports the scanning model for translation.

Authors:  N C Bergenhem; P J Venta; P J Hopkins; H J Kim; R E Tashian
Journal:  Proc Natl Acad Sci U S A       Date:  1992-09-15       Impact factor: 11.205

4.  Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8.

Authors:  P J Venta; T B Shows; P J Curtis; R E Tashian
Journal:  Proc Natl Acad Sci U S A       Date:  1983-07       Impact factor: 11.205

5.  A widespread silent polymorphism of human carbonic anhydrase III (31 Ile in equilibrium Val): implications for evolutionary genetics.

Authors:  D Hewett-Emmett; R J Welty; R E Tashian
Journal:  Genetics       Date:  1983-10       Impact factor: 4.562

6.  Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

Authors:  W S Sly; D Hewett-Emmett; M P Whyte; Y S Yu; R E Tashian
Journal:  Proc Natl Acad Sci U S A       Date:  1983-05       Impact factor: 11.205

7.  Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

Authors:  Carmen Diez-Fernandez; Véronique Rüfenacht; Saikat Santra; Allan M Lund; René Santer; Martin Lindner; Trine Tangeraas; Caroline Unsinn; Pascale de Lonlay; Alberto Burlina; Clara D M van Karnebeek; Johannes Häberle
Journal:  Genet Med       Date:  2016-02-25       Impact factor: 8.822

8.  Expression of a novel carbonic anhydrase, CA XIII, in normal and neoplastic colorectal mucosa.

Authors:  Laura Kummola; Jonna M Hämäläinen; Jyrki Kivelä; Antti J Kivelä; Juha Saarnio; Tuomo Karttunen; Seppo Parkkila
Journal:  BMC Cancer       Date:  2005-04-18       Impact factor: 4.430

9.  Oxygen-18 isotope of breath CO₂ linking to erythrocytes carbonic anhydrase activity: a biomarker for pre-diabetes and type 2 diabetes.

Authors:  Chiranjit Ghosh; Gourab D Banik; Abhijit Maity; Suman Som; Arpita Chakraborty; Chitra Selvan; Shibendu Ghosh; Subhankar Chowdhury; Manik Pradhan
Journal:  Sci Rep       Date:  2015-01-30       Impact factor: 4.379

10.  Targeting erythrocyte carbonic anhydrase and 18O-isotope of breath CO2 for sorting out type 1 and type 2 diabetes.

Authors:  Chiranjit Ghosh; Santanu Mandal; Gourab D Banik; Abhijit Maity; Prabuddha Mukhopadhyay; Shibendu Ghosh; Manik Pradhan
Journal:  Sci Rep       Date:  2016-10-21       Impact factor: 4.379
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