Literature DB >> 6430166

The value of inherited deficiencies of human carbonic anhydrase isozymes in understanding their cellular roles.

R E Tashian, D Hewett-Emmett, S J Dodgson, R E Forster, W S Sly.   

Abstract

Very little light has been shed on the role of the low-activity CA I isozyme in humans by studies on CA I-deficient individuals. On the other hand, CA II-deficient individuals exhibit abnormalities of bone, kidney and brain, implicating a functional role for the high-activity CA II isozyme in cells from these tissues and organs. It also appears that the CA II-deficient red cell is capable of normal respiratory function under unstressed conditions. In addition, there is some preliminary evidence that those organs such as the eye which primarily contain the CA II isozyme, may be able to function effectively in the absence of CA II.

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Year:  1984        PMID： 6430166     DOI： 10.1111/j.1749-6632.1984.tb12346.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


  9 in total

1.  Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

Authors:  Melissa Lee; Briana Vecchio-Pagán; Neeraj Sharma; Abdul Waheed; Xiaopeng Li; Karen S Raraigh; Sarah Robbins; Sangwoo T Han; Arianna L Franca; Matthew J Pellicore; Taylor A Evans; Kristin M Arcara; Hien Nguyen; Shan Luan; Deborah Belchis; Jozef Hertecant; Joseph Zabner; William S Sly; Garry R Cutting
Journal:  Hum Mol Genet       Date:  2016-02-23       Impact factor: 6.150

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.  Autoimmune pancreatitis as a new clinical entity. Three cases of autoimmune pancreatitis with effective steroid therapy.

Authors:  T Ito; I Nakano; S Koyanagi; T Miyahara; Y Migita; K Ogoshi; H Sakai; S Matsunaga; O Yasuda; T Sumii; H Nawata
Journal:  Dig Dis Sci       Date:  1997-07       Impact factor: 3.199

4.  Expression of carbonic anhydrase II (CA II) promoter-reporter fusion genes in multiple tissues of transgenic mice does not replicate normal patterns of expression indicating complexity of CA II regulation in vivo.

Authors:  R P Erickson; J Grimes; P J Venta; R E Tashian
Journal:  Biochem Genet       Date:  1995-12       Impact factor: 1.890

5.  Carbonic anhydrase II deficiency in three unrelated Japanese patients.

Authors:  S Aramaki; I Yoshida; M Yoshino; M Kondo; Y Sato; K Noda; R Jo; A Okue; N Sai; F Yamashita
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  Localization of carbonic anhydrase IV in a specific capillary bed of the human eye.

Authors:  G S Hageman; X L Zhu; A Waheed; W S Sly
Journal:  Proc Natl Acad Sci U S A       Date:  1991-04-01       Impact factor: 11.205

7.  Molecular analysis of G+C-rich upstream sequences regulating transcription of the human carbonic anhydrase II gene.

Authors:  L H Shapiro; P J Venta; R E Tashian
Journal:  Mol Cell Biol       Date:  1987-12       Impact factor: 4.272

8.  N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.

Authors:  S E Lewis; R P Erickson; L B Barnett; P J Venta; R E Tashian
Journal:  Proc Natl Acad Sci U S A       Date:  1988-03       Impact factor: 11.205

Review 9.  Review of Diagnostic Biomarkers in Autoimmune Pancreatitis: Where Are We Now?

Authors:  Masataka Yokode; Masahiro Shiokawa; Yuzo Kodama
Journal:  Diagnostics (Basel)       Date:  2021-04-25
  9 in total

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