Human carbonic anhydrases and carbonic anhydrase deficiencies.

WS Sly, PY Hu - Annual review of biochemistry, 1995 - europepmc.org
Carbonic anhydrases (CAs I-VII) are products of a gene family that encodes seven isozymes
and several homologous, CA-related proteins. All seven isozymes have been cloned …

Physiology and molecular biology of renal carbonic anhydrase.

GJ Schwartz - Journal of nephrology, 2002 - europepmc.org
Carbonic anhydrase (CA) is an important enzyme in the kidney and facilitates renal
acidification by catalvzing the reversible hydration of CO2 and the dehydration of …

Localization and activity of renal carbonic anhydrase (CA) in CA-II deficient mice

WF Brechue, E Kinne-Saffran, RKH Kinne… - Biochimica et Biophysica …, 1991 - Elsevier
A null allele at the mouse Car 2 locus was induced by ethylnitrosurea; mice homozygous for
the new allele lack the carbonic anhydrase (CA)-II isoenzyme. The expression of this genetic …

Carbonic anhydrase II mRNA expression in individual osteoclasts under “resorbing” and “nonresorbing” conditions

S Asotra, AK Gupta, J Sodek, JE Aubin… - Journal of Bone and …, 1994 - Wiley Online Library
Rabbit osteoclasts can be transformed from a nonresorbing state to a resorbing state by
transferring them from culture medium at pH 7.5 to one at pH 6.5. We evaluated whether …

OSTEOPETROSIS: Case Report, Autopsy Findings, and Pathological Interpretation: Failure of Treatment with Vitamin A

J CoHEN - JBJS, 1951 - journals.lww.com
EK, a girl aged thirty-two months at the tune of decease, was observed at The Children's.
flospital for the last t% Velity months of her life. The family history was negative for …

Human carbonic anhydrases: tissue distribution, physiological role, and druggability

A Nocentini, WA Donald, CT Supuran - Carbonic anhydrases, 2019 - Elsevier
Fifteen different carbonic anhydrase (CA) isoforms have been identified and characterized in
human (h) so far, of which 12 are catalytically active and 3 lack activity (CA-related proteins) …

Carbonic anhydrase II and IV mRNA in rabbit nephron segments: stimulation during metabolic acidosis

S Tsuruoka, AM Kittelberger… - American Journal of …, 1998 - journals.physiology.org
Carbonic anhydrase (CA) facilitates renal bicarbonate reabsorption and acid excretion.
Cytosolic CA II catalyzes the buffering of intracellular hydroxyl ions by CO2, whereas …

A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent

DM Fathallah, M Bejaoui, WS Sly, R Lakhoua… - Human genetics, 1994 - Springer
We have investigated, in the genomic DNA of ten Tunisian patients, the presence of a splice
junction mutation at the 5′ end of intron 2 in the carbonic anhydrase II gene (CAII) …

Cloning, expression, and sequence homologies of cDNA for human carbonic anhydrase II

H Murakami, GP Marelich, JH Grubb, JW Kyle, WS Sly - Genomics, 1987 - Elsevier
A cDNA clone for human carbonic anhydrase (CA) II was isolated from a kidney λgt10
library. Expression of the cDNA insert in Cos-7 cells produced an immunoprecipitable …

Creatine kinase brain isoenzyme (BB‐CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders

MP Whyte, A Chines, DP Silva Jr… - Journal of Bone and …, 1996 - academic.oup.com
Creatine kinase (CK) isoenzyme BB‐CK is predominantly found in brain and is not normally
detected in the blood. A few recent reports, however, have described BB‐CK in serum from …