Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1983-6-10
pubmed:abstractText
The clinical, radiological, and pathological findings in three siblings affected with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification have been reported. In an effort to explain the pleiotropic effects of the mutation producing this disorder, we postulated a defect in carbonic anhydrase II (CA II), the only one of the three soluble isozymes of carbonic anhydrase that is known to be synthesized in kidney and brain. We report here biochemical and immunological evidence for the virtual absence of CA II in erythrocytes of patients affected with this condition, whereas CA I level is not reduced. Levels of CA II in erythrocyte hemolysates from asymptomatic obligate heterozygotes are about half of normal. These findings: (i) elucidate the basic defect in one form of inherited osteopetrosis; (ii) provide genetic evidence implicating CA II in osteoclast function and bone resorption; (iii) explain previous observations that carbonic anhydrase inhibitors block the normal parathyroid hormone-induced release of calcium from bone; (iv) clarify the role of renal CA II in urinary acidification and bicarbonate reabsorption; and (v) suggest a method to identify heterozygous carriers for the gene for this recessively inherited syndrome.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-13724906, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-184830, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-232356, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-31766, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-37362, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-406674, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-4202671, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-4203024, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-4219722, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-4320594, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-462288, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-4661410, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-4871758, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-4964060, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-5033181, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-5041390, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-5072797, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6248817, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6257524, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6272648, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6769342, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6778076, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6778870, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6781364, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6791766, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6791963, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6811592, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6811858, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6812435, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6813372, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-6814190, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-7072615, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-7213743, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-7264948, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-7312081, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-7358236, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-7365692, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-7386510, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-806235, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-813299, http://linkedlifedata.com/resource/pubmed/commentcorrection/6405388-99456
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0027-8424
pubmed:author
pubmed:issnType
Print
pubmed:volume
80
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2752-6
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.