Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification - Wikidata - awgldk - TriplyDB

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

http://www.wikidata.org/entity/Q28307228

about

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients Molecular basis of human carbonic anhydrase II deficiency Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-A resolution Molecular mechanisms and regulation of urinary acidification Protein trafficking defects in inherited kidney diseases Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton Expression of the membrane-associated carbonic anhydrase isozyme XII in the human kidney and renal tumors Carbonic anhydrase II binds to and enhances activity of the Na+/H+ exchanger Proximal nephron Human malignant osteopetrosis: Pathophysiology, management and the role of bone marrow transplantation Histology-directed and imaging mass spectrometry: An emerging technology in ectopic calcification.Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel.Amylase alpha-2A autoantibodies: novel marker of autoimmune pancreatitis and fulminant type 1 diabetes Studying Enzymes by In Vivo C Magnetic Resonance Spectroscopy N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.NBCe1 as a model carrier for understanding the structure-function properties of Na⁺ -coupled SLC4 transporters in health and disease.A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification.Proximal renal tubular acidosis in TASK2 K+ channel-deficient mice reveals a mechanism for stabilizing bicarbonate transport Acetazolamide in the treatment of seizures.Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines.Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation.Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21 Differentiation of autoimmune pancreatitis from pancreas cancer: utility of anti-amylase and anti-carbonic anhydrase II autoantibodies Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.Carbonic anhydrases in normal gastrointestinal tract and gastrointestinal tumours.Osteopetrosis in Src-deficient mice is due to an autonomous defect of osteoclasts.Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.Proximal renal tubular acidosis mediated by mutations in NBCe1-A: unraveling the transporter's structure-functional properties.Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).Sclerosing bone disorders: a lot of knowns but still some unknowns.Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders.Human chromosome 8.Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.Carbonic Anhydrase II Deficiency in a Saudi Woman.Carbonic anhydrase II is induced in HL-60 cells by 1,25-dihydroxyvitamin D3: a model for osteoclast gene regulation.Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

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P2860

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

http://www.wikidata.org/entity/Q28307228

description

1985 nî lūn-bûn

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1985 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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1985 թվականի հուլիսին հրատարակված գիտական հոդված

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1985年の論文

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1985年論文

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1985年論文

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1985年論文

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1985年論文

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1985年論文

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1985年论文

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Carbonic anhydrase II deficien ...... sis and cerebral calcification

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Carbonic anhydrase II deficien ...... sis and cerebral calcification

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Carbonic anhydrase II deficien ...... sis and cerebral calcification

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Carbonic anhydrase II deficien ...... sis and cerebral calcification

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Carbonic anhydrase II deficien ...... sis and cerebral calcification

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Carbonic anhydrase II deficien ...... sis and cerebral calcification

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Carbonic anhydrase II deficien ...... sis and cerebral calcification

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Carbonic anhydrase II deficien ...... sis and cerebral calcification

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Carbonic anhydrase II deficien ...... sis and cerebral calcification

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NEJM198507183130302

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The New England Journal of Medicine

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Carbonic anhydrase II deficien ...... sis and cerebral calcification

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A Gruskin

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D Hewett-Emmett

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H J Baluarte

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R E Tashian

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