Osteopetrosis with renal tubular acidosis

03/01/2004 - "Although transgene expression was reportedly modest using cationic liposomes, this method improved renal disease models such as carbonic anhydrase II deficiency and unilateral ureteral obstruction. "

01/15/2020 - "The carriers of point mutations in the human carbonic anhydrase II (HCAII) gene have been recognized to display carbonic anhydrase II deficiency syndrome (CADS). "
08/01/2015 - "The carbonic anhydrase II (CAII) deficiency syndrome is a rare autosomal recessive osteopetrosis with renal tubular acidosis (RTA) and cerebral calcifications (MIM259730). "
06/16/2009 - "Small-molecule suppression of misfolding of mutated human carbonic anhydrase II linked to marble brain disease."
02/05/2008 - "Mutant mapping of position 107 in human carbonic anhydrase II linked to marble brain disease."
09/10/2004 - "The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene. "

02/01/1986 - "Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation."
10/01/1985 - "We recently identified a deficiency of this enzyme as the basis for the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. "
03/01/1992 - "We suggest that residual activity of the His-107----Tyr mutant enzyme may explain the absence of mental retardation and the relatively mild phenotype of carbonic anhydrase II deficiency in affected members of this family."
01/01/2023 - "Carbonic anhydrase II deficiency (OMIM # 259730), initially called "osteopetrosis with renal tubular acidosis and cerebral calcification syndrome", reveals an important role for the enzyme carbonic anhydrase II (CA II) in osteoclast and renal tubule function. "

10/01/1985 - "Positive renal response to intravenous acetazolamide in patients with carbonic anhydrase II deficiency."
04/15/1985 - "Failure of acetazolamide to decrease intraocular pressure in patients with carbonic anhydrase II deficiency."
06/01/2000 - "In the Guibaud-Vainsel syndrome (renal-tubular acidosis with osteopetrosis) the renal disturbances are comparable to the effects of a therapy with acetazolamide. "
04/15/1985 - "The effect of the carbonic anhydrase inhibitor acetazolamide on intraocular pressure was studied in two patients with carbonic anhydrase II deficiency and in six control subjects. "

01/01/2021 - "A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family."
01/01/1995 - "Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X)."
01/01/2021 - "We found a new homozygous nonsense mutation in CA2 gene (c.368G > A, p.W123X), which may be valuable in the early diagnosis and therapy of carbonic anhydrase II deficiency syndrome."

08/01/1988 - "Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase-II deficiency)."
09/01/1993 - "Carbonic anhydrase (CA) isoenzyme II deficiency--formerly called the syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification--is an autosomal recessive "inborn error of metabolism" that has disclosed important insight concerning osteoclast function. "

01/01/1998 - "In mice with carbonic anhydrase II deficiency (CAD), a model of moderate CMA with food intake close to normal, we studied serum levels of GH, IGFs, and IGF-binding proteins, and the growth response to rGH. "

09/01/2000 - "Long-term administration of recombinant growth hormone (GH) increases growth, despite persistent acidosis, in mice with carbonic anhydrase II deficiency (CAD). "

09/07/2004 - "Full liquid chromatography-tandem MS analysis revealed 295 proteins, including multiple protein products of genes already known to be responsible for renal and systemic diseases, including autosomal dominant polycystic kidney disease, Gitelman syndrome, Bartter syndrome, autosomal recessive syndrome of osteopetrosis with renal tubular acidosis, and familial renal hypomagnesemia. "

11/04/2019 - "Mechanism of Action of Non-Synonymous Single Nucleotide Variations Associated with α-Carbonic Anhydrase II Deficiency."

02/01/2006 - "[Carbonic anhydrase II deficiency and Fanconi syndrome: Pathogenesis, pathophysiology, and therapy]."
01/01/2021 - "We found a new homozygous nonsense mutation in CA2 gene (c.368G > A, p.W123X), which may be valuable in the early diagnosis and therapy of carbonic anhydrase II deficiency syndrome."
06/01/2000 - "In the Guibaud-Vainsel syndrome (renal-tubular acidosis with osteopetrosis) the renal disturbances are comparable to the effects of a therapy with acetazolamide. "

04/01/2001 - "Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome."
02/01/1994 - "Bone marrow transplantation demonstrates that carbonic anhydrase II deficiency limited to bone marrow-derived cells affects ammonium chloride tolerance in mice."