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1977 1
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1992 1
1997 1
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2008 2
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2023 2
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Page 1
Alterations in the Plasma Protein Expression Pattern in Congenital Analbuminemia-A Systematic Review.
Foster BM, Abdollahi A, Henderson GC. Foster BM, et al. Biomolecules. 2023 Feb 22;13(3):407. doi: 10.3390/biom13030407. Biomolecules. 2023. PMID: 36979342 Free PMC article. Review.
Albumin is a highly abundant plasma protein with multiple functions, including the balance of fluid between body compartments and fatty acid trafficking. Humans with congenital analbuminemia (CAA) do not express albumin due to homozygosity for albumin gene mutation. ...The …
Albumin is a highly abundant plasma protein with multiple functions, including the balance of fluid between body compartments and fatty acid …
A Humanized Mouse Model to Study Human Albumin and Albumin Conjugates Pharmacokinetics.
Low BE, Wiles MV. Low BE, et al. Methods Mol Biol. 2016;1438:115-22. doi: 10.1007/978-1-4939-3661-8_7. Methods Mol Biol. 2016. PMID: 27150087 Review.
Published data clearly demonstrate that upon injection of human albumin into this model animal that it accurately recapitulates human albumin FcRn dependent serum recycling, with human albumin now having a half-life ~24 days, closely mimicking that observed in humans. In t …
Published data clearly demonstrate that upon injection of human albumin into this model animal that it accurately recapitulates human albumi …
Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis.
Amri Y, Aboulkacem S, Dabboubi R, Ayoub M, Lamine O, Othmani M, Aouni Z, Messaoud T, Mazigh C. Amri Y, et al. Ann Biol Clin (Paris). 2023 May 16;81(2):204-209. doi: 10.1684/abc.2023.1806. Ann Biol Clin (Paris). 2023. PMID: 37184254
Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. ...Mutational screening disclosed two novel compound heterozygous nucleotide variations located in intron 12 and in 3'UTR. …
Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of hum …
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family.
Caridi G, Gulec EY, Campagnoli M, Lugani F, Onal H, Kilic D, Galliano M, Minchiotti L. Caridi G, et al. Biochem Med (Zagreb). 2016;26(2):264-71. doi: 10.11613/BM.2016.031. Biochem Med (Zagreb). 2016. PMID: 27346974 Free PMC article.
Congenital analbuminemia is an autosomal recessive disorder, in which albumin, the major blood protein, is present only in a minute amount. ...In our continuing study of the molecular genetics of congenital analbuminemia, we report here the clinical and biochemical …
Congenital analbuminemia is an autosomal recessive disorder, in which albumin, the major blood protein, is present only in a minute a …
Lipoprotein kinetics in patients with analbuminemia. Evidence for the role of serum albumin in controlling lipoprotein metabolism.
Maugeais C, Braschi S, Ouguerram K, Maugeais P, Mahot P, Jacotot B, Darmaun D, Magot T, Krempf M. Maugeais C, et al. Arterioscler Thromb Vasc Biol. 1997 Jul;17(7):1369-75. doi: 10.1161/01.atv.17.7.1369. Arterioscler Thromb Vasc Biol. 1997. PMID: 9261269
We studied the kinetic aspects of apoB- and apoAI-containing lipoprotein metabolism in two sisters with analbuminemia using a constant 14-hour infusion of leucine labeled with stable isotopes. ...The fractional catabolic rate of all the apoB-containing lipoproteins was dec …
We studied the kinetic aspects of apoB- and apoAI-containing lipoprotein metabolism in two sisters with analbuminemia using a constan …
Analbuminemia produced by a novel splicing mutation.
Dolcini L, Caridi G, Dagnino M, Sala A, Gökçe S, Sökücü S, Campagnoli M, Galliano M, Minchiotti L. Dolcini L, et al. Clin Chem. 2007 Aug;53(8):1549-52. doi: 10.1373/clinchem.2007.089748. Clin Chem. 2007. PMID: 17644793
Analbuminemia is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating human serum albumin in homozygous or compound heterozygous individuals. ...The subsequent frameshift within exon 12 originates a premature stop codon located 5 …
Analbuminemia is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating human serum albumin …
Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.
Minchiotti L, Galliano M, Kragh-Hansen U, Peters T Jr. Minchiotti L, et al. Hum Mutat. 2008 Aug;29(8):1007-16. doi: 10.1002/humu.20754. Hum Mutat. 2008. PMID: 18459107
Physiological and structural effects of these mutations are included where observed. Most of the changes are benign. The majority of them were detected upon clinical electrophoretic studies, as a result of a point mutation of a charged amino acid residue. ...A total of nin …
Physiological and structural effects of these mutations are included where observed. Most of the changes are benign. The majority of …
Analbuminemia in a Slovak Romany (gypsy) family: case report and mutational analysis.
Campagnoli M, Rosipal S, Debreová M, Rosipal R, Sala A, Romano A, Labò S, Galliano M, Minchiotti L. Campagnoli M, et al. Clin Chim Acta. 2006 Mar;365(1-2):188-93. doi: 10.1016/j.cca.2005.08.016. Epub 2005 Sep 22. Clin Chim Acta. 2006. PMID: 16183048
BACKGROUND: Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin. ...CONCLUSIONS: Our results confirm that the combination of SSCP and HA represents a powerful tool to study the molecular defects …
BACKGROUND: Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum …
Albumin-deficient mouse models for studying metabolism of human albumin and pharmacokinetics of albumin-based drugs.
Roopenian DC, Low BE, Christianson GJ, Proetzel G, Sproule TJ, Wiles MV. Roopenian DC, et al. MAbs. 2015;7(2):344-51. doi: 10.1080/19420862.2015.1008345. MAbs. 2015. PMID: 25654695 Free PMC article.
Intravenous administration of human albumin to Tg32-Alb(-/-) mFcRn(-/-) hFcRn(Tg/Tg)) mice results in a remarkably extended human albumin serum half-life of 24 days, comparable to that found in humans, and in contrast to half-lives of 2.6-5.8 d observed in B6, B6-Alb(-/-) …
Intravenous administration of human albumin to Tg32-Alb(-/-) mFcRn(-/-) hFcRn(Tg/Tg)) mice results in a remarkably extended human albumin se …
Nephrotic hyperlipidemia: primary abnormalities in both lipoprotein catabolism and synthesis.
Kaysen GA. Kaysen GA. Miner Electrolyte Metab. 1992;18(2-5):212-6. Miner Electrolyte Metab. 1992. PMID: 1465061 Review.
Lipoprotein synthesis is increased and catabolism is reduced in nephrotic patients and animals. The observation that infusion of either albumin or dextran reduces lipid levels suggests that oncotic pressure (pi) may regulate lipogenesis. ...Furthermore, chylomicrons (CM) a …
Lipoprotein synthesis is increased and catabolism is reduced in nephrotic patients and animals. The observation that infusion of eith …
16 results