Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. - Wikidata - wikimedia - TriplyDB

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

http://www.wikidata.org/entity/Q34177797

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Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)Targeted disruption of cubilin reveals essential developmental roles in the structure and function of endoderm and in somite formation AMN directs endocytosis of the intrinsic factor-vitamin B(12) receptor cubam by engaging ARH or Dab2 Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene Inherited metabolic disease in companion animals: searching for nature's mistakes Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF From bowel to kidneys: the role of cubilin in physiology and disease Dab2, megalin, cubilin and amnionless receptor complex might mediate intestinal endocytosis in the suckling rat Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.Amnion formation in the mouse embryo: the single amniochorionic fold model.A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).Inborn errors of cobalamin absorption and metabolism.Vitamin B12 deficiency in a 15-year old boy due to mutations in the intrinsic factor gene, GIF.Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.Cubilin is essential for albumin reabsorption in the renal proximal tubule.The kidney in vitamin B12 and folate homeostasis: characterization of receptors for tubular uptake of vitamins and carrier proteins.Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS.MESD is essential for apical localization of megalin/LRP2 in the visceral endoderm.Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.Juvenile selective vitamin B₁₂ malabsorption: 50 years after its description-10 years of genetic testing Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo.Failure to thrive and life-threatening complications due to inherited selective cobalamin malabsorption effectively managed in a juvenile Australian shepherd dog.Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Hereditary intrinsic factor deficiency in chaldeans.An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs Lmbrd1 expression is essential for the initiation of gastrulation Vitamin B(12) metabolism during pregnancy and in embryonic mouse models.Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Gräsbeck syndrome) in juvenile Beagles.Molecular mechanisms of receptor-mediated endocytosis in the renal proximal tubular epithelium.A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?The pathophysiology of elevated vitamin B12 in clinical practice.Proximal tubule cell hypothesis for cardiorenal syndrome in diabetes.Lack of megalin expression in adult human terminal ileum suggests megalin-independent cubilin/amnionless activity during vitamin B12 absorption Transcobalamin deficiency due to activation of an intra exonic cryptic splice site.Using the Drosophila Nephrocyte to Model Podocyte Function and Disease.

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P2860

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

http://www.wikidata.org/entity/Q34177797

description

2003 nî lūn-bûn

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2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2003 թվականի փետրվարին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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Amnionless, essential for mous ...... reditary megaloblastic anemia.

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Amnionless, essential for mous ...... reditary megaloblastic anemia.

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Amnionless, essential for mous ...... reditary megaloblastic anemia.

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Amnionless, essential for mous ...... reditary megaloblastic anemia.

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Amnionless, essential for mous ...... reditary megaloblastic anemia.

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Amnionless, essential for mous ...... reditary megaloblastic anemia.

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Amnionless, essential for mous ...... reditary megaloblastic anemia.

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Amnionless, essential for mous ...... reditary megaloblastic anemia.

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Amnionless, essential for mous ...... reditary megaloblastic anemia.

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Anne Saarinen

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Fred A Wright

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Hanna Mandel

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Harald Broch

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Maria Aminoff

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10.1038/NG1098

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33

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Sandya Liyanarachchi

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10897731

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