| Imerslund-Grasbeck Syndrome presenting with microangiopathic hemolytic anemia in a child. | Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child.
Gurlek Gokcebay D, Akpinar Tekgunduz S, Cavdarli B. | 01/2/2021 |
| Data indicate the crystal structure of amnionless (AMN) in complex with the amino-terminal region of intrinsic factor-cobalamin receptor (cubilin). | Structural assembly of the megadalton-sized receptor for intestinal vitamin B(12) uptake and kidney protein reabsorption.
Larsen C, Etzerodt A, Madsen M, Skjødt K, Moestrup SK, Andersen CBF., Free PMC Article | 01/5/2019 |
| Study shows that cubilin mutations (novel and some previously reported) and all previously reported amnionless missense mutations resulted in endoplasmic reticulum retention and completely inhibited amnionless-dependent plasma membrane expression of cubilin. | Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.
Udagawa T, Harita Y, Miura K, Mitsui J, Ode KL, Morishita S, Urae S, Kanda S, Kajiho Y, Tsurumi H, Ueda HR, Tsuji S, Saito A, Oka A., Free PMC Article | 12/22/2018 |
| heterozygous mutations in AMN in a family from the United Kingdom with clinical features of Imerslund-Grasbeck Syndrome | Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.
Montgomery E, Sayer JA, Baines LA, Hynes AM, Vega-Warner V, Johnson S, Goodship JA, Otto EA., Free PMC Article | 07/4/2015 |
| Our genetic screening of 154 families of patients with inherited cobalamin malabsorption revealed population-specific mutations, mutational hotspots, and functionally distinct regions in the three causal genes: CUBN, AMN, and GIF. | Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM, Sturm AC, Baack EC, Liyanarachchi S, de la Chapelle A., Free PMC Article | 02/16/2013 |
| We present evidence that this founder mutation causes over 50% of the Imerslund-Grasbeck syndrome (IGS) cases among Arabic, Turkish, and Sephardic Jewish families, and the mutation is as old as human civvlization. | Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.
Beech CM, Liyanarachchi S, Shah NP, Sturm AC, Sadiq MF, de la Chapelle A, Tanner SM., Free PMC Article | 03/3/2012 |
| amnionless is essential for the correct luminal expression of cubilin in humans. | Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.
Namour F, Dobrovoljski G, Chery C, Audonnet S, Feillet F, Sperl W, Gueant JL., Free PMC Article | 02/25/2012 |
| Recurrent spontaneous abortions may be caused by mutations in the Amnionless gene. | Variations of the Amnionless gene in recurrent spontaneous abortions.
Kaare M, Painter JN, Ulander VM, Kaaja R, Aittomäki K. | 01/21/2010 |
| This review summarizes recent data on the biological function of amnionless and focuses on its implication in embryonic nutrition and central nervous system malformations. | Multiligand endocytosis and congenital defects: roles of cubilin, megalin and amnionless.
Kozyraki R, Gofflot F. | 01/21/2010 |
| cubilin and amnionless are subunits of a novel cubilin/amnionless (cubam) complex | The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.
Fyfe JC, Madsen M, Højrup P, Christensen EI, Tanner SM, de la Chapelle A, He Q, Moestrup SK. | 01/21/2010 |
| homozygous mutations affecting exons 1-4 of human AMN lead to megaloblastic anemia 1 | Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.
Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chapelle A. | 01/21/2010 |