| Pancytopenia and megaloblastic erythropoiesis reveal a novel GIF mutation. | Pancytopenia and megaloblastic erythropoiesis reveal a novel GIF mutation.
Saultier P, Loosveld M, Benoist JF, Michel G. | 03/30/2019 |
| The gastric intrinsic factor (GIF) 290C heterozygous/fucosyltransferase 2 (secretor status included) protein (FUT2) rs601338 secretor variant combined genotype was indicated in 6 of the 37 neural tube defects (NTDs) fetuses. | Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects.
Guéant-Rodriguez RM, Chery C, Caillierez-Fofou BM, Voirin J, Foliguet B, Josse T, Tramoy D, Feillet F, Guéant JL. | 08/11/2018 |
| the present findings reveal that High-altitude polycythemia -induced gastric mucosal lesion inspires the protection responses by up-regulating APOA4 and APOC3, and down-regulating GIF. | Transcriptome Reveals 1400-Fold Upregulation of APOA4-APOC3 and 1100-Fold Downregulation of GIF in the Patients with Polycythemia-Induced Gastric Injury.
Li K, Gesang L, Dan Z, Gusang L, Dawa C, Nie Y., Free PMC Article | 06/11/2016 |
| study reports that FUT2 secretor variant influences GIF secretion in B12 deficient cases bearing GIF heterozygous mutations, in absence of H. pylori related gastritis | Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant.
Chery C, Hehn A, Mrabet N, Oussalah A, Jeannesson E, Besseau C, Alberto JM, Gross I, Josse T, Gérard P, Guéant-Rodriguez RM, Freund JN, Devignes J, Bourgaud F, Peyrin-Biroulet L, Feillet F, Guéant JL. | 11/16/2013 |
| 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 |
| Acute lymphoblastic leukemia and vitamin B12 deficiency secondary to a gastric intrinsic factor gene mutation | Acute lymphoblastic leukemia and vitamin B12 deficiency secondary to a gastric intrinsic factor gene mutation.
Zia A, Fışgin T, Sokolowski C, Tanner SM, Savaşan S. | 10/20/2012 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk.
Levine AJ, Figueiredo JC, Lee W, Conti DV, Kennedy K, Duggan DJ, Poynter JN, Campbell PT, Newcomb P, Martinez ME, Hopper JL, Le Marchand L, Baron JA, Limburg PJ, Ulrich CM, Haile RW., Free PMC Article | 09/15/2010 |
| crystal structure of the complex between IF-Cbl and the cubilin IF-Cbl-binding-region (CUB(5-8)) determined at 3.3 A resolution | Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes.
Andersen CB, Madsen M, Storm T, Moestrup SK, Andersen GR. | 05/3/2010 |
| a specific GIF mutation to be responsible for all Juvenile cobalamin deficiency cases of West-African origin so far was identified | Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF.
Ament AE, Li Z, Sturm AC, Perko JD, Lawson S, Masterson M, Quadros EV, Tanner SM., Free PMC Article | 01/21/2010 |
| The Q5R mutation of the intrinsic factor gene predisposes to adult-onset pernicious anemia & other causes of low vitamin B12. In this mutation, intrinsic factor secretion is preserved but B12 absorption may be impaired. | Role of (Glu --> Arg, Q5R) mutation of the intrinsic factor in pernicious anemia and other causes of low vitamin B12.
Remacha AF, Del Río E, Sardà MP, Canals C, Simó M, Baiget M. | 01/21/2010 |
| possible basis for the lack of interchangeability of human and rat IF receptors is presented | Crystal structure of human intrinsic factor: cobalamin complex at 2.6-A resolution.
Mathews FS, Gordon MM, Chen Z, Rajashankar KR, Ealick SE, Alpers DH, Sukumar N., Free PMC Article | 01/21/2010 |
| The parameters obtained for ligand and receptor binding in this study indicate that both full-length 50-kDA intrinsic factor and its 30-kDa and 20-kDa fragments may be involved in assimilation of cobalamin. | Composite organization of the cobalamin binding and cubilin recognition sites of intrinsic factor.
Fedosov SN, Fedosova NU, Berglund L, Moestrup SK, Nexø E, Petersen TE. | 01/21/2010 |
| A polymorphism in the gastric intrinsic factor gene is associated with congenital intrinsic factor deficiency. | A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.
Gordon MM, Brada N, Remacha A, Badell I, del Río E, Baiget M, Santer R, Quadros EV, Rothenberg SP, Alpers DH. | 01/21/2010 |