Associated Papers
PRESCOTT: a population aware, epistatic, and structural model accurately predicts missense effects.
Tekpinar M et al.
Genome Biology, 2025
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations.
Kandolin M et al.
American Journal of Medical Genetics. Part A, 2024
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
Kingma SDK et al.
Orphanet Journal of Rare Diseases, 2023
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
Domingo-Gallego A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.
Klämbt V et al.
Kidney International Reports, 2021
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M et al.
The Journal of Clinical Investigation, 2020
Not all proteinuria is created equal.
Beenken A et al.
The Journal of Clinical Investigation, 2020
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.
Storm T et al.
Bmc Medical Genetics, 2013
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM et al.
Orphanet Journal of Rare Diseases, 2012
CUBN as a novel locus for end-stage renal disease: insights from renal transplantation.
Reznichenko A et al.
Plos One, 2012
Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes.
Andersen CB et al.
Nature, 2010
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
Hazra A et al.
Human Molecular Genetics, 2009
An update on cobalamin deficiency in adults.
Dali-Youcef N et al.
Qjm : Monthly Journal of the Association of Physicians, 2009
Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.
Bouchlaka C et al.
Journal of Human Genetics, 2007
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
Tanner SM et al.
Human Mutation, 2004
Canine Imerslund-Gräsbeck syndrome maps to a region orthologous to HSA14q.
He Q et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2003
Generation of a haptoglobin-hemoglobin complex-specific Fab antibody blocking the binding of the complex to CD163.
Horn IR et al.
European Journal of Haematology, 2003
Megalin and cubilin are endocytic receptors involved in renal clearance of hemoglobin.
Gburek J et al.
Journal of the American Society of Nephrology : Jasn, 2002
Database for the mutations of the Finnish disease heritage.
Sipilä K et al.
Human Mutation, 2002
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.
Kristiansen M et al.
Blood, 2000
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Aminoff M et al.
Nature Genetics, 1999