Associated Papers
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
Grosz BR et al.
Journal of the Peripheral Nervous System : Jpns, 2024
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
Høyer H et al.
Journal of Medical Genetics, 2022
A Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature.
Tsamis KI et al.
Laboratory Medicine, 2022
Antenatal Membranous Nephropathy and Type 2 (Axonal) Charcot-Marie-Tooth With Mutations in the Metallo-Membrane Endopeptidase Gene: A Call for Family Screening and Pharmacovigilance.
Nortier JL et al.
Kidney International Reports, 2021
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J et al.
Neurology, 2020
Hereditary axonal neuropathy related to MME gene mutation in a family with fetomaternal alloimmune glomerulonephritis.
Dupuis M et al.
Acta Neurologica Belgica, 2020
Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.
Hong D et al.
Annals of Clinical and Translational Neurology, 2019
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
Lupo V et al.
Journal of Medical Genetics, 2018
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M et al.
American Journal of Human Genetics, 2016
Genetic homogeneity but IgG subclass-dependent clinical variability of alloimmune membranous nephropathy with anti-neutral endopeptidase antibodies.
Vivarelli M et al.
Kidney International, 2015
Natriuretic peptide pharmacogenetics: membrane metallo-endopeptidase (MME): common gene sequence variation, functional characterization and degradation.
Pereira NL et al.
Journal of Molecular and Cellular Cardiology, 2010
Mechanisms of disease: Alloimmunization in renal diseases.
Ronco P et al.
Nature Clinical Practice. Nephrology, 2006
Role of truncating mutations in MME gene in fetomaternal alloimmunisation and antenatal glomerulopathies.
Debiec H et al.
Lancet (london, England), 0
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