Associated Papers
PIK3CA Mutations Downregulate PPT1 to Promote Adipogenesis by Suppressing P300 Depalmitoylation and Phase Separation.
Chen H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models.
Rizzuti M et al.
Stem Cell Reports, 2025
Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.
Franco PC et al.
Communications Medicine, 2025
Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.
Joaquim M et al.
Journal of Cell Science, 2025
A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.
Barsa C et al.
Scientific Reports, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
DRP2 Mutation in Familial Autism Spectrum Disorder: A Case Report of 2 Consanguineous Patients.
Karim H et al.
Clinical Medicine Insights. Case Reports, 2025
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli I et al.
Jci Insight, 2024
Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.
Guidorizzi NR et al.
Frontiers in Endocrinology, 2024
A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
Franco A et al.
Elife, 2023
An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review.
Zhang Y et al.
Gene, 2023
E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.
Anton V et al.
Molecular Cell, 2023
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion.
Mann JP et al.
Elife, 2023
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Bowling KM et al.
Genome Medicine, 2022
Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene.
Ababneh NA et al.
Stem Cell Research, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.
Zaman M et al.
Frontiers in Cell and Developmental Biology, 2022
Genetic testing in individuals with cerebral palsy.
May HJ et al.
Developmental Medicine and Child Neurology, 2021
Genetics of lipodystrophy syndromes.
Jéru I
Presse Medicale (paris, France : 1983), 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.
Brockman DG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.
He C et al.
Nature Communications, 2021
Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss.
Sharma G et al.
F1000research, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
Establishment of a human induced pluripotent stem cell line, JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2 gene.
Ababneh NA et al.
Stem Cell Research, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Yield of next-generation neuropathy gene panels in axonal neuropathies.
Lee DC et al.
Journal of the Peripheral Nervous System : Jpns, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Genetic syndromes of severe insulin resistance.
Melvin A et al.
Current Opinion in Genetics & Development, 2018
A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.
Dankwa L et al.
Journal of the Peripheral Nervous System : Jpns, 2018
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease.
Hikiami R et al.
Journal of Human Genetics, 2018
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
Rocha N et al.
Elife, 2017
Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.
Apellániz-Ruiz M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
Sawyer SL et al.
Human Molecular Genetics, 2015
MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
Carr AS et al.
Journal of the Peripheral Nervous System : Jpns, 2015
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Zimoń M et al.
Neurogenetics, 2015
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
Høyer H et al.
Biomed Research International, 2014