Associated Papers
Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Płoszaj T et al.
Acta Diabetologica, 2026
Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.
Hwang M et al.
International Journal of Molecular Sciences, 2026
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.
Di Pasquale G et al.
Clinical Genetics, 2025
Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts.
Bauer R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants.
Yuan H et al.
Stem Cell Reports, 2025
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
Fernández-Pombo A et al.
Diabetes, Obesity & Metabolism, 2024
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.
Besci O et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.
Mitrotti A et al.
International Journal of Molecular Sciences, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Genetic variants identified in novel candidate genes for anorexia nervosa and analysis of molecular pathways for diagnostic applications.
Donato K et al.
European Review for Medical and Pharmacological Sciences, 2023
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.
Lenarduzzi S et al.
Molecular Genetics & Genomic Medicine, 2023
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
LMNA Variants and Risk of Adult-Onset Cardiac Disease.
Lazarte J et al.
Journal of the American College of Cardiology, 2022
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
Pessente GD et al.
Frontiers in Cardiovascular Medicine, 2022
Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X.
De Zio R et al.
Frontiers in Cell and Developmental Biology, 2022
Phosphorylation of Lamin A/C at serine 22 modulates Nav 1.5 function.
Olaopa MA et al.
Physiological Reports, 2021
Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.
Araújo de Melo Campos JT et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Partial Lipodystrophy and LMNA p.R545H Variant.
Magno S et al.
Journal of Clinical Medicine, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.
Patni N et al.
Journal of Medical Genetics, 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
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.
Soyaltin UE et al.
Clinical Diabetes and Endocrinology, 2020
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Inflammatory myopathy in the context of an unusual overlapping laminopathy.
Guillín-Amarelle C et al.
Archives of Endocrinology and Metabolism, 2018
Lipodystrophic laminopathies: Diagnostic clues.
Guillín-Amarelle C et al.
Nucleus (austin, Tex.), 2018
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B et al.
Plos One, 2017
Inhibition of late sodium current attenuates ionic arrhythmia mechanism in ventricular myocytes expressing LaminA-N195K mutation.
Markandeya YS et al.
Heart Rhythm, 2016
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Familial partial lipodystrophy presenting as metabolic syndrome.
Chan D et al.
Journal of Clinical Lipidology, 0
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0