Catherine Badens
A5071662056- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Erythrocyte Function and Pathophysiology
- Blood groups and transfusion
- Nuclear Structure and Function
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Neonatal Health and Biochemistry
- Blood properties and coagulation
- Celiac Disease Research and Management
- Genomics and Rare Diseases
- RNA modifications and cancer
- Ion channel regulation and function
- melanin and skin pigmentation
- Genomic variations and chromosomal abnormalities
- Metabolism and Genetic Disorders
- RNA regulation and disease
- RNA and protein synthesis mechanisms
- Immunodeficiency and Autoimmune Disorders
- Acute Myeloid Leukemia Research
- Lipid metabolism and biosynthesis
- Cellular Mechanics and Interactions
- Hemoglobin structure and function
- Genetic factors in colorectal cancer
- Digestive system and related health
Assistance Publique Hôpitaux de Marseille
2014-2025
Inserm
2016-2025
Aix-Marseille Université
2016-2025
Laboratoire de Génétique Cellulaire
2006-2025
Génétique Médicale & Génomique Fonctionelle
2012-2024
Hôpital de la Timone
2014-2024
Centre de Génétique Médicale de Marseille
2019-2024
Hôpital d'Enfants
2000-2023
Hôpital Robert-Debré
2023
Université Paris Cité
2023
To determine the phenotypic spectrum caused by mutations in GRIN1 encoding NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology.We collected molecular clinical data from several diagnostic research cohorts. Functional consequences of were investigated Xenopus laevis oocytes.We identified heterozygous de novo 14 individuals reviewed phenotypes all 9 previously reported patients. These 23 presented with a distinct phenotype profound developmental delay,...
Restrictive dermopathy (RD) is characterized by intrauterine growth retardation, tight and rigid skin with prominent superficial vessels, bone mineralization defects, dysplastic clavicles, arthrogryposis early neonatal death. In two patients affected RD, we recently reported different heterozygous splicing mutations in the LMNA gene, leading to production accumulation of truncated Prelamin A. other patients, a single nucleotide insertion was identified ZMPSTE24. This variation located...
Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures has contributed a reduction in childhood mortality from SCD. Policies methodologies NBS vary different countries, this might have consequences the quality clinical outcomes across Europe. A two-day Pan-European consensus conference was held Berlin April 2017 order appraise current status...
W e describe the clinical, hematologic and genetic characteristics of a retrospective series 126 subjects from 64 families with hereditary xerocytosis.Twelve patients six carried KCNN4 mutation, five had recurrent p.Arg352His mutation one new deletion at exon 7-intron 7 junction.Forty-nine PIEZO1 which was known in only one-third cases private sequence variation others; 12 probably pathogenic missense mutations were identified.The two dominant features leading to diagnosis hemolysis that...
Background β-thalassemia is a rare disease in France, encountered mainly patients originating from Italy and North Africa. In the setting of recent French plan for diseases, National Registry thalassemia has been developed since 2005. Epidemiological clinical data have collected on living with major or intermedia, including those who underwent hematopoietic stem cell transplantation.Design Methods A standardized questionnaire was sent to clinicians throughout national professional networks...
Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development. Several genes been associated with EOEE and molecular diagnosis workup is challenging since similar phenotypes mutations different one given gene can be very phenotypes. Recently, de novo KCNQ2, found about 10% of patients. Our objective was to confirm that KCNQ2 an important include the EOEEs fully...
A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped 5 genetic modifiers severity: i) β-thalassemia mutations; (ii) XmnI SNP; (iii) -3.7 kb α-thal deletion; (iv) tag-SNP rs 11886868 BCL11A exon 2; and (v) rs9399137 HBSB1L-cMYB inter-region. Multivariate analysis was performed to study risk thalassemia Intermedia phenotype associated with different combinations alleles. The presence or absence favorable alleles could accurately predict type 83.2%...
Clinical and hematologic characteristics of beta(β)-thalassemia are determined by several factors resulting in a wide spectrum severity. Phenotype modulators are: HBB mutations, HBA defects fetal hemoglobin production (HBG2:g.−158C>T polymorphism, HBS1L-MYB intergenic region the BCL11A). We characterized 54 genetic variants at these five loci robustly associated with amelioration beta-thalassemia phenotype, to build predictive score severity using representative cohort 890 β-thalassemic...
The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have published. We aimed to better describe phenotype of this condition, focus on morphological neurological features. Through national collaborative study, we report large French 59 affected males interstitial duplication. Most (93%) shared...
The fraction of red blood cells adopting a specific motion under low shear flow is promising inexpensive marker for monitoring the clinical status patients with sickle cell disease. Its high-throughput measurement relies on video analysis thousands motions each sample to eliminate large majority unreliable samples (out focus or overlapping cells) and discriminate between tank-treading flipping motion, characterizing highly poorly deformable respectively. Moreover, these videos are different...
Abstract Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis rare diseases. The publication episignatures as effective biomarkers certain Mendelian neurodevelopmental disorders has raised hopes to help classify VUS. However, prediction abilities most published have not been independently investigated yet, which is prerequisite an informed and rigorous use in diagnostic setting. We generated DNA methylation data from 101 carriers (likely) pathogenic...
Lamins play a major role in the mechanical stability of cell nuclei, organisation chromatin and DNA replication, transcription repair. The expression profiles A-type B-type lamins vary depending on developmental stages, types tissues. Lamin B2 is expressed very early embryogenesis, especially central nervous system, where it essential for neuronal migration brain development. Pathogenic missense variants lamin have been linked to conditions such as lipodystrophy, progressive myoclonic...
The Tricho-Hepato-Enteric (THE) syndrome is an autosomal recessive condition marked by early and intractable diarrhea, hair abnormalities, immune defects. Mutations in TTC37, which encodes the putative protein Thespin, have recently been associated with THE syndrome. In this article, we extend pattern of TTC37 mutations description 11 novel 9 patients a typical were spread along gene sequence, none themrecurrent. Different types mutation observed: frameshift mutations, splice-site altering...