A5083064307- Cystic Fibrosis Research Advances
- RNA and protein synthesis mechanisms
- Protein Structure and Dynamics
- DNA Repair Mechanisms
- T-cell and Retrovirus Studies
- Enzyme Structure and Function
- Neonatal Respiratory Health Research
- Advanced biosensing and bioanalysis techniques
- Machine Learning in Bioinformatics
- Immunodeficiency and Autoimmune Disorders
- RNA Research and Splicing
- Erythrocyte Function and Pathophysiology
- Animal Disease Management and Epidemiology
- Telomeres, Telomerase, and Senescence
- Immune Cell Function and Interaction
- Genomics and Phylogenetic Studies
- Hemoglobinopathies and Related Disorders
- Blood groups and transfusion
- RNA modifications and cancer
- Iron Metabolism and Disorders
- Trace Elements in Health
- Glycosylation and Glycoproteins Research
- Drug Transport and Resistance Mechanisms
- Nuclear Structure and Function
- Cell Adhesion Molecules Research
Sorbonne Université
2016-2025
Centre National de la Recherche Scientifique
2016-2025
Muséum national d'Histoire naturelle
2016-2025
Institut de minéralogie, de physique des matériaux et de cosmochimie
2015-2024
Institut de Recherche pour le Développement
2014-2024
Laboratoire de Minéralogie & Cosmochimie du Muséum
2019-2020
Université Paris Cité
2007-2019
Laboratoire de Biologie Computationnelle et Quantitative
2019
Sorbonne Paris Cité
2014-2017
Inserm
1994-2014
Inherited mutations in BRCA1 predispose to breast and ovarian cancer, but the biological function of protein has remained largely elusive. The recent correspondence Koonin et al. [Koonin, E.V., Altschul, S.F. Bork, P. (1996) Nature Genet. 13, 266–267] emphasized potential importance C‐terminal region for BRCA1‐mediated cancer suppression, as this domain shows similarities with regions a p53‐binding (53BP1), yeast RAD9 involved DNA repair, two uncharacterized, hypothetical proteins (KIAA0170...
Innate immunity to viral infection involves induction of the type I IFN response; however, dysfunctional regulation this pathway leads inappropriate inflammation. Here, we evaluated a nonconsanguineous family mixed European descent, with 4 members affected by systemic inflammatory and autoimmune conditions, including lupus, variable clinical expression. We identified germline dominant gain-of-function mutation in TMEM173, which encodes stimulator gene (STING), individuals. STING is key...
Ewes from the Booroola strain of Australian Mérino sheep are characterized by high ovulation rate and litter size. This phenotype is due to action FecB(B) allele a major gene named FecB, as determined statistical analysis phenotypic data. By genetic 31 informative half-sib families heterozygous sires, we showed that FecB locus situated in region ovine chromosome 6 corresponding human 4q22-23 contains bone morphogenetic protein receptor IB (BMPR-IB) encoding member transforming growth...
Intrinsically disordered proteins, defying the traditional protein structure-function paradigm, are a challenge to study experimentally. Because large part of our knowledge rests on computational predictions, it is crucial that their accuracy high. The Critical Assessment Intrinsic Disorder prediction (CAID) experiment was established as community-based blind test determine state art in intrinsically regions and subset residues involved binding. A total 43 methods were evaluated dataset 646...
Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given that familial pulmonary fibrosis (FPF) RA-ILD frequently share usual pattern pneumonia common environmental risk factors, we hypothesised two diseases might additional including FPF-linked genes. Our aim was to identify coding mutations FPF-risk genes associated with RA-ILD.We used whole exome sequencing (WES), followed by restricted...
Oncostatin M (OSM) is a cytokine with the unique ability to interact both OSM receptor (OSMR) and leukemia inhibitory factor (LIFR). On other hand, OSMR interacts IL31RA form interleukin-31 receptor. This intricate network of cytokines receptors makes it difficult understand specific function OSM. While monoallelic loss-of-function (LoF) mutations in underlie autosomal dominant familial primary localized cutaneous amyloidosis, vivo consequences human deficiency have never been reported so...
The "MAN antigens" are polypeptides recognized by autoantibodies from a patient with collagen vascular disease and localized to the nuclear envelope. We now show that one of human MAN antigens termed MAN1 is 82.3-kDa protein an amino-terminal domain followed two hydrophobic segments carboxyl-terminal tail. <i>MAN1</i> gene contains seven protein-coding exons assigned chromosome 12q14. Its mRNA approximately 5.5 kilobases detected in several different cell types were examined. Cell extraction...
A separate family of enzymes within the metallo‐β‐lactamase fold comprises several important proteins acting on nucleic acid substrates, involved in DNA repair (Artemis, SNM1 and PSO2) RNA processing [cleavage polyadenylation specificity factor (CPSF) subunit]. Proteins this family, named β‐CASP after names its representative members, possess specific features relative to those other metallo‐β‐lactamases, that are concentrated C‐terminal part domain. In study, using sensitive methods...
The centrosome is the major microtubule organizing structure in somatic cells. Centrosomal nucleation depends on protein γ-tubulin. In mammals, γ-tubulin associates with additional proteins into a large complex, ring complex (γTuRC). We characterize NEDD1, centrosomal that γTuRCs. show majority of γTuRCs assemble even after NEDD1 depletion but require for targeting. contrast, can target to absence NEDD1-depleted cells defects and form aberrant mitotic spindles poorly separated poles. Similar...
Using sensitive methods of sequence analysis including hydrophobic cluster analysis, we report here a hitherto undescribed family modules, the BAH (bromo‐adjacent homology) family, which includes proteins such as eukaryotic DNA (cytosine‐5) methyltransferases, origin recognition complex 1 (Orc1) proteins, well several involved in transcriptional regulation. The domain appears to act protein‐protein interaction module specialized gene silencing, suggested for example by its within yeast Orc1p...
Hoyeraal–Hreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset bone marrow failure, immunodeficiency and developmental defects. Several factors involved in telomere length maintenance and/or protection are defective HHS/DC, underlining the relationship between dysfunction these diseases. By combining whole-genome linkage analysis exome sequencing, we identified compound heterozygous RTEL1 (regulator elongation helicase 1) mutations three...
Pulmonary fibrosis is a fatal disease with progressive loss of respiratory function. Defective telomere maintenance leading to shortening cause pulmonary fibrosis, as mutations in the telomerase component genes TERT (reverse transcriptase) and TERC (RNA component) are found 15% familial (FPF) cases. However, so far, about 85% FPF remain genetically uncharacterised. Here, order identify new genetic causes FPF, we performed whole-exome sequencing, candidate-gene approach, 47 affected subjects...
Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 implicated in lymphocyte and myeloid differentiation negative regulation of cell proliferation. In humans, somatic mutations have been linked to the development B acute lymphoblastic leukemia (ALL) children adults. Recently, heterozygous germline identified patients with a immune deficiency mimicking common variable immunodeficiency. These demonstrated incomplete penetrance led haploinsufficiency....