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  1. Article ; Online: A comparative genomics approach reveals a local genetic signature of

    Talimi, Hasnaa / Daoui, Othmane / Bussotti, Giovanni / Mhaidi, Idris / Boland, Anne / Deleuze, Jean-François / Fissoune, Rachida / Lemrani, Meryem / F Späth, Gerald

    Microbial genomics

    2024  Volume 10, Issue 4

    Abstract: In Morocco, cutaneous leishmaniasis (CL) caused ... ...

    Abstract In Morocco, cutaneous leishmaniasis (CL) caused by
    MeSH term(s) Humans ; Leishmania tropica/genetics ; Phylogeny ; DNA Copy Number Variations ; Morocco/epidemiology ; Leishmaniasis, Cutaneous/epidemiology ; Leishmaniasis, Cutaneous/parasitology ; Genomics
    Language English
    Publishing date 2024-04-05
    Publishing country England
    Document type Journal Article
    ZDB-ID 2835258-0
    ISSN 2057-5858 ; 2057-5858
    ISSN (online) 2057-5858
    ISSN 2057-5858
    DOI 10.1099/mgen.0.001230
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Genome-wide association study of early-onset and late-onset postpartum depression: the IGEDEPP prospective study.

    Tebeka, Sarah / Gloaguen, Emilie / Mullaert, Jimmy / He, Qin / Boland, Anne / Deleuze, Jean-Francois / Jamet, Camille / Ramoz, Nicolas / Dubertret, Caroline

    European psychiatry : the journal of the Association of European Psychiatrists

    2024  , Page(s) 1–36

    Language English
    Publishing date 2024-04-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 1074337-6
    ISSN 1778-3585 ; 0767-399X ; 0924-9338
    ISSN (online) 1778-3585
    ISSN 0767-399X ; 0924-9338
    DOI 10.1192/j.eurpsy.2024.26
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2369: Show issues Location:
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    Zs.MO 558: Show issues

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  3. Article: De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes.

    Loe-Mie, Yann / Plançon, Christine / Dubertret, Caroline / Yoshikawa, Takeo / Yalcin, Binnaz / Collins, Stephan C / Boland, Anne / Deleuze, Jean-François / Gorwood, Philip / Benmessaoud, Dalila / Simonneau, Michel / Lepagnol-Bestel, Aude-Marie

    Life (Basel, Switzerland)

    2024  Volume 14, Issue 2

    Abstract: Schizophrenia (SZ) is a heterogeneous and debilitating psychiatric disorder with a strong genetic component. To elucidate functional networks perturbed in schizophrenia, we analysed a large dataset of whole-genome studies that identified SNVs, CNVs, and ... ...

    Abstract Schizophrenia (SZ) is a heterogeneous and debilitating psychiatric disorder with a strong genetic component. To elucidate functional networks perturbed in schizophrenia, we analysed a large dataset of whole-genome studies that identified SNVs, CNVs, and a multi-stage schizophrenia genome-wide association study. Our analysis identified three subclusters that are interrelated and with small overlaps: GO:0007017~Microtubule-Based Process, GO:00015629~Actin Cytoskeleton, and GO:0007268~SynapticTransmission. We next analysed three distinct trio cohorts of 75 SZ Algerian, 45 SZ French, and 61 SZ Japanese patients. We performed Illumina HiSeq whole-exome sequencing and identified de novo mutations using a Bayesian approach. We validated 88 de novo mutations by Sanger sequencing: 35 in French, 21 in Algerian, and 32 in Japanese SZ patients. These 88 de novo mutations exhibited an enrichment in genes encoding proteins related to GO:0051015~actin filament binding (
    Language English
    Publishing date 2024-02-09
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662250-6
    ISSN 2075-1729
    ISSN 2075-1729
    DOI 10.3390/life14020244
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  4. Article ; Online: Upstream open reading frame-introducing variants in patients with primary familial brain calcification.

    Rovelet-Lecrux, Anne / Bonnevalle, Antoine / Quenez, Olivier / Delcroix, Wandrille / Cassinari, Kévin / Richard, Anne-Claire / Boland, Anne / Deleuze, Jean-François / Goizet, Cyril / Rucar, Alice / Verny, Christophe / Nguyen, Karine / Lecourtois, Magalie / Nicolas, Gaël

    European journal of human genetics : EJHG

    2024  

    Abstract: More than 50% of patients with primary familial brain calcification (PFBC), a rare neurological disorder, remain genetically unexplained. While some causative genes are yet to be identified, variants in non-coding regions of known genes may represent a ... ...

    Abstract More than 50% of patients with primary familial brain calcification (PFBC), a rare neurological disorder, remain genetically unexplained. While some causative genes are yet to be identified, variants in non-coding regions of known genes may represent a source of missed diagnoses. We hypothesized that 5'-Untranslated Region (UTR) variants introducing an AUG codon may initiate mRNA translation and result in a loss of function in some of the PFBC genes. After reannotation of exome sequencing data of 113 unrelated PFBC probands, we identified two upstream AUG-introducing variants in the 5'UTR of PDGFB. One, NM_002608.4:c.-373C>G, segregated with PFBC in the family. It was predicted to create an upstream open reading frame (ORF). The other one, NM_002608.4:c.-318C>T, was found in a simplex case. It was predicted to result in an ORF overlapping the natural ORF with a frameshift. In a GFP reporter assay, both variants were associated with a dramatic decrease in GFP levels, and, after restoring the reading frame with the GFP sequence, the c.-318C>T variant was associated with a strong initiation of translation as measured by western blotting. Overall, we found upstream AUG-introducing variants in the 5'UTR of PDGFB in 2/113 (1.7%) undiagnosed PFBC cases. Such variants thus represent a source of putative pathogenic variants.
    Language English
    Publishing date 2024-03-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-024-01580-4
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3589: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  5. Article ; Online: Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels.

    André, Mathilde / Brucato, Nicolas / Hudjasov, Georgi / Pankratov, Vasili / Yermakovich, Danat / Montinaro, Francesco / Kreevan, Rita / Kariwiga, Jason / Muke, John / Boland, Anne / Deleuze, Jean-François / Meyer, Vincent / Evans, Nicholas / Cox, Murray P / Leavesley, Matthew / Dannemann, Michael / Org, Tõnis / Metspalu, Mait / Mondal, Mayukh /
    Ricaut, François-Xavier

    Nature communications

    2024  Volume 15, Issue 1, Page(s) 3352

    Abstract: Highlanders and lowlanders of Papua New Guinea have faced distinct environmental stress, such as hypoxia and environment-specific pathogen exposure, respectively. In this study, we explored the top genomics regions and the candidate driver SNPs for ... ...

    Abstract Highlanders and lowlanders of Papua New Guinea have faced distinct environmental stress, such as hypoxia and environment-specific pathogen exposure, respectively. In this study, we explored the top genomics regions and the candidate driver SNPs for selection in these two populations using newly sequenced whole-genomes of 54 highlanders and 74 lowlanders. We identified two candidate SNPs under selection - one in highlanders, associated with red blood cell traits and another in lowlanders, which is associated with white blood cell count - both potentially influencing the heart rate of Papua New Guineans in opposite directions. We also observed four candidate driver SNPs that exhibit linkage disequilibrium with an introgressed haplotype, highlighting the need to explore the possibility of adaptive introgression within these populations. This study reveals that the signatures of positive selection in highlanders and lowlanders of Papua New Guinea align closely with the challenges they face, which are specific to their environments.
    MeSH term(s) Papua New Guinea ; Humans ; Selection, Genetic ; Polymorphism, Single Nucleotide ; Altitude ; Linkage Disequilibrium ; Haplotypes ; Genome, Human ; Genetics, Population
    Language English
    Publishing date 2024-04-30
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-024-47735-1
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  6. Article ; Online: Co-Transplantation of Barcoded Lymphoid-Primed Multipotent (LMPP) and Common Lymphocyte (CLP) Progenitors Reveals a Major Contribution of LMPP to the Lymphoid Lineage.

    Michaels, Victoria / Chalabi, Smahane / Legrand, Agnes / Renard, Julie / Tejerina, Emmanuel / Daouya, Marina / Fabrega, Sylvie / Megret, Jérôme / Olaso, Robert / Boland, Anne / Deleuze, Jean-François / Battail, Christophe / Tronik-Le Roux, Diana / Ezine, Sophie

    International journal of molecular sciences

    2023  Volume 24, Issue 5

    Abstract: T cells have the potential to maintain immunological memory and self-tolerance by recognizing antigens from pathogens or tumors. In pathological situations, failure to generate de novo T cells causes immunodeficiency resulting in acute infections and ... ...

    Abstract T cells have the potential to maintain immunological memory and self-tolerance by recognizing antigens from pathogens or tumors. In pathological situations, failure to generate de novo T cells causes immunodeficiency resulting in acute infections and complications. Hematopoietic stem cells (HSC) transplantation constitutes a valuable option to restore proper immune function. However, delayed T cell reconstitution is observed compared to other lineages. To overcome this difficulty, we developed a new approach to identify populations with efficient lymphoid reconstitution properties. To this end, we use a DNA barcoding strategy based on the insertion into a cell chromosome of a lentivirus (LV) carrying a non-coding DNA fragment named barcode (BC). These will segregate through cell divisions and be present in cells' progeny. The remarkable characteristic of the method is that different cell types can be tracked simultaneously in the same mouse. Thus, we in vivo barcoded LMPP and CLP progenitors to test their ability to reconstitute the lymphoid lineage. Barcoded progenitors were co-grafted in immuno-compromised mice and their fate analyzed by evaluating the BC composition in transplanted mice. The results highlight the predominant role of LMPP progenitors for lymphoid generation and reveal valuable novel insights to be reconsidered in clinical transplantation assays.
    MeSH term(s) Animals ; Mice ; Cell Lineage/genetics ; Lymphocytes/metabolism ; Hematopoietic Stem Cells/metabolism ; T-Lymphocytes ; Hematopoietic Stem Cell Transplantation ; Cell Differentiation
    Language English
    Publishing date 2023-02-22
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24054368
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  7. Article: A Case-Only Genome-Wide Interaction Study of Smoking and Bladder Cancer Risk: Results from the COBLAnCE Cohort.

    Karimi, Maryam / Mendez-Pineda, Sebastian / Blanché, Hélène / Boland, Anne / Besse, Céline / Deleuze, Jean-François / Meng, Xiang-Yu / Sirab, Nanor / Groussard, Karine / Lebret, Thierry / Bonastre, Julia / Allory, Yves / Radvanyi, François / Benhamou, Simone / Michiels, Stefan

    Cancers

    2023  Volume 15, Issue 17

    Abstract: Bladder cancer (BC) is the 6th most common cancer worldwide, with tobacco smoking considered as its main risk factor. Accumulating evidence has found associations between genetic variants and the risk of BC. Candidate gene-environment interaction studies ...

    Abstract Bladder cancer (BC) is the 6th most common cancer worldwide, with tobacco smoking considered as its main risk factor. Accumulating evidence has found associations between genetic variants and the risk of BC. Candidate gene-environment interaction studies have suggested interactions between cigarette smoking and
    Language English
    Publishing date 2023-08-23
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers15174218
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  8. Article ; Online: Inverse Modulation of Aurora Kinase A and Topoisomerase IIα in Normal and Tumor Breast Cells upon Knockdown of Mitochondrial ASncmtRNA.

    Bendek, Maximiliano F / Fitzpatrick, Christopher / Jeldes, Emanuel / Boland, Anne / Deleuze, Jean-François / Farfán, Nicole / Villegas, Jaime / Nardocci, Gino / Montecino, Martín / Burzio, Luis O / Burzio, Verónica A

    Non-coding RNA

    2023  Volume 9, Issue 5

    Abstract: Breast cancer is currently the most diagnosed form of cancer and the leading cause of death by cancer among females worldwide. We described the family of long non-coding mitochondrial RNAs (ncmtRNAs), comprised of sense (SncmtRNA) and antisense ( ... ...

    Abstract Breast cancer is currently the most diagnosed form of cancer and the leading cause of death by cancer among females worldwide. We described the family of long non-coding mitochondrial RNAs (ncmtRNAs), comprised of sense (SncmtRNA) and antisense (ASncmtRNA) members. Knockdown of ASncmtRNAs using antisense oligonucleotides (ASOs) induces proliferative arrest and apoptotic death of tumor cells, but not normal cells, from various tissue origins. In order to study the mechanisms underlying this selectivity, in this study we performed RNAseq in MDA-MB-231 breast cancer cells transfected with ASncmtRNA-specific ASO or control-ASO, or left untransfected. Bioinformatic analysis yielded several differentially expressed cell-cycle-related genes, from which we selected Aurora kinase A (
    Language English
    Publishing date 2023-10-02
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2813993-8
    ISSN 2311-553X ; 2311-553X
    ISSN (online) 2311-553X
    ISSN 2311-553X
    DOI 10.3390/ncrna9050059
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  9. Article ; Online: Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.

    Lenglez, Sandrine / Sablon, Ariane / Fénelon, Gilles / Boland, Anne / Deleuze, Jean-François / Boutoleau-Bretonnière, Claire / Nicolas, Gaël / Demoulin, Jean-Baptiste

    Human molecular genetics

    2021  Volume 31, Issue 3, Page(s) 399–409

    Abstract: Platelet-derived growth factor receptor beta (PDGFRB) is one of the genes associated with primary familial brain calcification (PFBC), an inherited neurological disease (OMIM:173410). Genetic analysis of patients and families revealed at least 13 PDGFRB ... ...

    Abstract Platelet-derived growth factor receptor beta (PDGFRB) is one of the genes associated with primary familial brain calcification (PFBC), an inherited neurological disease (OMIM:173410). Genetic analysis of patients and families revealed at least 13 PDGFRB heterozygous missense variants, including two novel ones described in the present report. Limited experimental data published on five of these variants had suggested that they decrease the receptor activity. No functional information was available on the impact of variants located within the receptor extracellular domains. Here, we performed a comprehensive molecular analysis of PDGFRB variants linked to PFBC. Mutated receptors were transfected in various cell lines to monitor receptor expression, signaling, mitogenic activity and ligand binding. Four mutants caused a complete loss of tyrosine kinase activity in multiple assays. One of the novel variants, p.Pro154Ser, decreased the receptor expression and abolished binding of platelet-derived growth factor (PDGF-BB). Others showed a partial loss of function related to reduced expression or signaling. Combining clinical, genetic and molecular data, we consider nine variants as pathogenic or likely pathogenic, three as benign or likely benign and one as a variant of unknown significance. We discuss the possible relationship between the variant residual activity, incomplete penetrance, brain calcification and neurological symptoms. In conclusion, we identified distinct molecular mechanisms whereby PDGFRB variants may result in a receptor loss of function. This work will facilitate genetic counseling in PFBC.
    MeSH term(s) Brain/metabolism ; Brain Diseases/pathology ; Calcinosis/genetics ; Calcinosis/metabolism ; Heterozygote ; Humans ; Mutation ; Neurodegenerative Diseases/metabolism ; Receptor, Platelet-Derived Growth Factor beta/genetics ; Receptor, Platelet-Derived Growth Factor beta/metabolism
    Chemical Substances PDGFRB protein, human (EC 2.7.10.1) ; Receptor, Platelet-Derived Growth Factor beta (EC 2.7.10.1)
    Language English
    Publishing date 2021-09-24
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddab258
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    In stock of ZB MED Cologne/Königswinter

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  10. Article: Excessive self-grooming, gene dysregulation and imbalance between the striosome and matrix compartments in the striatum of

    Ferhat, Allain-Thibeault / Verpy, Elisabeth / Biton, Anne / Forget, Benoît / De Chaumont, Fabrice / Mueller, Florian / Le Sourd, Anne-Marie / Coqueran, Sabrina / Schmitt, Julien / Rochefort, Christelle / Rondi-Reig, Laure / Leboucher, Aziliz / Boland, Anne / Fin, Bertrand / Deleuze, Jean-François / Boeckers, Tobias M / Ey, Elodie / Bourgeron, Thomas

    Frontiers in molecular neuroscience

    2023  Volume 16, Page(s) 1139118

    Abstract: Autism is characterized by atypical social communication and stereotyped behaviors. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are detected in 1-2% of patients with autism and intellectual disability, but the mechanisms ... ...

    Abstract Autism is characterized by atypical social communication and stereotyped behaviors. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are detected in 1-2% of patients with autism and intellectual disability, but the mechanisms underpinning the symptoms remain largely unknown. Here, we characterized the behavior of
    Language English
    Publishing date 2023-03-16
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2452967-9
    ISSN 1662-5099
    ISSN 1662-5099
    DOI 10.3389/fnmol.2023.1139118
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