Search Results - "Otros calificadores::Otros calificadores::Otros calificadores::/genética"

The role of miR-150-5p/E2F3/survivin axis in the pathogenesis of plasmablastic lymphoma and its therapeutic potential

Authors: Miriam Verdú-Bou Maria Joao Baptista Marcelo Lima Ribeiro et al.

Contributors: Miriam Verdú-Bou Maria Joao Baptista Marcelo Lima Ribeiro et al.

Source: Blood Adv
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
instname
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut

Subject Terms: MicroARN, B cells, Other subheadings::Other subheadings::Other subheadings::/genetics, COMPUESTOS QUÍMICOS Y DROGAS::nucleótidos y nucleósidos de ácidos nucleicos::elementos antisentido (genética)::ARN antiparalelo::microARN, Lymphoid Neoplasia, Cèl·lules B, Limfomes - Aspectes genètics, COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::péptidos::péptidos y proteínas de señalización intracelular::proteínas reguladoras de la apoptosis::proteínas inhibidoras de la apoptosis::survivina, ENFERMEDADES::neoplasias::neoplasias por tipo histológico::linfoma::linfoma no Hodgkin::linfoma de células B::linfoma de células B grandes difuso::linfoma plasmablástico, Tumor suppressor protein, CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Apoptosis Regulatory Proteins::Inhibitor of Apoptosis Proteins::Survivin, Otros calificadores::Otros calificadores::Otros calificadores::/genética, CHEMICALS AND DRUGS::Nucleic Acids, Nucleotides, and Nucleosides::Antisense Elements (Genetics)::RNA, Antisense::MicroRNAs, ENFERMEDADES::neoplasias::neoplasias por tipo histológico::linfoma::linfoma no Hodgkin::linfoma de células B, DISEASES::Neoplasms::Neoplasms by Histologic Type::Lymphoma::Lymphoma, Non-Hodgkin::Lymphoma, B-Cell, DISEASES::Neoplasms::Neoplasms by Histologic Type::Lymphoma::Lymphoma, Non-Hodgkin::Lymphoma, B-Cell::Lymphoma, Large B-Cell, Diffuse::Plasmablastic Lymphoma, Proteïnes supressores de tumors, Cèl·lules B - Tumors - Aspectes genètics

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/40203244
https://hdl.handle.net/2445/222390
http://hdl.handle.net/11351/13368

Prognostic Models From Transcriptomic Signatures of the Tumor Microenvironment and Cell Cycle in Stage III Colon Cancer From PETACC-8 and IDEA-France Trials

Authors: Gallois, Claire Sroussi, Marine André, Thierry et al.

Contributors: Gallois, Claire Sroussi, Marine André, Thierry et al.

Source: J Clin Oncol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Male, DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms::Colonic Neoplasms, Other subheadings::Other subheadings::Other subheadings::/genetics, FENÓMENOS Y PROCESOS::fenómenos genéticos::expresión génica::transcripción genética::fenómenos genéticos::transcriptoma, [SDV]Life Sciences [q-bio], Còlon - Càncer - Aspectes genètics, Biocartis, Transcriptomes, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales::neoplasias del colon, DISEASES::Neoplasms::Neoplastic Processes::Neoplasm Recurrence, Local, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Tumor Microenvironment, Biomarkers, Tumor, Humans, Roche, Neoplasm Staging, Aged, Royalties, Expenses: Roche, Other Intellectual Property: Inventor of mir31-3p license to IntegraGen Travel, Merck, Gene Expression Profiling, Cell Cycle, AstraZeneca, PHENOMENA AND PROCESSES::Genetic Phenomena::Gene Expression::Transcription, Genetic::Genetic Phenomena::Transcriptome, ORIGINAL REPORTS, Bristol Myers Squibb, Middle Aged, Prognosis, Amgen, Boehringer Ingelheim Patents, [SDV] Life Sciences [q-bio], Còlon - Càncer - Prognosi, Accommodations, Còlon - Càncer - Recaiguda, MSD Oncology Consulting or Advisory Role: Merck, ENFERMEDADES::neoplasias::procesos neoplásicos::recurrencia neoplásica local, Colonic Neoplasms, Female, France, Neoplasm Recurrence, Local, Transcriptome, Sanofi

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39889251
http://hdl.handle.net/11351/13348
https://hal.science/hal-04955616v1
https://hal.science/hal-04955616v1/document
https://doi.org/10.1200/jco.23.02262

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Authors: Stephanie Efthymiou Cailyn P. Leo Chenghong Deng et al.

Contributors: Stephanie Efthymiou Cailyn P. Leo Chenghong Deng et al.

Source: Am J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Efthymiou, S, Leo, C P, Deng, C, Lin, S-J, Maroofian, R, Lin, R, Karagoz, I, Zhang, K, Kaiyrzhanov, R, Scardamaglia, A, Owrang, D, Turchetti, V, Jahnke, F, Huang, K, Petree, C, Derrick, A V, Rees, M I, Alvi, J R, Sultan, T, Li, C, Jacquemont, M-L, Tran-Mau-Them, F, Valenzuela-Palafoll, M, Sidlow, R, Yoon, G, Morrow, M M, Carere, D A, O'Connor, M, Fleischer, J, Gerkes, E H, Phornphutkul, C, Isidor, B, Rivier-Ringenbach, C, Philippe, C, Kurul, S H, Soydemir, D, Kara, B, Sunnetci-Akkoyunlu, D, Bothe, V, Platzer, K, Wieczorek, D, Koch-Hogrebe, M, Rahner, N, Thuresson, A-C, Matsson, H, Frykholm, C, Bozdoğan, S T, Bisgin, A, Chatron, N, Lesca, G, Cabet, S, Tümer, Z, Hjortshøj, T D, Rønde, G, Marquardt, T, Reunert, J, Afzal, E, Zamani, M, Azizimalamiri, R, Galehdari, H, Nourbakhsh, P, Chamanrou, N, Chung, S-K, Suri, M, Benke, P J, Zaki, M S, Gleeson, J G, Calame, D G, Pehlivan, D, Yilmaz, H I, Gezdirici, A, Rad, A, Abumansour, I S, Oprea, G, Bereketoğlu, M B, Banneau, G, Julia, S, Zeighami, J, Ashoori, S, Shariati, G, Sedaghat, A, Sabri, A, Hamid, M, Parvas, S, Tajudin, T A, Abdullah, U, Baig, S M, Chung, W K, Glazunova, O O, Sabine, S, Cheema, H A, Zifarelli, G, Bauer, P, Sidpra, J, Mankad, K, Vona, B, Fry, A E, Varshney, G K, Houlden, H & Fu, D 2025, ' Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder ', American Journal of Human Genetics, vol. 112, no. 5, pp. 1117-1138 . https://doi.org/10.1016/j.ajhg.2025.03.015

Subject Terms: Male, Other subheadings::Other subheadings::Other subheadings::/genetics, Adolescent, Peix zebra, Cell- och molekylärbiologi, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, ORGANISMOS::Eukaryota::animales::Chordata::vertebrados::peces::Cipriniformes::Cyprinidae::pez cebra, ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, Article, Medical Genetics and Genomics, FENÓMENOS Y PROCESOS::fenómenos genéticos::estructuras genéticas::genoma::componentes genómicos::genes::alelos, RNA, Transfer, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Intellectual Disability, ORGANISMS::Eukaryota::Animals::Chordata::Vertebrates::Fishes::Cypriniformes::Cyprinidae::Zebrafish, Humans, Animals, RNA Processing, Post-Transcriptional, Child, Zebrafish, Alleles, tRNA Methyltransferases, Discapacitat intel·lectual - Aspectes genètics, disease model, Neurosciences, zebrafish, neurodevelopmental disorder, Medicinsk genetik och genomik, CHEMICALS AND DRUGS::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Transfer, COMPUESTOS QUÍMICOS Y DROGAS::nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ARN::ARN de transferencia, intellectual disability, Neurodevelopmental Disorders, Child, Preschool, TRMT1, RNA, Female, tRNA modification, Trastorns del desenvolupament - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles, Neurovetenskaper, Cell and Molecular Biology, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/40245862
http://hdl.handle.net/11351/13177
https://avesis.kocaeli.edu.tr/publication/details/aa7afc7e-34dc-4173-b698-617d6da7cb61/oai
https://cronfa.swan.ac.uk/Record/cronfa69406/Download/69406__34168__968ddcf0ddc14e3aafccddf19ff57aeb.pdf
https://resolver.sub.uni-goettingen.de/purl?gro-2/149156
https://curis.ku.dk/ws/files/451258628/1-s2.0-S0002929725001363-main.pdf
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-558965

Actionable NSCLC Mutation Identification by Comprehensive Genomic Profiling for Clinical Trial Enrollment: The European Program for the Routine Testing of Patients With Advanced Lung Cancer (EPROPA)

Authors: Passiglia, Francesco Listì, Angela Bironzo, Paolo et al.

Contributors: Passiglia, Francesco Listì, Angela Bironzo, Paolo et al.

Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Male, Adult, Other subheadings::Other subheadings::Other subheadings::/genetics, Lung Neoplasms, biomarker testing, Pulmons - Càncer - Aspectes genètics, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::medicina de precisión, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Carcinoma, Non-Small-Cell Lung, Humans, Medicina personalitzada, Aged, Aged, 80 and over, advocacy, clinical trials, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Clinical Trials as Topic, Precision medicine, Middle Aged, targeted therapy, DISEASES::Neoplasms::Neoplasms by Site::Thoracic Neoplasms::Respiratory Tract Neoplasms::Lung Neoplasms::Bronchial Neoplasms::Carcinoma, Bronchogenic::Carcinoma, Non-Small-Cell Lung, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias torácicas::neoplasias del tracto respiratorio::neoplasias pulmonares::neoplasias de los bronquios::carcinoma broncogénico::carcinoma de pulmón de células no pequeñas, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Precision Medicine, Europe, lung cancer, Anomalies cromosòmiques, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, Female

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39694416
http://hdl.handle.net/11351/13106
https://hdl.handle.net/11588/992612
https://hdl.handle.net/2318/2043713
https://doi.org/10.1016/j.jtho.2024.12.010

Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes

Authors: Carlota Arenillas Lucía Celada José Ruiz-Cantador et al.

Contributors: Carlota Arenillas Lucía Celada José Ruiz-Cantador et al.

Source: Cancer Discov
Cancer discovery
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Other subheadings::Other subheadings::Other subheadings::/genetics, Altitude, Anoxèmia, Adaptació (Fisiologia), Càncer - Aspectes genètics, Adaptation, Physiological, DISEASES::Neoplasms, PHENOMENA AND PROCESSES::Biological Phenomena::Adaptation, Biological::Adaptation, Physiological, ENFERMEDADES::neoplasias, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Neoplasms, Altituds, FENÓMENOS Y PROCESOS::fenómenos biológicos::adaptación biológica::adaptación fisiológica, Humans, FENÓMENOS Y PROCESOS::fenómenos biológicos::fenómenos ecológicos y ambientales::ambiente::altitud, DISEASES::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Signs and Symptoms, Respiratory::Hypoxia, Hypoxia, PHENOMENA AND PROCESSES::Biological Phenomena::Ecological and Environmental Phenomena::Environment::Altitude, Research Articles, ENFERMEDADES::afecciones patológicas, signos y síntomas::signos y síntomas::signos y síntomas respiratorios::hipoxia

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/40199338
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=22570
http://hdl.handle.net/11351/13110

Different Mutational Profiles of Subcutaneous Panniculitis-like T-cell Lymphoma and Lupus Panniculitis: An Additional Case Series

Authors: Machan S Rodríguez M Manso R et al.

Contributors: Machan S Rodríguez M Manso R et al.

Source: Actas Dermo-Sifiliograficas
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut

Subject Terms: FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Linfoma de células T tipo paniculitis subcutánea, Other subheadings::Other subheadings::Other subheadings::/genetics, DISEASES::Skin and Connective Tissue Diseases::Connective Tissue Diseases::Lupus Erythematosus, Cutaneous::Lupus Erythematosus, Discoid::Panniculitis, Lupus Erythematosus, Malalties autoimmunitàries, Lupus-paniculitis, Cèl·lules T - Tumors, ENFERMEDADES::enfermedades de la piel y tejido conjuntivo::enfermedades del tejido conjuntivo::lupus eritematoso cutáneo::lupus eritematoso discoide::paniculitis de lupus eritematoso, Secuenciación de próxima generación, Anomalies cromosòmiques, Lupus eritematós, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Subcutaneous panniculitis-like T-cell lymphoma, ENFERMEDADES::neoplasias::neoplasias por tipo histológico::linfoma::linfoma no Hodgkin::linfoma de células T, Lupus panniculitis, Next-generation sequencing, DNMT3A, TP53, DISEASES::Neoplasms::Neoplasms by Histologic Type::Lymphoma::Lymphoma, Non-Hodgkin::Lymphoma, T-Cell, HAVCR2

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39566728
https://pubmed.ncbi.nlm.nih.gov/39032781
https://incliva.fundanetsuite.com/publicaciones/ProdCientif/PublicacionFrw.aspx?id=19082
http://hdl.handle.net/11351/12775

Multiple phenotypes and epigenetic profiles in a three-generation family history with GATA2 deficiency

Authors: Damia Romero-Moya Joan Pera Oskar Marin-Bejar et al.

Contributors: Damia Romero-Moya Joan Pera Oskar Marin-Bejar et al.

Source: Leukemia
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Articles publicats en revistes (Patologia i Terapèutica Experimental)
Dipòsit Digital de la UB
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)

Subject Terms: DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases, Other subheadings::Other subheadings::Other subheadings::/genetics, Letter, Malalties immunològiques - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genotype, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::deficiencia de GATA2, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, FENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Genotip, ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad, Mutació (Biologia), Proteins, Mutation (Biology), DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::GATA2 Deficiency, Epigenètica, DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease, Fenotip, Anomalies cromosòmiques, Sang - Malalties - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Epigenetics, Malalties congènites, Proteïnes

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39890964
http://hdl.handle.net/11351/12966
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=23164
https://hdl.handle.net/2445/218994
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=15597

Natural history of SGCE‐associated myoclonus dystonia in children and adolescents

Authors: Valeria De Francesch Ana Cazurro‐Gutiérrez Elze R. Timmers et al.

Contributors: Valeria De Francesch Ana Cazurro‐Gutiérrez Elze R. Timmers et al.

Source: Dev Med Child Neurol
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Other subheadings::Other subheadings::Other subheadings::/genetics, NAMED GROUPS::Persons::Age Groups::Child, Distonia - Prognosi, DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::adolescente, Adolescents, DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::niño, Distonia - Aspectes genètics, 03 medical and health sciences, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Movement Disorders::Dystonic Disorders, ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::progresión de la enfermedad, 0302 clinical medicine, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::trastornos del movimiento::trastornos distónicos, NAMED GROUPS::Persons::Age Groups::Adolescent, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Original Article, Infants, DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Progression

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39679832
http://hdl.handle.net/11351/13096
https://research.rug.nl/en/publications/58921c0a-3de3-4138-b6d8-399769d71318
https://hdl.handle.net/11370/58921c0a-3de3-4138-b6d8-399769d71318
https://doi.org/10.1111/dmcn.16214

Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing

Authors: Rowlands, CF Allen, S Balmaña, J et al.

Contributors: Rowlands, CF Allen, S Balmaña, J et al.

Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Annals of Oncology, 35, 10, pp. 892-901
Allen, S, Balmaña, J, Domchek, S M, Evans, D G, Hoogerbrugge, N, Nathanson, K L, Tischkowitz, M, Foulkes, W D & Turnbull, C 2024, 'Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 35, no. 10, pp. 892-901. https://doi.org/10.1016/j.annonc.2024.07.244

Subject Terms: Other subheadings::Other subheadings::Other subheadings::/genetics, Ubiquitin-Protein Ligases, Breast Neoplasms, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms/genetics, Checkpoint Kinase 2/genetics, breast cancer, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, Ataxia Telangiectasia Mutated Proteins/genetics, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Humans, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases/genetics, Genetic Testing, Germ-Line Mutation, Genetic Association Studies, BRCA2 Protein, BRCA1 Protein, Tumor Suppressor Proteins, mainstream genetic testing, Cromosomes humans - Anomalies - Diagnòstic, Fanconi Anemia Complementation Group N Protein/genetics, BRCA2 Protein/genetics, 3. Good health, DNA-Binding Proteins, Meta-analysis, Checkpoint Kinase 2, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas, Case-Control Studies, multi-gene panel testing, BRCA1 Protein/genetics, Mama - Càncer - Aspectes genètics, Human Genetics - Radboud University Medical Center, Female, Fanconi Anemia Complementation Group N Protein, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, case-control, DNA-Binding Proteins/genetics, Genetic Testing/methods, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms

File Description: application/pdf; Print-Electronic

Access URL: https://pubmed.ncbi.nlm.nih.gov/38986768
https://hdl.handle.net/11351/11965
https://research.manchester.ac.uk/en/publications/590e571d-7ad9-4fb3-b723-57aaa7277a35
https://doi.org/10.1016/j.annonc.2024.07.244
https://repository.ubn.ru.nl/handle/2066/310405
https://repository.ubn.ru.nl//bitstream/handle/2066/310405/310405.pdf
https://research.manchester.ac.uk/en/publications/590e571d-7ad9-4fb3-b723-57aaa7277a35
http://www.scopus.com/inward/record.url?scp=85201586788&partnerID=8YFLogxK
https://doi.org/10.1016/j.annonc.2024.07.244

ERK1/2 mitogen‐activated protein kinase dimerization is essential for the regulation of cell motility

Authors: Dalia de la Fuente‐Vivas Vincenzo Cappitelli Rocío García‐Gómez et al.

Contributors: Dalia de la Fuente‐Vivas Vincenzo Cappitelli Rocío García‐Gómez et al.

Source: Mol Oncol
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Molecular Oncology, Vol 19, Iss 2, Pp 452-473 (2025)

Subject Terms: Other subheadings::Other subheadings::Other subheadings::/genetics, CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Amino Acids, Peptides, and Proteins::Proteins::Intracellular Signaling Peptides and Proteins::Mitogen-Activated Protein Kinases::Extracellular Signal-Regulated MAP Kinases::Mitogen-Activated Protein Kinase 1, KSR, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Cell motility, cell motility, Cèl·lules - Motilitat, FENÓMENOS Y PROCESOS::fenómenos fisiológicos celulares::movimiento celular, PHENOMENA AND PROCESSES::Cell Physiological Phenomena::Cell Movement, ERK, scaffold proteins, COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::aminoácidos, péptidos y proteínas::proteínas::péptidos y proteínas de señalización intracelular::proteínas cinasas activadas por mitógenos::cinasas MAP reguladas por señales extracelulares::proteína cinasa activada por mitógenos 1, MAP kinases, Proteïnes quinases activades per mitògens, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Scaffold proteins, Mama - Càncer - Aspectes genètics, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, RC254-282, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms, Research Article

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39263917
http://hdl.handle.net/11351/12701
https://doaj.org/article/88947603665a4e1eae2593946fc70db4
https://hdl.handle.net/10902/36664

Determinants of Metastatic Colorectal Cancer With Permanent Liver- Limited Disease

Authors: Francesc Salvà Nadia Saoudi Marta Rodríguez et al.

Contributors: Francesc Salvà Nadia Saoudi Marta Rodríguez et al.

Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Other subheadings::Other subheadings::Other subheadings::/genetics, Recte - Càncer - Aspectes genètics, Fetge - Càncer, DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms, DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Liver Neoplasms, Liver Neoplasms, Còlon - Càncer - Aspectes genètics, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias hepáticas, Liver Transplantation, DISEASES::Neoplasms::Neoplastic Processes::Neoplasm Metastasis, Metàstasi, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Humans, ENFERMEDADES::neoplasias::procesos neoplásicos::metástasis neoplásica, Colorectal Neoplasms

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38981843
https://hdl.handle.net/11351/11955

Impact of hormone receptor status and tumor subtypes of breast cancer in young BRCA carriers

Authors: L. Arecco M. Bruzzone R. Bas et al.

Contributors: L. Arecco M. Bruzzone R. Bas et al.

Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Adult, Mama - Càncer - Prognosi, Heterozygote, Other subheadings::Other subheadings::Other subheadings::/genetics, Receptor, ErbB-2, Breast Neoplasms, Disease-Free Survival, Young Adult, BRCA, early breast cancer, hormone receptor status, tumor subtypes, young patients, FENÓMENOS Y PROCESOS::fenómenos genéticos::estructuras genéticas::genoma::componentes genómicos::genes::genes de neoplasias::genes supresores de tumores::genes BRCA1, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Biomarkers, Tumor, Humans, Germ-Line Mutation, Retrospective Studies, BRCA2 Protein, Gens del càncer, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, BRCA1 Protein, Prognosis, Anomalies cromosòmiques, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Genes, Neoplasm::Genes, Tumor Suppressor::Genes, BRCA1, Receptors, Estrogen, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mama - Càncer - Aspectes genètics, Female, Receptors, Progesterone, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38908482
https://hdl.handle.net/11351/11987
https://hdl.handle.net/2434/1115453
https://doi.org/10.1016/j.annonc.2024.06.009
https://hdl.handle.net/10281/500459
https://doi.org/10.1016/j.annonc.2024.06.009
https://hdl.handle.net/11380/1367654
https://doi.org/10.1016/j.annonc.2024.06.009
https://hdl.handle.net/11573/1716962
https://hdl.handle.net/11573/1721075
https://doi.org/10.1016/j.annonc.2024.06.009

Inferring disease course from differential exon usage in the wide titinopathy spectrum

Authors: Maria Francesca Di Feo Ali Oghabian Ella Nippala et al.

Contributors: Maria Francesca Di Feo Ali Oghabian Ella Nippala et al.

Source: Ann Clin Transl Neurol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Annals of Clinical and Translational Neurology, Vol 11, Iss 10, Pp 2745-2755 (2024)
Di Feo, M F, Oghabian, A, Nippala, E, Gautel, M, Jungbluth, H, Forzano, F, Malfatti, E, Castiglioni, C, Krey, I, Gomez Andres, D, Brady, A F, Iascone, M, Cereda, A, Pezzani, L, Natera De Benito, D, Nascimiento Osorio, A, Estévez Arias, B, Kurbatov, S A, Attie-Bitach, T, Nampoothiri, S, Ryan, E, Morrow, M, Gorokhova, S, Chabrol, B, Sinisalo, J, Tolppanen, H, Tolva, J, Munell, F, Camacho Soriano, J, Sanchez Duran, M A, Johari, M, Tajsharghi, H, Hackman, P, Udd, B & Savarese, M 2024, 'Inferring disease course from differential exon usage in the wide titinopathy spectrum', Annals of Clinical and Translational Neurology, vol. 11, no. 10, pp. 2745-2755. https://doi.org/10.1002/acn3.52189

Subject Terms: Male, Adult, 0301 basic medicine, Other subheadings::Other subheadings::Other subheadings::/genetics, Neurologi, Adolescent, ENFERMEDADES::enfermedades musculoesqueléticas::enfermedades musculares::trastornos musculares atróficos::distrofias musculares::miopatias distales, Bioinformatics and Computational Biology, Neurosciences. Biological psychiatry. Neuropsychiatry, [SDV.GEN] Life Sciences [q-bio]/Genetics, Medical Genetics and Genomics, Neurology and psychiatry, 03 medical and health sciences, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Humans, Connectin, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons, RC346-429, Muscle, Skeletal, Child, FENÓMENOS Y PROCESOS::fenómenos genéticos::estructuras genéticas::genoma::componentes genómicos::genes::componentes génicos::exones, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, 0303 health sciences, Neurosciences, Exons, DISEASES::Musculoskeletal Diseases::Muscular Diseases::Muscular Disorders, Atrophic::Muscular Dystrophies::Distal Myopathies, DISEASES::Musculoskeletal Diseases::Muscular Diseases, Medicinsk genetik och genomik, Anomalies cromosòmiques, Neurology, Bioinformatik och beräkningsbiologi, Músculs - Malalties - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, ENFERMEDADES::enfermedades musculoesqueléticas::enfermedades musculares, Child, Preschool, Mutation, Disease Progression, Female, Neurology. Diseases of the nervous system, RC321-571, Research Article

File Description: application/pdf; fulltext

Access URL: https://pubmed.ncbi.nlm.nih.gov/39198997
https://hdl.handle.net/11351/12580
https://doaj.org/article/56fcca32800d4caeb1e23bc0b7d6e783
http://hdl.handle.net/10138/585383
https://kclpure.kcl.ac.uk/ws/files/352658195/Inferring_disease_course_DI_FEO_Publishedonline28August2024_GOLD_VoR_CC_BY_.pdf
https://amu.hal.science/hal-04930450v1
https://amu.hal.science/hal-04930450v1/document
https://doi.org/10.1002/acn3.52189
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-24485

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

Authors: Westenberger, Ana Skrahina, Volha Usnich, Tatiana et al.

Contributors: Westenberger, Ana Skrahina, Volha Usnich, Tatiana et al.

Source: Brain
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
Brain, vol 147, iss 8

Subject Terms: Male, Genetic testing, Parkinson's disease, Genetic code, Gba1, GBA1, Protein Kinases/genetics, Cohort Studies, Malaltia de Parkinson, Otros calificadores::Otros calificadores::Otros calificadores::/genética, alpha-Synuclein/genetics, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/genetics, 10. No inequality, 11 Medical and Health Sciences, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Codi genètic, or still are employees of CENTOGENE GmbH. A.W. provides consultancy services, genetic factor, name=Clinical Neurology, LRRK2, Parkinson Disease, Cromosomes humans - Anomalies - Diagnòstic, Middle Aged, 16. Peace & justice, 17 Psychology and Cognitive Sciences, 3. Good health, around research projects for CENTOGENE GmbH. C.K. and N.B. are medical advisors, 52 Psychology, Glucosylceramidase/genetics, alpha-Synuclein, Parkinson, Malaltia de - Aspectes genètics, Glucosylceramidase, Parkinson Disease/genetics, Original Article, Female, Life Sciences & Biomedicine, Adult, Genetic factors, Other subheadings::Other subheadings::Other subheadings::/genetics, Ubiquitin-Protein Ligases, Clinical Neurology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, genetic testing, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, Genetic Testing/methods, Lrrk2, Humans, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases/genetics, Genetic Testing, genetic factors, next-generation sequencing, Aged, Science & Technology, Neurology & Neurosurgery, 42 Health sciences, to CENTOGENE GmbH. The other authors report no competing interests, Neurosciences, 32 Biomedical and clinical sciences, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson, Anomalies cromosòmiques, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, Next-generation sequencing, Human medicine, Neurosciences & Neurology, Protein Kinases

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39087914
https://hdl.handle.net/11351/12013
https://hdl.handle.net/2445/215720
https://hdl.handle.net/11588/971686
https://lirias.kuleuven.be/handle/20.500.12942/747583
https://doi.org/10.1093/brain/awae188
https://resolver.sub.uni-goettingen.de/purl?gro-2/145030
https://repository.uantwerpen.be/docstore/d:irua:24749
https://hdl.handle.net/10067/2072200151162165141
https://escholarship.org/content/qt4gx97158/qt4gx97158.pdf
https://escholarship.org/uc/item/4gx97158

Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions

Authors: Buffin-Meyer, B. nédicte Richard, Juliette Guigonis, Vincent et al.

Contributors: Buffin-Meyer, B. nédicte Richard, Juliette Guigonis, Vincent et al.

Source: Kidney Int Rep
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Kidney International Reports, Vol 9, Iss 8, Pp 2514-2526 (2024)
Kidney International Reports, 9, 8, pp. 2514-2526
Kidney international reports., New York : Elsevier, 2024, vol. 9, iss. 8, p. 2514-2526.

Subject Terms: PROGNOSIS, Other subheadings::Other subheadings::Other subheadings::/genetics, Nephrology - Radboud University Medical Center, Medizin, HNF1B variant study group, genotype-phenotype correlation, DISEASE, chronic kidney disease, HNF1B disease, outcome, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Translational Research, ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales, DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases, HEPATOCYTE NUCLEAR FACTOR-1-BETA, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Science & Technology, 42 Health sciences, 32 Biomedical and clinical sciences, Urology & Nephrology, Diseases of the genitourinary system. Urology, Ronyons - Malalties - Aspectes genètics, 3. Good health, Fenotip, HNF1B MUTATIONS, Anomalies cromosòmiques, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, [SHS] Humanities and Social Sciences, RC870-923, CLINICAL SPECTRUM, Life Sciences & Biomedicine

File Description: application/pdf; pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39156164
https://hdl.handle.net/11351/12166
https://doaj.org/article/e533139aeebc470cb7bb34b2d977986a
https://repository.ubn.ru.nl//bitstream/handle/2066/310473/310473.pdf
https://hdl.handle.net/2066/310473
https://repository.vu.lt/VU:ELABAPDB204840759&prefLang=en_US

Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature

Authors: Marta Araujo-Castro Jorge Gabriel Ruiz-Sánchez César Gonzalvo et al.

Contributors: Marta Araujo-Castro Jorge Gabriel Ruiz-Sánchez César Gonzalvo et al.

Source: J Clin Endocrinol Metab
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
RUIdeRA. Repositorio Institucional de la UCLM
Universidad de Castilla-La Mancha

Subject Terms: Clinical Research Article, Other subheadings::Other subheadings::Other subheadings::/genetics, Primary aldosteronism, DISEASES::Endocrine System Diseases::Adrenal Gland Diseases::Adrenocortical Hyperfunction::Hyperaldosteronism, Hiperaldosteronisme - Aspectes genètics, Cromosomes humans - Anomalies - Diagnòstic, Pathogenic variant, Genetic study, 3. Good health, 03 medical and health sciences, Plasma aldosterone concentration, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, 0302 clinical medicine, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas, Otros calificadores::Otros calificadores::Otros calificadores::/genética, ENFERMEDADES::enfermedades del sistema endocrino::enfermedades de las glándulas suprarrenales::hiperfunción corticosuprarrenal::hiperaldosteronismo, Familial hyperaldosteronism

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39058909
http://hdl.handle.net/11351/13174

Alcohol consumption and liver phenotype of individuals with alpha‐1 antitrypsin deficiency

Authors: Malin Fromme Carolin V. Schneider Nurdan Guldiken et al.

Contributors: Malin Fromme Carolin V. Schneider Nurdan Guldiken et al.

Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Liver international 44(10), 2660-2671 (2024). doi:10.1111/liv.16044

Subject Terms: Fetge - Malalties - Aspectes genètics, Male, Adult, 0301 basic medicine, Other subheadings::Other subheadings::Other subheadings::/genetics, Alcohol Drinking, Genotype, liver cirrhosis, Alfa 1-antitripsina, Alcohol Drinking/adverse effects, DISEASES::Digestive System Diseases::Liver Diseases::alpha 1-Antitrypsin Deficiency, Cohort Studies, 03 medical and health sciences, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, alpha 1-Antitrypsin Deficiency, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Humans, liver fibrosis, gamma-Glutamyltransferase/blood, Aged, ENFERMEDADES::enfermedades del sistema digestivo::enfermedades hepáticas::deficiencia de alfa 1-antitripsina, 0303 health sciences, FibroScan, alcohol, United Kingdom/epidemiology, Pi*Z, Transferrin, gamma-Glutamyltransferase, Middle Aged, United Kingdom, 3. Good health, alpha 1-Antitrypsin Deficiency/genetics, Fenotip, Europe, PSIQUIATRÍA Y PSICOLOGÍA::conducta y mecanismos de la conducta::conducta::conducta bebedora::consumo de alcohol, PSYCHIATRY AND PSYCHOLOGY::Behavior and Behavior Mechanisms::Behavior::Drinking Behavior::Alcohol Drinking, Phenotype, Liver, alpha 1-Antitrypsin/genetics, alpha 1-Antitrypsin, Transferrin/analysis, Consum d'alcohol, SERPINA1, Female, Liver/pathology

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39031304
https://hdl.handle.net/11351/12055
https://publications.rwth-aachen.de/record/991158

Characterization of the Mmalton carrier’s cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry

Authors: Ferraz, Beatriz D. Sucena, Maria Cardoso, Margarida Fonseca et al.

Contributors: Ferraz, Beatriz D. Sucena, Maria Cardoso, Margarida Fonseca et al.

Source: BMC Pulm Med
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
BMC Pulmonary Medicine, Vol 25, Iss 1, Pp 1-10 (2025)
Ferraz, B D, Sucena, M, Cardoso, M F, Turner, A M, Hernández-Pérez, J M, Torres-Duran, M, Tanash, H, Rodríguez-García, C, Jensen, J U, Corsico, A, López-Campos, J L, Chapman, K, Clarenbach, C F, Gomes, J, Miravitlles, M & Lara, B 2025, ' Characterization of the Mmalton carrier’s cohort within the EARCO (European Alpha-1 Antitrypsin Research Collaboration) registry ', BMC Pulmonary Medicine, vol. 25, no. 1, 187 . https://doi.org/10.1186/s12890-025-03651-8

Subject Terms: Male, Adult, Heterozygote, Other subheadings::Other subheadings::Other subheadings::/genetics, Pulmons - Càncer - Aspectes genètics, PI*Mmalton, Severity of Illness Index, Registres hospitalaris, Diseases of the respiratory system, Otros calificadores::Otros calificadores::Otros calificadores::/genética, alpha 1-Antitrypsin Deficiency, Forced Expiratory Volume, Prevalence, ENFERMEDADES::enfermedades respiratorias::enfermedades pulmonares::deficiencia de alfa 1-antitripsina, Humans, Registries, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries, Alleles, Aged, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, RC705-779, Research, Middle Aged, Alpha-1 antitrypsin, Europe, Anomalies cromosòmiques, Lung disease, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros, alpha 1-Antitrypsin, Mutation, Female, DISEASES::Respiratory Tract Diseases::Lung Diseases::alpha 1-Antitrypsin Deficiency

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/40269866
http://hdl.handle.net/11351/13219
http://hdl.handle.net/10261/391038
https://api.elsevier.com/content/abstract/scopus_id/105003175419
https://doaj.org/article/d02a7971631342f18fe370c08eba9500
https://curis.ku.dk/ws/files/448987719/s12890-025-03651-8.pdf

Correction: OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

Authors: Ali Oghabian Per Harald Jonson Swethaa Natraj Gayathri et al.

Contributors: Ali Oghabian Per Harald Jonson Swethaa Natraj Gayathri et al.

Source: Skelet Muscle
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Skeletal Muscle, Vol 15, Iss 1, Pp 1-8 (2025)

Subject Terms: Other subheadings::Other subheadings::Other subheadings::/genetics, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades neuromusculares, Diseases of the musculoskeletal system, FENÓMENOS Y PROCESOS::fenómenos genéticos::regulación de la expresión génica::regulación de la expresión génica en el desarrollo, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Regulació genètica, PHENOMENA AND PROCESSES::Genetic Phenomena::Gene Expression Regulation::RNA Processing, Post-Transcriptional::RNA Splicing::Alternative Splicing, Empalmament (Genètica), Infants nadons, Malalties neuromusculars - Aspectes genètics, FENÓMENOS Y PROCESOS::fenómenos fisiológicos::crecimiento y desarrollo::morfogénesis::desarrollo embrionario y fetal::organogénesis::desarrollo musculoesquelético::desarrollo muscular, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons, PHENOMENA AND PROCESSES::Physiological Phenomena::Growth and Development::Morphogenesis::Embryonic and Fetal Development::Organogenesis::Musculoskeletal Development::Muscle Development, FENÓMENOS Y PROCESOS::fenómenos genéticos::regulación de la expresión génica::procesamiento postranscripcional del ARN::empalme de ARN::empalme alternativo, FENÓMENOS Y PROCESOS::fenómenos genéticos::estructuras genéticas::genoma::componentes genómicos::genes::componentes génicos::exones, DISEASES::Nervous System Diseases::Neuromuscular Diseases, PHENOMENA AND PROCESSES::Genetic Phenomena::Gene Expression Regulation::Gene Expression Regulation, Developmental, Morfogènesi, Correction, Exons, ANATOMÍA::sistema musculoesquelético::músculos::miocardio, Miocardi, RC925-935, DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante::recién nacido, NAMED GROUPS::Persons::Age Groups::Infant::Infant, Newborn, ANATOMY::Musculoskeletal System::Muscles::Myocardium

File Description: application/pdf

Access URL: http://hdl.handle.net/11351/13091
https://doaj.org/article/00d01fc0a34446d4a898cce7dd79a8c6

Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation

Authors: Zhi Ming Xu Gnimah Eva Gnouamozi Sina Rüeger et al.

Contributors: Zhi Ming Xu Gnimah Eva Gnouamozi Sina Rüeger et al.

Source: Am J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
American journal of human genetics, vol. 111, no. 6, pp. 1018-1034

Subject Terms: Hepatitis B virus, Other subheadings::Other subheadings::Other subheadings::/genetics, FENÓMENOS Y PROCESOS::fenómenos genéticos::estructuras genéticas::genoma::genoma microbiano::genoma viral, PHENOMENA AND PROCESSES::Microbiological Phenomena::Host-Pathogen Interactions, Virus de l'hepatitis B - Aspectes genètics, Epitopes, T-Lymphocyte, Organic Anion Transporters, Sodium-Dependent, Genome, Viral, Article, Hepatitis B, Chronic, Microorganismes patògens, ORGANISMOS::virus::virus ADN::Hepadnaviridae::Orthohepadnavirus::virus de la hepatitis B, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Humans, Hepatitis B virus/genetics, Organic Anion Transporters, Sodium-Dependent/genetics, Organic Anion Transporters, Sodium-Dependent/metabolism, Symporters/genetics, Symporters/metabolism, Mutation, Host-Pathogen Interactions/genetics, Host-Pathogen Interactions/immunology, Hepatitis B, Chronic/virology, Hepatitis B, Chronic/genetics, Hepatitis B Surface Antigens/genetics, Epitopes, T-Lymphocyte/genetics, Epitopes, T-Lymphocyte/immunology, Genomics/methods, Histocompatibility Antigens Class I/genetics, Histocompatibility Antigens Class I/metabolism, HBV entry, escape variants, evolutionary genomics, hepatitis B virus, host-pathogen genomics, immunogenetics, selection, viral restriction, ORGANISMS::Viruses::DNA Viruses::Hepadnaviridae::Orthohepadnavirus::Hepatitis B virus, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Hepatitis B Surface Antigens, Symporters, Histocompatibility Antigens Class I, Genomes bacterians, Genomics, 3. Good health, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Structures::Genome::Genome, Microbial::Genome, Viral, Anomalies cromosòmiques, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, FENÓMENOS Y PROCESOS::fenómenos microbiológicos::interacciones huésped-patógeno, Host-Pathogen Interactions

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38749427
https://hdl.handle.net/11351/11578
https://serval.unil.ch/resource/serval:BIB_9CF13B4886CA.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9CF13B4886CA4
https://serval.unil.ch/notice/serval:BIB_9CF13B4886CA