المؤلفون: Fritzler, Marvin J., Bentow, Chelsea, Beretta, Lorenzo, Palterer, Boaz, Perurena-Prieto, Janire, Sanz-Martínez, María Teresa, Guillén-Del-Castillo, Alfredo, Marín-Sánchez, Ana, Fonollosa Pla, Vicent, Callejas Moraga, Eduardo Luis, Simeón-Aznar, Carmen Pilar, Mahler, Michael, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Autoantibodies, Interstitial lung disease, SSc, Systemic sclerosis, U11/U12

وصف الملف: application/pdf

Relation: Diagnostics; Vol. 13 (march 2023); https://ddd.uab.cat/record/281678; urn:10.3390/diagnostics13071257; urn:oai:ddd.uab.cat:281678; urn:pmcid:PMC10093660; urn:pmc-uid:10093660; urn:oai:pubmedcentral.nih.gov:10093660; urn:pmid:37046475; urn:oai:egreta.uab.cat:publications/9ac68db9-0c5e-4a16-91a1-f16d9a3ec5b3

الاتاحة: https://ddd.uab.cat/record/281678

المؤلفون: Marvin J. Fritzler, Chelsea Bentow, Lorenzo Beretta, Boaz Palterer, Janire Perurena-Prieto, Maria Teresa Sanz-Martínez, Alfredo Guillen-Del-Castillo, Ana Marín, Vicent Fonollosa-Pla, Eduardo Callejas-Moraga, Carmen Pilar Simeón-Aznar, Michael Mahler

المصدر: Diagnostics; Volume 13; Issue 7; Pages: 1257

مصطلحات موضوعية: systemic sclerosis, U11/U12, autoantibodies, interstitial lung disease, SSc

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics13071257

الاتاحة: https://doi.org/10.3390/diagnostics13071257

المؤلفون: Norppa, Antto J., Kauppala, Tuuli M., Heikkinen, Harri A., Verma, Bhupendra, Iwai, Hideo, Frilander, Mikko J.

المساهمون: Institute of Biotechnology, Minor spliceosome

مصطلحات موضوعية: minor spliceosome, U11/U12 di-snRNP, U11/U12-65K, RNA-protein interactions, RNA recognition motif, PRE-MESSENGER-RNA, MINOR SPLICEOSOME FUNCTION, DISORDER MOPD I, AT-AC INTRON, NMR-SPECTROSCOPY, DEVELOPMENTAL DISORDER, NUCLEAR RIBONUCLEOPROTEINS, U12-DEPENDENT INTRONS, BACKBONE DYNAMICS, U12-TYPE INTRONS, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: This work was supported by the Academy of Finland (grants 140087 and 308657 to M.J.F., grant 278798 to B.V., and grant 277335 to H.I.), Biocentrum Helsinki (M.J.F.), Biocenter Finland (H.I.), and Sigrid Juselius Foundation (M.J.F., H.I.). A.J.N. was supported by the Integrative Life Science doctoral program at the University of Helsinki. The NMR facility at the Institute of Biotechnology is supported by Biocenter Finland and HiLIFE.; Norppa , A J , Kauppala , T M , Heikkinen , H A , Verma , B , Iwai , H & Frilander , M J 2018 , ' Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA ' , RNA , vol. 24 , no. 3 , pp. 396-409 . https://doi.org/10.1261/rna.062844.117; ORCID: /0000-0001-7376-5264/work/47602975; ORCID: /0000-0002-1732-4808/work/47604393; ORCID: /0000-0002-0240-6528/work/47607107; ORCID: /0000-0001-7712-3218/work/47607122; http://hdl.handle.net/10138/298261; 8ae44e3a-671e-4546-adc7-85e0601ddb68; 85042073479; 000425334000014

الاتاحة: http://hdl.handle.net/10138/298261

المؤلفون: Bhupendra Verma, Tuuli M. Kauppala, Harri August Heikkinen, Hideo Iwaï, Mikko J. Frilander, Antto J. Norppa

المساهمون: Institute of Biotechnology, Minor spliceosome

المصدر: RNA (New York, N.Y.). 24(3)

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Threonine, Proline, MINOR SPLICEOSOME FUNCTION, Nonsense mutation, Mutation, Missense, Biology, medicine.disease_cause, Article, U12-DEPENDENT INTRONS, 03 medical and health sciences, DEVELOPMENTAL DISORDER, Minor spliceosome, AT-AC INTRON, RNA, Small Nuclear, medicine, U12-TYPE INTRONS, Missense mutation, Humans, U11/U12-65K, Dwarfism, Pituitary, Molecular Biology, Mutation, NUCLEAR RIBONUCLEOPROTEINS, PRE-MESSENGER-RNA, Intron, Nuclear Proteins, RNA-Binding Proteins, RNA-protein interactions, Ribonucleoproteins, Small Nuclear, Growth hormone secretion, Introns, Cell biology, Nonsense Mediated mRNA Decay, minor spliceosome, 030104 developmental biology, DISORDER MOPD I, Codon, Nonsense, NMR-SPECTROSCOPY, RNA splicing, RNA-Binding Motifs, Spliceosomes, IGHD, RNA recognition motif, BACKBONE DYNAMICS, 1182 Biochemistry, cell and molecular biology, U11/U12 di-snRNP, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a2b2e609492503d263623ccc923a32
https://pubmed.ncbi.nlm.nih.gov/29255062