المؤلفون: Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T

المساهمون: DEPT OF OTOLARYNGOLOGY

المصدر: Unpaywall 20201031

مصطلحات موضوعية: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase, ubiquitin protein ligase E3, unclassified drug, HACE1 protein, human, ubiquitin protein ligase, adolescent, adult, apraxia, Article, autosomal recessive disorder, autosomal recessive inheritance, chest infection, child, clinical article, cognitive defect, consanguinity, divergent strabismus, dystonic disorder, enzyme deficiency, epilepsy, exome, female, gait disorder, gene sequence, genetic variability, immobility, intellectual impairment, lordosis, loss of function mutation

العلاقة: Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T (2015). HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics 52 (12) : 797-803. ScholarBank@NUS Repository. https://doi.org/10.1136/jmedgenet-2015-103344Test; https://scholarbank.nus.edu.sg/handle/10635/180093Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2015-103344Test
https://scholarbank.nus.edu.sg/handle/10635/180093Test

المؤلفون: Eraslan, B., Wang, D., Gusic, M., Prokisch, H., Hallström, B.M., Uhlén, M., Asplund, A., Pontén, F., Wieland, T., Hopf, T., Hahne, H., Kuster, B., Gagneur, J.

المصدر: Molecular Systems Biology
Mol. Syst. Biol. 15:e8513 (2019)

مصطلحات موضوعية: Proteomics, Proteome, codon usage, Genome, Human, Sequence Analysis, RNA, Biochemistry and Molecular Biology, Proteins, translational control, Articles, Methods & Resources, Codon Usage, Mrna Sequence Motifs, Transcriptomics, Translational Control, RNA Biology, Mass Spectrometry, Article, transcriptomics, proteomics, Gene Expression Regulation, mRNA sequence motifs, Genome-Scale & Integrative Biology, Humans, Tissue Distribution, RNA, Messenger, Transcriptome, Biokemi och molekylärbiologi

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7c0f50c789be714a9276e44687852f8eTest
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-379280Test

المؤلفون: Dewenter, Matthias, Neef, Stefan, Vettel, Christiane, Lämmle, Simon, Beushausen, Christina, Zelarayan, Laura C., Katz, Sylvia, von der Lieth, Albert, Meyer-Roxlau, Stefanie, Weber, Silvio, Wieland, T, Sossalla, Samuel, Backs, Johannes, Brown, Joan Heller, Maier, Lars S., El-Armouche, Ali

مصطلحات موضوعية: Heart Failure, Disease Models, Animal, Mice, Echocardiography, Adrenergic beta-Antagonists, Immunoblotting, Animals, Humans, Mice, Transgenic, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Article, Metoprolol

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::21e64131d3d86bab3c4ac7fb10f99069Test
https://europepmc.org/articles/PMC5479434Test/

المؤلفون: Thomas Wieland, Massimo Zollo, Tien Hsu, Patricia S. Steeg

المساهمون: Hsu, T, Steeg, P, Zollo, Massimo, Wieland, T.

المصدر: Naunyn Schmiedebergs Arch Pharmacol

مصطلحات موضوعية: medicine.medical_specialty, nme2 protein, protein histidine kinase, Biology, Article, chemistry.chemical_compound, Internal medicine, Neoplasms, medicine, Gene family, Animals, Humans, Metastasis suppressor, Nucleotide, Gene, Pharmacology, chemistry.chemical_classification, Kinase, nucleoside diphosphate kinase, General Medicine, Nucleoside-diphosphate kinase, unclassified drug, Endocrinology, Enzyme, Biochemistry, chemistry, Cardiovascular Diseases, Nucleoside-Diphosphate Kinase, Models, Animal, Nucleoside triphosphate, caveolin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4a3ec4a739777d83c6c896acc41a698Test
https://pubmed.ncbi.nlm.nih.gov/25585611Test