نتائج البحث - "Wyatt W, Yue"

1

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

المؤلفون: Brendan J. Battersby, Julie Richer, Leigh A M Demain, William G. Newman, Inna A. Belyantseva, Meredith K. Gillespie, Stephanie Oerum, Jill E. Urquhart, Thomas B. Friedman, James O'Sullivan, Alessandro Rea, Agatha Schlüter, Simon G. Williams, Hugh J. McMillan, Kevin J. Munro, Albert Amberger, Waheeda Pagarkar, Melanie Barzik, Kyle Thompson, Walter Rossmanith, Agustí Rodríguez-Palmero, Irit Hochberg, Sanjeev S. Bhaskar, Reeya Motha, Raymond T. O'Keefe, Zeev Blumenfeld, Pilar Quijada-Fraile, Edgard Verdura, Wyatt W. Yue, Johannes Zschocke, Sandra Demetz, Andrea J. Deutschmann, Aurora Pujol, Jessica L. Zambonin, Glenda M. Beaman, Isabella R. Lawrence, Kah Ying Ng, Sergey Yalonetsky, Emma M. Jenkinson, Robert W. Taylor

المساهمون: Institute of Biotechnology, Biosciences

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Hochberg, I, Demain, L, Richer, J, Thompson, K, Urquhart, J, Rea, A, Pagarkar, W, Rodriguez-Palmero, A, Beaman, G, O'Sullivan, J, Williams, S, Bhaskar, S, O'Keefe, R, Newman, W & Munro, K 2021, ' Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations ', American Journal of Human Genetics, vol. 108, no. 11, pp. 2195-2204 . https://doi.org/10.1016/j.ajhg.2021.10.002Test
American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

مصطلحات موضوعية: Male, leukodystrophy, RNA, Mitochondrial, Ribonuclease P/genetics, Mitochondrion, sensorineural hearing loss, RNase P, 0302 clinical medicine, RNA, Transfer, MRPP3, PRORP, Mitochondrial tRNA processing, Genetics (clinical), Genetics, 0303 health sciences, 1184 Genetics, developmental biology, physiology, mitochondria, Genetic Pleiotropy, Phenotype, Perrault syndrome, Pedigree, Rare diseases, Mitochondria, Sensorineural hearing loss, Female, Malalties rares, RNA, Transfer/genetics, Adult, Mitochondrial RNA processing, Protein subunit, rare disease, Primary ovarian insufficiency, Biology, Ovary diseases, Ribonuclease P, 03 medical and health sciences, Report, Complementary DNA, Humans, Allele, Alleles, 030304 developmental biology, Malalties de l'ovari, MUTATIONS, primary ovarian insufficiency, Leukodystrophy, HSD10 DISEASE, MODEL, RNA, Mitochondrial/genetics, Mitochondria/enzymology, Rare disease, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::241fe6274c9c1aa9800aa3fa346a2bb1Test
https://ddd.uab.cat/record/250495Test

2

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease

المؤلفون: Fatma Taha, Daniel Weghuber, Johannes A. Mayr, Johannes Spenger, Elaina M. Maldonado, Florence van den Broek, Wyatt W. Yue, Saskia B. Wortmann, Simon Heales, Zdenek Jaros, Brigitte Meunier, Lamia Mestek-Boukhibar, Shamima Rahman, James Davison, Emma Clement

المساهمون: Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Biogenèse et fonctionnement des complexes OXPHOS mitochondriaux (BIOMIT), Département Biologie Cellulaire (BioCell), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2020, 106, pp.256-263. ⟨10.1016/j.ajhg.2020.01.005⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.256-263. ⟨10.1016/j.ajhg.2020.01.005⟩
Am. J. Hum. Genet. 106, 256-263 (2020)
Am J Hum Genet

مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Microcytic anemia, [SDV]Life Sciences [q-bio], rapid genome sequencing, Sequence Homology, 0302 clinical medicine, Cerebellum, cyclic FMN, Phosphorylation, innate immunity, Genetics (clinical), Exome sequencing, 2. Zero hunger, Genetics, Homozygote, Galactosemia, Pedigree, 3. Good health, developmental delay, Phosphotransferases (Alcohol Group Acceptor), Phenotype, Child, Preschool, Lactic acidosis, cataracts, Female, Phosphorus-Oxygen Lyases, TKFC, Biology, Nervous System Malformations, Cyclase, Cataract, 03 medical and health sciences, Report, Exome Sequencing, medicine, inborn error of metabolism, Humans, Phosphofructokinase 2, Amino Acid Sequence, Kinase activity, Alleles, Cardiomyopathy, Cataracts, Cyclic Fmn, Developmental Delay, Fructose Metabolism, Inborn Error Of Metabolism, Innate Immunity, Rapid Genome Sequencing, Tkfc, Triokinase, Infant, medicine.disease, triokinase, fructose metabolism, 030104 developmental biology, Inborn error of metabolism, Mutation, cardiomyopathy, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a704de9174a9612ac3e1dd7437d847fTest
https://hal.science/hal-02464288/documentTest

3

A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease

المؤلفون: Peixiang Wang, Wyatt W. Yue, Or Kakhlon, Hanoch Senderowitz, Netaly Khazanov, Igor M. Ferreira, Leonardo J. Solmesky, Alexander Lossos, Miguel Weil, Berge A. Minassian

المصدر: Biochemical Journal. 474:3403-3420

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1086baab83b2e045a92bb09570398a7bTest
https://doi.org/10.1042/bcj20170469Test

4

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

المؤلفون: Michael A. Swanson, Vijay Kumar, Wyatt W. Yue, Marisa W. Friederich, Johan L.K. Van Hove, Curtis R. Coughlin, Michael F. Wempe, Amit Kumar, Keith Hyland, Yu J. Choi

المصدر: Journal of inherited metabolic disease. 42(3)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feaa7fbbe5d80b22808111f12bb1b544Test
https://pubmed.ncbi.nlm.nih.gov/30663059Test

5

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

المساهمون: Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Clinical Genetics

المصدر: American Journal of Human Genetics, 101(3), 466-477. Cell Press
American Journal of Human Genetics, 101, 466-477
Reijners, M, Mohamad Ansor, N, Kousi, M, Yue, W, Tan, P, Clarkson, K, Clayton-Smith, J, Corning, K, Jones, J, Lam, W, Mancini, G, Marcelis, C, Mohammed, S, Pfundt, R, Roifman, M, Cohn, R, Chiayat, D, Millard, T, Katsanis, N, Brunner, H & Banka, S 2017, ' RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes ', American Journal of Human Genetics, vol. 101, no. 3, pp. 466-477 . https://doi.org/10.1016/j.ajhg.2017.08.007Test
American Journal of Human Genetics, 101, 3, pp. 466-477

مصطلحات موضوعية: Male, rac1 GTP-Binding Protein, 0301 basic medicine, Microcephaly, Embryo, Nonmammalian, INTELLECTUAL DISABILITY, Developmental Disabilities, VARIANTS, Mice, 0302 clinical medicine, Missense mutation, Child, Zebrafish, Genetics (clinical), Genetics, Brain Diseases, biology, RHO GTPASES, CDC42, Phenotype, Pedigree, FAMILY, Child, Preschool, SURVIVAL, GROWTH, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], EXPRESSION, Adolescent, In silico, Mutation, Missense, Context (language use), 03 medical and health sciences, Report, medicine, Animals, Humans, Amino Acid Sequence, Allele, Gene, SPECTRUM, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Infant, biology.organism_classification, medicine.disease, 030104 developmental biology, 030217 neurology & neurosurgery, SYSTEM