المؤلفون: Nils W. F. Meijer, Johan Gerrits, Susan Zwakenberg, Fried J. T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J. M. Jans

المصدر: Metabolites, Vol 13, Iss 12, p 1196 (2023)

مصطلحات موضوعية: NADSYN1, de novo NAD+ synthesis pathway, NAD+ salvage pathway, Preiss–Handler pathway, NAD+ deficiency, glycolysis, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-1989/13/12/1196; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/9e00fe961e6c47efa16164d992d87e11

المؤلفون: Shangdan Xie, Mengying Jiang, Hejing Liu, Fang Xue, Xin Chen, Xueqiong Zhu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: vitamin D, uterine leiomyomas, single nucleotide polymorphisms, Dhcr7, NADSYN1, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.844684/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/64150c21f6914199840215b88f6c44e1

المؤلفون: Marin, Traci L, Gongol, Brendan, Martin, Marcy, King, Stephanie J, Smith, Lemar, Johnson, David A, Subramaniam, Shankar, Chien, Shu, Shyy, John Y-J

المصدر: BMC Systems Biology. 9(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, AMP-Activated Protein Kinases, Animals, Biological Transport, Calcium, Cell Cycle, Chromatin, Circadian Rhythm, Consensus Sequence, Endoplasmic Reticulum Stress, Enzyme Activation, Epigenesis, Genetic, Glucose, Homeostasis, Humans, Insulin, Mice, Organelle Biogenesis, Phosphorylation, Protein Binding, Protein Folding, Proteomics, RNA, Messenger, Ribosomes, Signal Transduction, Software, Systems Biology, Transcriptional Activation, AMPK, AKT2, ATF2, MMP-2, FOXO3a, NADSYN1, Phosphorylation consensus sequence, Bioinformatics, Proteome, Network prediction, Computer Software, Other Medical and Health Sciences, Bioinformatics and computational biology, Medical biochemistry and metabolomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8pq5583h

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المؤلفون: Jiachen Lin, Lina Zhao, Sen Zhao, Shengjie Li, Zhengye Zhao, Zefu Chen, Zhifa Zheng, Jiashen Shao, Yuchen Niu, Xiaoxin Li, Jianguo Terry Zhang, Zhihong Wu, Nan Wu

المصدر: Genes, Vol 12, Iss 10, p 1615 (2021)

مصطلحات موضوعية: congenital vertebral malformation, exome sequencing, NADSYN1 gene, congenital NAD Deficiency Disorder, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/10/1615; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/0fe832e1d6444a4e9e8c746503cf3b11

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المؤلفون: Millan S. Patel, Halenur Yavuz-Kienle, Alicia P Acyinena, Diane Myles-Reid, Tim Van Mieghem, Anna M. Cueto-González, Causes Study, Susan Blaser, Miereia D T Riera, Silvia A Martínez, Shannon Rego, Walter Patrick Devine, Patrick Shannon, Karen Chong, Heyko Skladny, Sally L. Dunwoodie, Gavin Chapman, Justin O. Szot, Oliver Brandau, Dimitri J. Stavropoulos, Anne Slavotinek, Eduardo F. Tizzano, Alison M. Elliott, Vanda McNiven, Lucie Dupuis, Marjan M. Nezarati, Robert S. Phillips, Kristen Miller, Roberto Mendoza-Londono

المساهمون: ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Human mutation, 42(7), 862-876. Wiley-Liss Inc.
Hum Mutat

مصطلحات موضوعية: Kynurenine pathway, Genotype, HAAO, NADSYN1, Mutation, Missense, de novo NAD biosynthesis, KYNU, Nicotinamide adenine dinucleotide, Article, Cofactor, Frameshift mutation, 03 medical and health sciences, chemistry.chemical_compound, Genetics, Animals, Humans, Missense mutation, nicotinamide adenine dinucleotide, Genetics (clinical), 030304 developmental biology, Mammals, 0303 health sciences, biology, 030305 genetics & heredity, NAD, Spine, Complementation, Congenital NAD Deficiency Disorder, chemistry, biology.protein, NAD+ kinase, kynurenine pathway

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cb52f60e935bbd489940ccdd80426e3
https://doi.org/10.1002/humu.24211

المؤلفون: Sibel Ertan, Güneş Kızıltan, Gençer Genç, Aysegul Gunduz, Erdinç Dursun, Merve Alaylıoğlu, Hasmet Hanagasi, Selma Yilmazer, Büşra Şengül, Başar Bilgiç, Hulya Apaydin, Duygu Gezen-Ak, Özgür Öztop Çakmak, Hakan Gurvit

المساهمون: Yılmazer, Selma

المصدر: International Journal of Neuroscience. 132:439-449

مصطلحات موضوعية: 0301 basic medicine, Genetics, Parkinson's Disease, Parkinson's disease, General Neuroscience, NADSYN1, Single-nucleotide polymorphism, Locus (genetics), General Medicine, Disease, Biology, medicine.disease, vitamin D deficiency, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, DHCR7, Single Nucleotide Polymorphism, medicine, biology.protein, Vitamin D and neurology, Vitamin D, Gene, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be9bc3205b7b63302d4069fe919df7af
https://doi.org/10.1080/00207454.2020.1820502

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