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For: Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun 2020;11:595. [PMID: 32001716 DOI: 10.1038/s41467-020-14360-7] [Cited by in Crossref: 16] [Cited by in F6Publishing: 18] [Article Influence: 8.0] [Reference Citation Analysis]
Number Citing Articles
1 Li Y, Sun Y, Ren G, Jiang D, Liu C. Functional characterization and substrate promiscuity analysis of UDP-glucose dehydrogenases from licorice (Glycyrrhiza uralensis). Journal of Molecular Structure 2022;1265:133355. [DOI: 10.1016/j.molstruc.2022.133355] [Reference Citation Analysis]
2 Fasano G, Compagnucci C, Dallapiccola B, Tartaglia M, Lauri A. Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains. Front Mol Neurosci 2022;15:855786. [DOI: 10.3389/fnmol.2022.855786] [Reference Citation Analysis]
3 Zimmer BM, Barycki JJ, Simpson MA. Mechanisms of coordinating hyaluronan and glycosaminoglycan production by nucleotide sugars. Am J Physiol Cell Physiol 2022. [PMID: 35442826 DOI: 10.1152/ajpcell.00130.2022] [Reference Citation Analysis]
4 Steinberg DJ, Aqeilan RI. WWOX-Related Neurodevelopmental Disorders: Models and Future Perspectives. Cells 2021;10:3082. [PMID: 34831305 DOI: 10.3390/cells10113082] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
5 Haouari W, Dubail J, Poüs C, Cormier-Daire V, Bruneel A. Inherited Proteoglycan Biosynthesis Defects-Current Laboratory Tools and Bikunin as a Promising Blood Biomarker. Genes (Basel) 2021;12:1654. [PMID: 34828260 DOI: 10.3390/genes12111654] [Reference Citation Analysis]
6 Mizumoto S, Yamada S. Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis. Front Genet 2021;12:717535. [PMID: 34539746 DOI: 10.3389/fgene.2021.717535] [Cited by in F6Publishing: 3] [Reference Citation Analysis]
7 Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Uğurlu Çi Men D, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet 2021;108:1301-17. [PMID: 34038740 DOI: 10.1016/j.ajhg.2021.05.003] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
8 Yang H, Yao S, Zhang M, Wu C. Heat Adaptation Induced Cross Protection Against Ethanol Stress in Tetragenococcus halophilus: Physiological Characteristics and Proteomic Analysis. Front Microbiol 2021;12:686672. [PMID: 34220775 DOI: 10.3389/fmicb.2021.686672] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
9 Anderson LM, Fox DB, Chesney KL, Coates JR, Torres BT, Lyons LA. Skeletal Manifestations of Heritable Disproportionate Dwarfism in Cats as Determined by Radiography and Magnetic Resonance Imaging. Vet Comp Orthop Traumatol 2021. [PMID: 34082456 DOI: 10.1055/s-0041-1730355] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
10 Brunet T, Jech R, Brugger M, Kovacs R, Alhaddad B, Leszinski G, Riedhammer KM, Westphal DS, Mahle I, Mayerhanser K, Skorvanek M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Kotzaeridou U, Hoffmann GF, Leiz S, Makowski C, Roser T, Schroeder SA, Steinfeld R, Strobl-Wildemann G, Hoefele J, Borggraefe I, Distelmaier F, Strom TM, Winkelmann J, Meitinger T, Zech M, Wagner M. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. Clin Genet 2021;100:14-28. [PMID: 33619735 DOI: 10.1111/cge.13946] [Cited by in Crossref: 2] [Cited by in F6Publishing: 14] [Article Influence: 2.0] [Reference Citation Analysis]
11 Eleftheriadou M, Medici-van den Herik E, Stuurman K, van Bever Y, Hellebrekers DMEI, van Slegtenhorst M, Ruijter G, Barakat TS. Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report. Mol Genet Genomic Med 2021;9:e1595. [PMID: 33432785 DOI: 10.1002/mgg3.1595] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
12 Filipek-Górniok B, Habicher J, Ledin J, Kjellén L. Heparan Sulfate Biosynthesis in Zebrafish. J Histochem Cytochem 2021;69:49-60. [PMID: 33216642 DOI: 10.1369/0022155420973980] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
13 Buckley RM, Davis BW, Brashear WA, Farias FHG, Kuroki K, Graves T, Hillier LW, Kremitzki M, Li G, Middleton RP, Minx P, Tomlinson C, Lyons LA, Murphy WJ, Warren WC. A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism. PLoS Genet 2020;16:e1008926. [PMID: 33090996 DOI: 10.1371/journal.pgen.1008926] [Cited by in Crossref: 19] [Cited by in F6Publishing: 31] [Article Influence: 9.5] [Reference Citation Analysis]
14 Nieto-Estévez V, Hsieh J. Human Brain Organoid Models of Developmental Epilepsies. Epilepsy Curr 2020;20:282-90. [PMID: 33017223 DOI: 10.1177/1535759720949254] [Cited by in Crossref: 1] [Cited by in F6Publishing: 7] [Article Influence: 0.5] [Reference Citation Analysis]
15 Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. Eur J Hum Genet 2021;29:141-53. [PMID: 32860008 DOI: 10.1038/s41431-020-00713-9] [Cited by in Crossref: 8] [Cited by in F6Publishing: 18] [Article Influence: 4.0] [Reference Citation Analysis]
16 Zimmer BM, Barycki JJ, Simpson MA. Integration of Sugar Metabolism and Proteoglycan Synthesis by UDP-glucose Dehydrogenase. J Histochem Cytochem 2021;69:13-23. [PMID: 32749901 DOI: 10.1369/0022155420947500] [Cited by in Crossref: 3] [Cited by in F6Publishing: 8] [Article Influence: 1.5] [Reference Citation Analysis]
17 Velíšek L, Velíšková J. Modeling epileptic spasms during infancy: Are we heading for the treatment yet? Pharmacol Ther 2020;212:107578. [PMID: 32417271 DOI: 10.1016/j.pharmthera.2020.107578] [Cited by in Crossref: 3] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
18 Alhamoudi KM, Bhat J, Nashabat M, Alharbi M, Alyafee Y, Asiri A, Umair M, Alfadhel M. A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia. Front Pediatr 2020;8:71. [PMID: 32175296 DOI: 10.3389/fped.2020.00071] [Cited by in Crossref: 4] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]