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MoBiTec Vector Systems Citations

MoBiTec

Expression Systems

  • Atanassov I, Stefanova K, Tomova I, Kamburova M. Seamless GFP and GFP-Amylase Cloning in Gateway Shuttle Vector, Expression of the Recombinant Proteins inE. ColiandBacillus Megateriumand Assessment of the GFP-Amylase Thermostability. Biotechnology & Biotechnological Equipment. 2013;27(5):4172-4180. doi:10.5504/bbeq.2013.0079
  • Chumbler NM, Farrow MA, Lapierre LA, et al. Clostridium difficile Toxin B causes epithelial cell necrosis through an autoprocessing-independent mechanism [published correction appears in PLoS Pathog. 2012 Dec;8(12). doi: 10.1371/annotation/f9017013-88c8-44db-818b-08b9322f3814. Haslam, David [corrected to Haslam, David B]]. PLoS Pathog. 2012;8(12):e1003072. doi:10.1371/journal.ppat.1003072
  • Cowardin CA, Jackman BM, Noor Z, Burgess SL, Feig AL, Petri WA Jr. Glucosylation Drives the Innate Inflammatory Response to Clostridium difficile Toxin A. Infect Immun. 2016;84(8):2317-2323. Published 2016 Jul 21. doi:10.1128/IAI.00327-16
  • Detman A, Chojnacka A, Mielecki D, Błaszczyk M, Sikora A. Inhibition of hydrogen-yielding dark fermentation by ascomycetous yeasts. Int J Hydrogen Energy. 2018;43(24):10967-10979. doi:10.1016/j.ijhydene.2018.05.004
  • Doyle DA, DeAngelis PL, Ballard JD. CSPG4-dependent cytotoxicity for C. difficile TcdB is influenced by extracellular calcium and chondroitin sulfate. mSphere. 2024. doi: 10.1128/msphere.00094-24
  • D'Urzo N, Martinelli M, Nenci C, Brettoni C, Telford JL, Maione D. High-level intracellular expression of heterologous proteins in Brevibacillus choshinensis SP3 under the control of a xylose inducible promoter. Microb Cell Fact. 2013;12:12. Published 2013 Feb 1. doi:10.1186/1475-2859-12-12
  • Fühner V, Heine PA, Helmsing S, et al. Development of Neutralizing and Non-neutralizing Antibodies Targeting Known and Novel Epitopes of TcdB of Clostridioides difficile. Front Microbiol. 2018;9:2908. Published 2018 Dec 6. doi:10.3389/fmicb.2018.02908
  • Härtig E, Frädrich C, Behringer M, Hartmann A, Neumann-Schaal M, Jahn D. Functional definition of the two effector binding sites, the oligomerization and DNA binding domains of the Bacillus subtilis LysR-type transcriptional regulator AlsR. Mol Microbiol. 2018;109(6):845-864. doi:10.1111/mmi.14089
  • Kinsolving J, Bous J, Kozielewicz P, et al. Structural and functional insight into the interaction of Clostridioides difficile toxin B and FZD. Cell Reports. 2024; 2 (43). doi: 10.1016/j.celrep.2024.113727
  • Knobloch D, Ostermann K, Rödel G. Production, secretion, and cell surface display of recombinant Sporosarcina ureae S-layer fusion proteins in Bacillus megaterium. Appl Environ Microbiol. 2012;78(2):560-567. doi:10.1128/AEM.06127-11
  • Lopes W, Deolindo P, Andrade de Souza Costa A, et al. Optimization of a medium composition for the heterologous production of Alcaligenes faecalis penicillin G acylase in Bacillus megaterium. Protein Expression and Purification. 2023; (210). doi: 10.1016/j.pep.2023.106327
  • Lu YP, Zhang C, Lv FX, Bie XM, Lu ZX. Study on the electro-transformation conditions of improving transformation efficiency for Bacillus subtilis. Lett Appl Microbiol. 2012;55(1):9-14. doi:10.1111/j.1472-765X.2012.03249.x
  • Manse JS, Baldwin MR. Binding and entry of Clostridium difficile toxin B is mediated by multiple domains. FEBS Lett. 2015;589(24 Pt B):3945-3951. doi:10.1016/j.febslet.2015.11.017
  • Nasser H, Eikmanns BJ, Tolba MM, et al. The Superiority of Bacillus megaterium over Escherichia coli as a Recombinant Bacterial Host for Hyaluronic Acid Production. Microorganisms. 2022; 10(12):2347. doi: doi.org/10.3390/microorganisms10122347
  • Ocaña JS, et al. Nonsteroidal anti-inflammatory drugs sensitize epithelial cells to Clostridioides difficile toxin–mediated mitochondrial damage.Sci. Adv. 2023; (9). doi: 10.1126/sciadv.adh5552
  • Palma L, Ruiz de Escudero I, Mañeru-Oria F, et al. UV protection and insecticidal activity of microencapsulated Vip3Ag4 protein in Bacillus megaterium. Toxicon. 2024; (247). doi: 10.1016/j.toxicon.2024.107807
  • Perera VR, Lapek JD Jr, Newton GL, Gonzalez DJ, Pogliano K. Identification of the S-transferase like superfamily bacillithiol transferases encoded by Bacillus subtilis. PLoS One. 2018;13(2):e0192977. Published 2018 Feb 16. doi:10.1371/journal.pone.0192977
  • Pruitt RN, Chumbler NM, Rutherford SA, et al. Structural determinants of Clostridium difficile toxin A glucosyltransferase activity. J Biol Chem. 2012;287(11):8013-8020. doi:10.1074/jbc.M111.298414
  • Tian S, Xiong, X, Zeng, J, et al. Identification of TFPI as a receptor reveals recombination-driven receptor switching in Clostridioides difficile toxin B variants   Nat Commun 2022; (13) 6786. doi: doi.org/ 10.1038/s41467-022-33964-9
  • Williams A, Gedeon K, Vaidyanathan D et al. Metabolic engineering of Bacillus megaterium for heparosan biosynthesis using Pasteurella multocida heparosan synthase, PmHS2. Microb Cell Fact. 2019;18(1). doi:10.1186/s12934-019-1187-9
  • Yi Z, Su X, Revindran V, Mackie RI, Cann I. Molecular and biochemical analyses of CbCel9A/Cel48A, a highly secreted multi-modular cellulase by Caldicellulosiruptor bescii during growth on crystalline cellulose. PLoS One. 2013;8(12):e84172. Published 2013 Dec 16. doi:10.1371/journal.pone.0084172
  • Babar TK, Glare TR, Hampton JG , et al. Linocin M18 protein from the insect pathogenic bacterium Brevibacillus laterosporus isolates. Appl Microbiol Biotechnol. 2023. doi: 10.1007/s00253-023-12563-8
  • Cho G, Lee J, Kim J, et al. Identification of a novel 5-aminomethyl-2-thiouridine methyltransferase in tRNA modification. Nucleic Acids Research. 2023. doi: doi.org/10.1093/nar/gkad048
  • Dimitrova-Paternoga, L, Kasvandik S, Beckert B, et al. Structural basis of ribosomal 30S subunit degradation by RNase R. Nature. 2024. doi: 10.1038/s41586-024-07027-6
  • Gilmour KA, Ghimire PS, Wright J. et al. Microbially induced calcium carbonate precipitation through CO2 sequestration via an engineered Bacillus subtilis. Microb Cell Fact. 2024; (23)168. doi: 10.1186/s12934-024-02437-7
  • Gottimukkala C, Ma C, Netter H, Noronha S, Coppel R. Immunogenicity of Malaria Vaccine Candidate - Plasmodium Falciparum Merozoite Surface Protein 5 (PfMSP5) Expressed in Bacillus subtilis. APCBEE Procedia. 2014;9:113-119. doi:10.1016/j.apcbee.2014.01.021
  • Hess BM, Xue J, Markillie LM, et al. Coregulation of Terpenoid Pathway Genes and Prediction of Isoprene Production in Bacillus subtilis Using Transcriptomics. PLoS One. 2013;8(6):e66104. Published 2013 Jun 19. doi:10.1371/journal.pone.0066104
  • Ilk, N, Schumi CT, Bohle B. et al. Expression of an endotoxin-free S-layer/allergen fusion protein in gram-positive Bacillus subtilis 1012 for the potential application as vaccines for immunotherapy of atopic allergy. Microb Cell Fact. 2011; (10)6. doi: 10.1186/1475-2859-10-6
  • Jeong H, Jeong DE, Park SH, Kim SJ, Choi SK. Complete Genome Sequence of Bacillus subtilis Strain WB800N, an Extracellular Protease-Deficient Derivative of Strain 168. Microbiol Resour Announc. 2018;7(18):e01380-18. Published 2018 Nov 8. doi:10.1128/MRA.01380-18
  • Jiang Z, Niu T, Lv X, et al. Secretory Expression Fine-Tuning and Directed Evolution of Diacetylchitobiose Deacetylase by Bacillus subtilis. Appl Environ Microbiol. 2019;85(17):e01076-19. Published 2019 Aug 14. doi:10.1128/AEM.01076-19
  • Lu YP, Zhang C, Lv FX, Bie XM, Lu ZX. Study on the electro-transformation conditions of improving transformation efficiency for Bacillus subtilis. Lett Appl Microbiol. 2012;55(1):9-14. doi:10.1111/j.1472-765X.2012.03249.x
  • Minh Tran D, Phuong Phan T, Ngoc Doan T, Tran T, Schumann W, Nguyen H. Integrative expression vectors with Pgrac promoters for inducer-free overproduction of recombinant proteins in Bacillus subtilis. Biotechnology Reports. 2020:e00540. doi:10.1016/j.btre.2020.e00540
  • Mordukhova EA, Pan JG. Construction of a Bacillus subtilis and Escherichia coli shuttle vector harboring the fabL gene as a triclosan selection marker. Heliyon. 2020;6(5):e03891. Published 2020 May 13. doi:10.1016/j.heliyon.2020.e03891
  • Price MA, Cruz R, Baxter S, Escalettes F, Rosser SJ. CRISPR-Cas9 In Situ engineering of subtilisin E in Bacillus subtilis. PLoS One. 2019;14(1):e0210121. Published 2019 Jan 7. doi:10.1371/journal.pone.0210121
  • Välimets, S, Pedetti, P, Virginia L.J. et al. Secretory expression of recombinant small laccase genes in Gram-positive bacteria. Microb Cell Fact. 2023; 22(72). doi: 10.1186/s12934-023-02075-5
  • Vanden Broeck A, Van der Heiden E, Sauvage E, Dauvin M, Joris B, Duez C. A Lysine Cluster in Domain II of Bacillus subtilis PBP4a Plays a Role in the Membrane Attachment of This C1-PBP. PLoS One. 2015;10(10):e0140082. Published 2015 Oct 13. doi:10.1371/journal.pone.0140082
  • Arshad NF, Nordin FJ, Foong LC, et al. Engineering receptor-binding domain and heptad repeat domains towards the development of multi-epitopes oral vaccines against SARS-CoV-2 variants. PLOS ONE. 2024; 19(8): e0306111. doi: 10.1371/journal.pone.0306111
  • Borrero J, Chen Y, Dunny GM, Kaznessis YN. Modified lactic acid bacteria detect and inhibit multiresistant enterococci. ACS Synth Biol. 2015;4(3):299-306. doi:10.1021/sb500090b
  • Ciaćma K, Więckiewicz J, Kędracka-Krok S, et al. Secretion of tumoricidal human tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) by recombinant Lactococcus lactis: optimization of in vitro synthesis conditions. Microb Cell Fact. 2018;17(1):177. Published 2018 Nov 16. doi:10.1186/s12934-018-1028-2
  • Craig K, Dai X, Li A, et al. A Lactic Acid Bacteria (LAB)-Based Vaccine Candidate for Human Norovirus. Viruses. 2019;11(3):213. Published 2019 Mar 2. doi:10.3390/v11030213
  • Dolatabadi S, Falsaf T, Mahmoudi M. Lactococcus lactis as an oral vector for cloning of heat shock protein A from Helicobacter pylori. International Journal of Biosciences (IJB). 2015;6(3):410-415. doi:10.12692/ijb/6.3.410-415
  • García PC, Paillavil BA, Scioscia N, et al. Clinical and microbiological response of mice to intranasal inoculation with Lactococcus lactis expressing Group A Streptococcus antigens, to be used as an anti-streptococcal vaccine. Microbiol Immunol. 2018;62(11):711-719. doi:10.1111/1348-0421.12657
  • Gifre-Renom L, Seras-Franzoso J, Rafael D, et al. The Biological Potential Hidden in Inclusion Bodies. Pharmaceutics. 2020;12(2):157. Published 2020 Feb 15. doi:10.3390/pharmaceutics12020157
  • Lei H, Peng X, Ouyang J, et al. Protective immunity against influenza H5N1 virus challenge in chickens by oral administration of recombinant Lactococcus lactis expressing neuraminidase. BMC Vet Res. 2015;11:85. Published 2015 Apr 2. doi:10.1186/s12917-015-0399-4
  • Li L, Lee SJ, Yuan QP, Im WT, Kim SC, Han NS. Production of bioactive ginsenoside Rg3(S) and compound K using recombinant Lactococcus lactis. J Ginseng Res. 2018;42(4):412-418. doi:10.1016/j.jgr.2017.04.007
  • Lim PY, Tan LL, Ow DS, Wong FT. A propeptide toolbox for secretion optimization of Flavobacterium meningosepticum endopeptidase in Lactococcus lactis. Microb Cell Fact. 2017;16(1):221. Published 2017 Dec 5. doi:10.1186/s12934-017-0836-0
  • Liu GW, Pickett MJ, Kuosmanen, JLP, et al. Drinkable in situ-forming tough hydrogels for gastrointestinal therapeutics. Nat. Mater. 2024. doi: 10.1038/s41563-024-01811-5
  • Markakiou S, Rute Neves A, Zeidan A, et al. Development of a Tetracycline-Inducible System for Conditional Gene Expression in Lactococcus lactis and Streptococcus thermophilus. Microbiology Spectrum. 2023. doi: abs/10.1128/spectrum.00668-23
  • Namai F, Shigemori S, Ogita T, Sato T, Shimosato T. Microbial therapeutics for acute colitis based on genetically modified Lactococcus lactis hypersecreting IL-1Ra in mice [published online ahead of print, 2020 Sep 28]. Exp Mol Med. 2020;1-10. doi:10.1038/s12276-020-00507-5
  • Namai F, Sumiya S, Nomura N, et al. Development of fluorescence-labeled antibody for immune checkpoint inhibitor using engineered probiotics. AMB Expr. 2023; 13(4). doi: doi.org/10.1186/s13568-023-01509-y
  • Ogaugwu C, Cheng Q, Fieck A, Hurwitz I, Durvasula R. Characterization of a Lactococcus lactis promoter for heterologous protein production. Biotechnology Reports. 2018;17:86-92. doi:10.1016/j.btre.2017.11.010
  • Shigemori S, Watanabe T, Kudoh K, et al. Oral delivery of Lactococcus lactis that secretes bioactive heme oxygenase-1 alleviates development of acute colitis in mice. Microb Cell Fact. 2015;14:189. Published 2015 Nov 25. doi:10.1186/s12934-015-0378-2
  • Sato T., & Shimosato T. Intratracheally Therapeutic Option for COPD: A Potential Usage of the Therapeutic Microbe for Delivering Specific Protein to the Lungs. IntechOpen. 2022. doi: doi.org/10.5772/intechopen.106491
  • Shao J, Xin K, Qian Z, et al. Combining iRGD with HuFOLactis enhances antitumor potency by facilitating immune cell infiltration and activation. Human Vaccines & Immunotherapeutics. 2024; 20(1). doi: 10.1080/21645515.2024.2375825
  • Tagliavia M, Nicosia A. Advanced Strategies for Food-Grade Protein Production: A New E. coli/Lactic Acid Bacteria Shuttle Vector for Improved Cloning and Food-Grade Expression. Microorganisms. 2019;7(5):116. Published 2019 Apr 27. doi:10.3390/microorganisms7050116
  • Tanhaieian A, Sekhavati MH, Ahmadi FS, Mamarabadi M. Heterologous expression of a broad-spectrum chimeric antimicrobial peptide in Lactococcus lactis: Its safety and molecular modeling evaluation. Microb Pathog. 2018;125:51-59. doi:10.1016/j.micpath.2018.09.016
  • Van Zyl WF, Dicks LMT, Deane SM. Development of a novel selection/counter-selection system for chromosomal gene integrations and deletions in lactic acid bacteria. BMC Mol Biol. 2019;20(1):10. Published 2019 Mar 29. doi:10.1186/s12867-019-0127-x
  • Vasiee A, Falah F, Sankian M, Tabatabaei-Yazdi F, Mortazavi S. Oral Immunotherapy Using Probiotic Ice Cream Containing Recombinant Food-Grade Lactococcus lactis Which Inhibited Allergic Responses in a BALB/c Mouse Model. J Immunol Res. 2020;2020. doi:10.1155/2020/2635230
  • Vest KE, Wang J, Gammon MG, et al. Overlap of copper and iron uptake systems in mitochondria in Saccharomyces cerevisiae. Open Biol. 2016;6(1):150223. doi:10.1098/rsob.150223
  • Wang M, Fu T, Hao J, et al. A recombinant Lactobacillus plantarum strain expressing the spike protein of SARS-CoV-2. Int J Biol Macromol. 2020;160:736-740. doi:10.1016/j.ijbiomac.2020.05.239
  • Wang W, Song Y, Liu L, et al. Neutralizing-antibody-mediated protection of chickens against infectious bursal disease via one-time vaccination with inactivated recombinant Lactococcus lactis expressing a fusion protein constructed from the RCK protein of Salmonella enterica and VP2 of infectious bursal disease virus. Microb Cell Fact. 2019;18(1):21. Published 2019 Jan 31. doi:10.1186/s12934-019-1061-9
  • Xu C, Qiao L, Ma L, et al. Biosynthesis of Polysaccharides-Capped Selenium Nanoparticles Using Lactococcus lactis NZ9000 and Their Antioxidant and Anti-inflammatory Activities. Front Microbiol. 2019;10:1632. Published 2019 Jul 26. doi:10.3389/fmicb.2019.01632
  • Yoda M, Takase S, Suzuki K, et al. Development of engineered IL-36γ-hypersecreting Lactococcus lactis to improve the intestinal environment. World J Microbiol Biotechnol. 2024;40 363. doi: 10.1007/s11274-024-04157-x
  • Yu Hsuan How, Michelle Yee Mun Teo, Lionel Lian Aun In, et al. Development of fermented milk using food-grade recombinant Lactococcus lactis NZ3900.  NFS Journal . 2022;28:1-14. doi: 10.1016/j.nfs.2022.07.001
  • Yurina V, Adianingsih OR, Widodo N, et al. Oral and intranasal immunization with food-grade recombinant Lactococcus lactis expressing high conserved region of SARS-CoV-2 spike protein triggers mice’s immunity responses. Vaccine: X. 2023;13. doi:10.1016/j.jvacx.2023.100265
  • Zhai K, Zhang Z, Liu X et al. Mucosal immune responses induced by oral administration of recombinant Lactococcus lactis expressing the S1 protein of PDCoV. Virology. 2023;578:180-189. doi: doi.org/10.1016/j.virol.2022.12.010
  • Zhang P, Yang T, Sun Y, et al. Development and Immunoprotection of Bacterium-like Particle Vaccine against Infectious Bronchitis in Chickens.Vaccines. 2023; 11(8). doi: 10.3390/vaccines11081292
  • Ahlers-Dannen KE, Yang J, Spicer MM, et al. A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms. J Hum Genet. 2024. doi: 10.1038/s10038-024-01220-1
  • Akiyama K, Noguchi J, Hirose M, et al. A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) mice. J Biol Chem. 2013;288(44):31830-31841. doi:10.1074/jbc.M113.492306
  • Banday A, Onabajo O, Lin S et al. Isoform-specific characterization implicates alternative splicing in APOBEC3B as a mechanism restricting APOBEC-mediated mutagenesis. 2020. doi:10.1101/2020.09.27.315689
  • Banday, A.R., Stanifer, M.L., Florez-Vargas, O. et al. Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries. Nat Genet . Published 2022 Jul 14. doi:10.1038/s41588-022-01113-z
  • Belaya K, Rodríguez Cruz PM, Liu WW, et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain. 2015;138(Pt 9):2493-2504. doi:10.1093/brain/awv185
  • Booth KT, Askew JW, Talebizadeh Z, et al. Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. Genet Med. 2019;21(4):948-954. doi:10.1038/s41436-018-0285-0
  • Canavati C, Sherill-Rofe D, Kamal L, et al. Using multi-scale genomics to associate poorly annotated genes with rare diseases. Genome Med. 2023; 4(16). doi: 10.1186/s13073-023-01276-2
  • Caprioli J, Noris M, Brioschi S, et al. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood. 2006;108(4):1267-1279. doi:10.1182/blood-2005-10-007252
  • Chan L, Smith C, Read J, et al. RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency. Journal of the Endocrine Society. 2022; 6(1): A140-A141. doi: doi: 10.1210/jendso/bvac150.286
  • Chang H, Zhang X, Xu K, et al. Phenotype-Based Genetic Analysis Reveals Missing Heritability of KIF11-Related Retinopathy: Clinical and Genetic Findings. Genes. 2023; 14(1):212. doi: doi.org/10.3390/genes14010212
  • Chen Y, Huang L, Jiao X, Riazuddin S, Riazuddin S, Fielding Hetmancik J. A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa. Hum Genomics. 2018;12(1). doi:10.1186/s40246-018-0165-3
  • Cottrell E, Maharaj A, Chatterjee S et al. A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure. Endocrine Abstracts. 2018. doi:10.1530/endoabs.58.oc5.7
  • Delestrain C, Simon S, Aissat A, et al. Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype. Eur J Hum Genet. 2017;25(6):779-782. doi:10.1038/ejhg.2017.36
  • Hector RD, Kalscheuer VM, Hennig F, et al. CDKL5 variants: Improving our understanding of a rare neurologic disorder. Neurol Genet. 2017;3(6):e200. Published 2017 Dec 15. doi:10.1212/NXG.0000000000000200
  • Grombirikova H, Bily V, Soucek P, et al. Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort. J Clin Immunol. 2023. doi: 10.1007/s10875-023-01565-w
  • Hinzpeter A, Aissat A, Sondo E, et al. Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier. PLoS Genet. 2010;6(10):e1001153. Published 2010 Oct 7. doi:10.1371/journal.pgen.1001153
  • Kohmoto T, Naruto T, Kobayashi H, et al. A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome. Hum Genome Var. 2015;2:15043. Published 2015 Nov 12. doi:10.1038/hgv.2015.43
  • Kramárek M, Souček P, Réblová K, et al. Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs. Nucleic Acids Research. 2024.   doi: 10.1093/nar/gkae147
  • Maharaj A, Buonocore F, Meimaridou E, et al. Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing. J Endocr Soc. 2018;3(1):201-221. Published 2018 Oct 30. doi:10.1210/js.2018-00130
  • Maharaj A, Theodorou D, Banerjee II, Metherell LA, Prasad R, Wallace D. A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy. Front Pediatr. 2020;8:151. Published 2020 Apr 8. doi:10.3389/fped.2020.00151
  • Maharaj AV, Ishida M, Rybak A, et al. QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction. Nat Commun. 2024; (15) 8420. doi: 10.1038/s41467-024-52587-w
  • Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, et al. Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. Brain Pathology. 2022. doi: doi.org/10.1111/bpa.13134
  • Mura-Escorche G, Perdomo-Ramírez A, Ramos-Trujillo E, et al. Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease. Biomedicines. 2023; 11(11):3082. doi: 10.3390/biomedicines11113082
  • Naruto T, Okamoto N, Masuda K, et al. Deep intronic GPR143 mutation in a Japanese family with ocular albinism. Sci Rep. 2015;5:11334. Published 2015 Jun 10. doi:10.1038/srep11334
  • Oeffner F, Martinez F, Schaffer J, et al. Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. Exp Dermatol. 2011;20(5):447-449. doi:10.1111/j.1600-0625.2010.01238.x
  • Perdomo-Ramirez A, de Armas-Ortiz M, Ramos-Trujillo E, Suarez-Artiles L, Claverie-Martin F. Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations. BMC Med Genet. 2019;20(1):6. Published 2019 Jan 8. doi:10.1186/s12881-018-0713-7
  • Shi J, Tian L, Sun T, et al. Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy. Invest Ophthalmol Vis Sci. 2023;64(12):37. doi: 10.1167/iovs.64.12.37
  • Stockley J, Nisar SP, Leo VC, et al. Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease. PLoS One. 2015;10(12):e0143913. Published 2015 Dec 2. doi:10.1371/journal.pone.0143913
  • Suarez-Artiles L, Perdomo-Ramirez A, Ramos-Trujillo E, Claverie-Martin F. Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease. Genes (Basel). 2018;9(1):15. Published 2018 Jan 4. doi:10.3390/genes9010015
  • Sylvester B, Brindopke F, Suzuki A, et al. A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate. Genes (Basel). 2020;11(8):903. Published 2020 Aug 7. doi:10.3390/genes11080903
  • Vemula SR, Xiao J, Zhao Y, et al. A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. Mol Genet Genomic Med. 2014;2(3):261-272. doi:10.1002/mgg3.67
  • Wei WJ, Mu SR, Heiner M, et al. YB-1 binds to CAUC motifs and stimulates exon inclusion by enhancing the recruitment of U2AF to weak polypyrimidine tracts. Nucleic Acids Res. 2012;40(17):8622-8636. doi:10.1093/nar/gks579
  • Windpassinger C, Piard J, Bonnard C, et al. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. Am J Hum Genet. 2017;101(3):391-403. doi:10.1016/j.ajhg.2017.08.003
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