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Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts.
Ramalho AS, Beck S, Farinha CM, Clarke LA, Heda GD, Steiner B, Sanz J, Gallati S, Amaral MD, Harris A, Tzetis M. Ramalho AS, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:11-5. doi: 10.1016/j.jcf.2004.05.004. J Cyst Fibros. 2004. PMID: 15463918 Free article. Review.
Quantitative methods for the analysis of CFTR transcripts/splicing variants.
Amaral MD, Clarke LA, Ramalho AS, Beck S, Broackes-Carter F, Rowntree R, Mouchel N, Williams SH, Harris A, Tzetis M, Steiner B, Sanz J, Gallati S, Nissim-Rafinifa M, Kerem B, Hefferon T, Cutting GR, Goina E, Pagani F. Amaral MD, et al. J Cyst Fibros. 2004 Aug;3 Suppl 2:17-23. doi: 10.1016/j.jcf.2004.05.047. J Cyst Fibros. 2004. PMID: 15463919 Free article. Review.
Antibodies for CFTR studies.
Mendes F, Farinha CM, Roxo-Rosa M, Fanen P, Edelman A, Dormer R, McPherson M, Davidson H, Puchelle E, De Jonge H, Heda GD, Gentzsch M, Lukacs G, Penque D, Amaral MD. Mendes F, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:69-72. doi: 10.1016/j.jcf.2004.05.016. J Cyst Fibros. 2004. PMID: 15463931 Free article. Review.
Functional genomics assays to study CFTR traffic and ENaC function.
Almaça J, Dahimène S, Appel N, Conrad C, Kunzelmann K, Pepperkok R, Amaral MD. Almaça J, et al. Among authors: amaral md. Methods Mol Biol. 2011;742:249-64. doi: 10.1007/978-1-61779-120-8_15. Methods Mol Biol. 2011. PMID: 21547737
Quantification of CFTR transcripts.
Ramalho AS, Clarke LA, Amaral MD. Ramalho AS, et al. Among authors: amaral md. Methods Mol Biol. 2011;741:115-35. doi: 10.1007/978-1-61779-117-8_9. Methods Mol Biol. 2011. PMID: 21594782
Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.
Sousa M, Servidoni MF, Vinagre AM, Ramalho AS, Bonadia LC, Felício V, Ribeiro MA, Uliyakina I, Marson FA, Kmit A, Cardoso SR, Ribeiro JD, Bertuzzo CS, Sousa L, Kunzelmann K, Ribeiro AF, Amaral MD. Sousa M, et al. Among authors: amaral md. PLoS One. 2012;7(10):e47708. doi: 10.1371/journal.pone.0047708. Epub 2012 Oct 17. PLoS One. 2012. PMID: 23082198 Free PMC article.
CFTR functional measurements in human models for diagnosis, prognosis and personalized therapy: Report on the pre-conference meeting to the 11th ECFS Basic Science Conference, Malta, 26-29 March 2014.
Beekman JM, Sermet-Gaudelus I, de Boeck K, Gonska T, Derichs N, Mall MA, Mehta A, Martin U, Drumm M, Amaral MD. Beekman JM, et al. Among authors: amaral md. J Cyst Fibros. 2014 Jul;13(4):363-72. doi: 10.1016/j.jcf.2014.05.007. Epub 2014 Jun 2. J Cyst Fibros. 2014. PMID: 24882694 Free article. Review. No abstract available.
Progress in therapies for cystic fibrosis.
De Boeck K, Amaral MD. De Boeck K, et al. Among authors: amaral md. Lancet Respir Med. 2016 Aug;4(8):662-674. doi: 10.1016/S2213-2600(16)00023-0. Epub 2016 Apr 1. Lancet Respir Med. 2016. PMID: 27053340 Review.
Classification of CFTR mutation classes - Authors' reply.
De Boeck K, Amaral MD. De Boeck K, et al. Among authors: amaral md. Lancet Respir Med. 2016 Aug;4(8):e39. doi: 10.1016/S2213-2600(16)30189-8. Epub 2016 Jul 1. Lancet Respir Med. 2016. PMID: 27377413 No abstract available.
Epithelial Chloride Transport by CFTR Requires TMEM16A.
Benedetto R, Ousingsawat J, Wanitchakool P, Zhang Y, Holtzman MJ, Amaral M, Rock JR, Schreiber R, Kunzelmann K. Benedetto R, et al. Sci Rep. 2017 Sep 29;7(1):12397. doi: 10.1038/s41598-017-10910-0. Sci Rep. 2017. PMID: 28963502 Free PMC article.
Partial rescue of F508del-cystic fibrosis transmembrane conductance regulator channel gating with modest improvement of protein processing, but not stability, by a dual-acting small molecule.
Liu J, Bihler H, Farinha CM, Awatade NT, Romão AM, Mercadante D, Cheng Y, Musisi I, Jantarajit W, Wang Y, Cai Z, Amaral MD, Mense M, Sheppard DN. Liu J, et al. Among authors: amaral md. Br J Pharmacol. 2018 Apr;175(7):1017-1038. doi: 10.1111/bph.14141. Epub 2018 Feb 22. Br J Pharmacol. 2018. PMID: 29318594 Free PMC article.
CFTR modulator theratyping: Current status, gaps and future directions.
Clancy JP, Cotton CU, Donaldson SH, Solomon GM, VanDevanter DR, Boyle MP, Gentzsch M, Nick JA, Illek B, Wallenburg JC, Sorscher EJ, Amaral MD, Beekman JM, Naren AP, Bridges RJ, Thomas PJ, Cutting G, Rowe S, Durmowicz AG, Mense M, Boeck KD, Skach W, Penland C, Joseloff E, Bihler H, Mahoney J, Borowitz D, Tuggle KL. Clancy JP, et al. Among authors: amaral md. J Cyst Fibros. 2019 Jan;18(1):22-34. doi: 10.1016/j.jcf.2018.05.004. Epub 2018 Jun 20. J Cyst Fibros. 2019. PMID: 29934203 Free PMC article. Review.
R560S: A class II CFTR mutation that is not rescued by current modulators.
Awatade NT, Ramalho S, Silva IAL, Felício V, Botelho HM, de Poel E, Vonk A, Beekman JM, Farinha CM, Amaral MD. Awatade NT, et al. Among authors: amaral md. J Cyst Fibros. 2019 Mar;18(2):182-189. doi: 10.1016/j.jcf.2018.07.001. Epub 2018 Jul 18. J Cyst Fibros. 2019. PMID: 30030066 Free article.
The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosis.
Clarke LA, Awatade NT, Felício VM, Silva IA, Calucho M, Pereira L, Azevedo P, Cavaco J, Barreto C, Bertuzzo C, Gartner S, Beekman J, Amaral MD. Clarke LA, et al. Among authors: amaral md. Hum Mutat. 2019 Mar;40(3):326-334. doi: 10.1002/humu.23692. Epub 2018 Dec 10. Hum Mutat. 2019. PMID: 30488522
Extent of rescue of F508del-CFTR function by VX-809 and VX-770 in human nasal epithelial cells correlates with SNP rs7512462 in SLC26A9 gene in F508del/F508del Cystic Fibrosis patients.
Kmit A, Marson FAL, Pereira SV, Vinagre AM, Leite GS, Servidoni MF, Ribeiro JD, Ribeiro AF, Bertuzzo CS, Amaral MD. Kmit A, et al. Among authors: amaral md. Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1323-1331. doi: 10.1016/j.bbadis.2019.01.029. Epub 2019 Feb 1. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30716472 Free article.
CFTR processing, trafficking and interactions.
Amaral MD, Hutt DM, Tomati V, Botelho HM, Pedemonte N. Amaral MD, et al. J Cyst Fibros. 2020 Mar;19 Suppl 1:S33-S36. doi: 10.1016/j.jcf.2019.10.017. Epub 2019 Oct 31. J Cyst Fibros. 2020. PMID: 31680043 Free article. Review.
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.
Silva IAL, Doušová T, Ramalho S, Centeio R, Clarke LA, Railean V, Botelho HM, Holubová A, Valášková I, Yeh JT, Hwang TC, Farinha CM, Kunzelmann K, Amaral MD. Silva IAL, et al. Among authors: amaral md. Biochim Biophys Acta Mol Basis Dis. 2020 Nov 1;1866(11):165905. doi: 10.1016/j.bbadis.2020.165905. Epub 2020 Jul 28. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32730979 Free PMC article.
Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country.
da Silva Filho LVRF, Maróstica PJC, Athanazio RA, Reis FJC, Damaceno N, Paes AT, Hira AY, Schlesinger D, Kok F, Amaral MD; Brazilian Cystic Fibrosis Patient Registry Contributors Team. da Silva Filho LVRF, et al. Among authors: amaral md. J Cyst Fibros. 2021 May;20(3):473-484. doi: 10.1016/j.jcf.2020.08.007. Epub 2020 Aug 18. J Cyst Fibros. 2021. PMID: 32819855 Free article.
Mutant CFTR Drives TWIST1 mediated epithelial-mesenchymal transition.
Quaresma MC, Pankonien I, Clarke LA, Sousa LS, Silva IAL, Railean V, Doušová T, Fuxe J, Amaral MD. Quaresma MC, et al. Among authors: amaral md. Cell Death Dis. 2020 Oct 26;11(10):920. doi: 10.1038/s41419-020-03119-z. Cell Death Dis. 2020. PMID: 33106471 Free PMC article.
Synergy in Cystic Fibrosis Therapies: Targeting SLC26A9.
Pinto MC, Quaresma MC, Silva IAL, Railean V, Ramalho SS, Amaral MD. Pinto MC, et al. Among authors: amaral md. Int J Mol Sci. 2021 Dec 2;22(23):13064. doi: 10.3390/ijms222313064. Int J Mol Sci. 2021. PMID: 34884866 Free PMC article.
CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system.
Lim SH, Snider J, Birimberg-Schwartz L, Ip W, Serralha JC, Botelho HM, Lopes-Pacheco M, Pinto MC, Moutaoufik MT, Zilocchi M, Laselva O, Esmaeili M, Kotlyar M, Lyakisheva A, Tang P, López Vázquez L, Akula I, Aboualizadeh F, Wong V, Grozavu I, Opacak-Bernardi T, Yao Z, Mendoza M, Babu M, Jurisica I, Gonska T, Bear CE, Amaral MD, Stagljar I. Lim SH, et al. Among authors: amaral md. Mol Syst Biol. 2022 Feb;18(2):e10629. doi: 10.15252/msb.202110629. Mol Syst Biol. 2022. PMID: 35156780 Free PMC article.
CFTR, Cell Junctions and the Cytoskeleton.
Pankonien I, Quaresma MC, Rodrigues CS, Amaral MD. Pankonien I, et al. Among authors: amaral md. Int J Mol Sci. 2022 Feb 28;23(5):2688. doi: 10.3390/ijms23052688. Int J Mol Sci. 2022. PMID: 35269829 Free PMC article. Review.
Drug Repurposing for Cystic Fibrosis: Identification of Drugs That Induce CFTR-Independent Fluid Secretion in Nasal Organoids.
Rodenburg LW, Delpiano L, Railean V, Centeio R, Pinto MC, Smits SMA, van der Windt IS, van Hugten CFJ, van Beuningen SFB, Rodenburg RNP, van der Ent CK, Amaral MD, Kunzelmann K, Gray MA, Beekman JM, Amatngalim GD. Rodenburg LW, et al. Among authors: amaral md. Int J Mol Sci. 2022 Oct 21;23(20):12657. doi: 10.3390/ijms232012657. Int J Mol Sci. 2022. PMID: 36293514 Free PMC article.
Identification of novel F508del-CFTR traffic correctors among triazole derivatives.
Bacalhau M, Ferreira FC, Kmit A, Souza FR, da Silva VD, Pimentel AS, Amaral MD, Buarque CD, Lopes-Pacheco M. Bacalhau M, et al. Among authors: amaral md. Eur J Pharmacol. 2023 Jan 5;938:175396. doi: 10.1016/j.ejphar.2022.175396. Epub 2022 Nov 19. Eur J Pharmacol. 2023. PMID: 36410419 Free article.
Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
Beck S, Penque D, Garcia S, Gomes A, Farinha C, Mata L, Gulbenkian S, Gil-Ferreira K, Duarte A, Pacheco P, Barreto C, Lopes B, Cavaco J, Lavinha J, Amaral MD. Beck S, et al. Among authors: amaral md. Hum Mutat. 1999;14(2):133-44. doi: 10.1002/(SICI)1098-1004(1999)14:2<133::AID-HUMU5>3.0.CO;2-T. Hum Mutat. 1999. PMID: 10425036
Immunohistochemistry of CFTR in native tissues and primary epithelial cell cultures.
Mendes F, Doucet L, Hinzpeter A, Férec C, Lipecka J, Fritsch J, Edelman A, Jorna H, Willemsen R, Bot AG, De Jonge HR, Hinnrasky J, Castillon N, Taouil K, Puchelle E, Penque D, Amaral MD. Mendes F, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:37-41. doi: 10.1016/j.jcf.2004.05.008. J Cyst Fibros. 2004. PMID: 15463923 Free article. Review.
Biochemical methods to assess CFTR expression and membrane localization.
Farinha CM, Penque D, Roxo-Rosa M, Lukacs G, Dormer R, McPherson M, Pereira M, Bot AG, Jorna H, Willemsen R, Dejonge H, Heda GD, Marino CR, Fanen P, Hinzpeter A, Lipecka J, Fritsch J, Gentzsch M, Edelman A, Amaral MD. Farinha CM, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:73-7. doi: 10.1016/j.jcf.2004.05.017. J Cyst Fibros. 2004. PMID: 15463932 Free article.
Proteomics techniques for cystic fibrosis research.
Roxo-Rosa M, Davezac N, Bensalem N, Majumder M, Heda GD, Simas A, Penque D, Amaral MD, Lukacs GL, Edelman A. Roxo-Rosa M, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:85-9. doi: 10.1016/j.jcf.2004.05.019. J Cyst Fibros. 2004. PMID: 15463934 Free article. Review.
CFTR biomarkers: time for promotion to surrogate end-point.
De Boeck K, Kent L, Davies J, Derichs N, Amaral M, Rowe SM, Middleton P, de Jonge H, Bronsveld I, Wilschanski M, Melotti P, Danner-Boucher I, Boerner S, Fajac I, Southern K, de Nooijer RA, Bot A, de Rijke Y, de Wachter E, Leal T, Vermeulen F, Hug MJ, Rault G, Nguyen-Khoa T, Barreto C, Proesmans M, Sermet-Gaudelus I; European Cystic Fibrosis Society Clinical Trial Network Standardisation Committee. De Boeck K, et al. Eur Respir J. 2013 Jan;41(1):203-16. doi: 10.1183/09031936.00057512. Epub 2012 Aug 9. Eur Respir J. 2013. PMID: 22878883 Free article. Review.
Finding new drugs to enhance anion secretion in cystic fibrosis: Toward suitable systems for better drug screening. Report on the pre-conference meeting to the 12th ECFS Basic Science Conference, Albufeira, 25-28 March 2015.
Verkman AS, Edelman A, Amaral M, Mall MA, Beekman JM, Meiners T, Galietta LJ, Bear CE. Verkman AS, et al. J Cyst Fibros. 2015 Nov;14(6):700-5. doi: 10.1016/j.jcf.2015.10.001. Epub 2015 Oct 21. J Cyst Fibros. 2015. PMID: 26474804 Free PMC article. No abstract available.
Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis.
Nagy B Jr, Nagy B, Fila L, Clarke LA, Gönczy F, Bede O, Nagy D, Újhelyi R, Szabó Á, Anghelyi A, Major M, Bene Z, Fejes Z, Antal-Szalmás P, Bhattoa HP, Balla G, Kappelmayer J, Amaral MD, Macek M Jr, Balogh I. Nagy B Jr, et al. Among authors: amaral md. Chest. 2016 Sep;150(3):661-72. doi: 10.1016/j.chest.2016.04.006. Epub 2016 Apr 19. Chest. 2016. PMID: 27105680
Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.
Bosch B, Bilton D, Sosnay P, Raraigh KS, Mak DYF, Ishiguro H, Gulmans V, Thomas M, Cuppens H, Amaral M, De Boeck K. Bosch B, et al. J Cyst Fibros. 2017 Jul;16(4):488-491. doi: 10.1016/j.jcf.2017.01.016. Epub 2017 Feb 21. J Cyst Fibros. 2017. PMID: 28233695 Free article.
A novel microscopy-based assay identifies extended synaptotagmin-1 (ESYT1) as a positive regulator of anoctamin 1 traffic.
Lérias JR, Pinto MC, Botelho HM, Awatade NT, Quaresma MC, Silva IAL, Wanitchakool P, Schreiber R, Pepperkok R, Kunzelmann K, Amaral MD. Lérias JR, et al. Among authors: amaral md. Biochim Biophys Acta Mol Cell Res. 2018 Feb;1865(2):421-431. doi: 10.1016/j.bbamcr.2017.11.009. Epub 2017 Nov 15. Biochim Biophys Acta Mol Cell Res. 2018. PMID: 29154949 Free article.
A Mathematical Model of the Phosphoinositide Pathway.
Olivença DV, Uliyakina I, Fonseca LL, Amaral MD, Voit EO, Pinto FR. Olivença DV, et al. Among authors: amaral md. Sci Rep. 2018 Mar 2;8(1):3904. doi: 10.1038/s41598-018-22226-8. Sci Rep. 2018. PMID: 29500467 Free PMC article.
Human epididymis protein 4 (HE4) levels inversely correlate with lung function improvement (delta FEV1) in cystic fibrosis patients receiving ivacaftor treatment.
Nagy B Jr, Bene Z, Fejes Z, Heltshe SL, Reid D, Ronan NJ, McCarthy Y, Smith D, Nagy A, Joseloff E, Balla G, Kappelmayer J, Macek M Jr, Bell SC, Plant BJ, Amaral MD, Balogh I. Nagy B Jr, et al. Among authors: amaral md. J Cyst Fibros. 2019 Mar;18(2):271-277. doi: 10.1016/j.jcf.2018.08.013. Epub 2018 Sep 27. J Cyst Fibros. 2019. PMID: 30268371 Free article.
Speeding up access to new drugs for CF: Considerations for clinical trial design and delivery.
Davies JC, Drevinek P, Elborn JS, Kerem E, Lee T; European CF Society (ECFS) Strategic Planning Task Force on ‘Speeding up access to new 4 drugs for CF’; Amaral MD, de Boeck K, Davies JC, Drevinek P, Elborn JS, Kerem E, Lee T. Davies JC, et al. Among authors: amaral md. J Cyst Fibros. 2019 Sep;18(5):677-684. doi: 10.1016/j.jcf.2019.06.011. Epub 2019 Jul 11. J Cyst Fibros. 2019. PMID: 31303382 Free article.
TMEM16A chloride channel does not drive mucus production.
Simões FB, Quaresma MC, Clarke LA, Silva IA, Pankonien I, Railean V, Kmit A, Amaral MD. Simões FB, et al. Among authors: amaral md. Life Sci Alliance. 2019 Nov 15;2(6):e201900462. doi: 10.26508/lsa.201900462. Print 2019 Dec. Life Sci Alliance. 2019. PMID: 31732694 Free PMC article.
Letter to the editor of JCF.
Amaral MD. Amaral MD. J Cyst Fibros. 2020 May;19(3):503. doi: 10.1016/j.jcf.2020.02.011. J Cyst Fibros. 2020. PMID: 32600655 Free article. No abstract available.
Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids.
Vonk AM, van Mourik P, Ramalho AS, Silva IAL, Statia M, Kruisselbrink E, Suen SWF, Dekkers JF, Vleggaar FP, Houwen RHJ, Mullenders J, Boj SF, Vries R, Amaral MD, de Boeck K, van der Ent CK, Beekman JM. Vonk AM, et al. Among authors: amaral md. STAR Protoc. 2020 Jun 3;1(1):100019. doi: 10.1016/j.xpro.2020.100019. eCollection 2020 Jun 19. STAR Protoc. 2020. PMID: 33111074 Free PMC article.
The SLC26A9 inhibitor S9-A13 provides no evidence for a role of SLC26A9 in airway chloride secretion but suggests a contribution to regulation of ASL pH and gastric proton secretion.
Jo S, Centeio R, Park J, Ousingsawat J, Jeon DK, Talbi K, Schreiber R, Ryu K, Kahlenberg K, Somoza V, Delpiano L, Gray MA, Amaral MD, Railean V, Beekman JM, Rodenburg LW, Namkung W, Kunzelmann K. Jo S, et al. Among authors: amaral md. FASEB J. 2022 Nov;36(11):e22534. doi: 10.1096/fj.202200313RR. FASEB J. 2022. PMID: 36183361
Analysis of genomic CFTR DNA.
Férec C, Le Maréchal C, Audrézet MP, Farinha CM, Amaral MD, Gallati S, Sanz J, Steiner B, Mouchel N, Harris A, Schwarz MJ. Férec C, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:7-10. doi: 10.1016/j.jcf.2004.05.003. J Cyst Fibros. 2004. PMID: 15463917 Free article. Review.
Non-PCR methods for the analysis of CFTR transcripts.
Trezise AE, Farinha CM, Heda GD, Harris A, Amaral MD, Mouchel N. Trezise AE, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:25-8. doi: 10.1016/j.jcf.2004.05.005. J Cyst Fibros. 2004. PMID: 15463920 Free article. Review.
CFTR mutations altering CFTR fragmentation.
Tosoni K, Stobbart M, Cassidy DM, Venerando A, Pagano MA, Luz S, Amaral MD, Kunzelmann K, Pinna LA, Farinha CM, Mehta A. Tosoni K, et al. Among authors: amaral md. Biochem J. 2013 Jan 1;449(1):295-305. doi: 10.1042/BJ20121240. Biochem J. 2013. PMID: 23067305 Free PMC article.
Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination.
Pócsi M, Fejes Z, Bene Z, Nagy A, Balogh I, Amaral MD, Macek M Jr, Nagy B Jr. Pócsi M, et al. Among authors: amaral md. J Cyst Fibros. 2023 Nov;22(6):1085-1092. doi: 10.1016/j.jcf.2023.04.001. Epub 2023 Apr 20. J Cyst Fibros. 2023. PMID: 37087300 Free article.
Microarray mRNA expression profiling to study cystic fibrosis.
Ramachandran S, Clarke LA, Scheetz TE, Amaral MD, McCray PB Jr. Ramachandran S, et al. Among authors: amaral md. Methods Mol Biol. 2011;742:193-212. doi: 10.1007/978-1-61779-120-8_12. Methods Mol Biol. 2011. PMID: 21547734
CyFi-MAP: an interactive pathway-based resource for cystic fibrosis.
Pereira C, Mazein A, Farinha CM, Gray MA, Kunzelmann K, Ostaszewski M, Balaur I, Amaral MD, Falcao AO. Pereira C, et al. Among authors: amaral md. Sci Rep. 2021 Nov 15;11(1):22223. doi: 10.1038/s41598-021-01618-3. Sci Rep. 2021. PMID: 34782688 Free PMC article.
Assessment of CFTR localisation in native airway epithelial cells obtained by nasal brushing.
Harris CM, Mendes F, Dragomir A, Doull IJ, Carvalho-Oliveira I, Bebok Z, Clancy JP, Eubanks V, Sorscher EJ, Roomans GM, Amaral MD, McPherson MA, Penque D, Dormer RL. Harris CM, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:43-8. doi: 10.1016/j.jcf.2004.05.009. J Cyst Fibros. 2004. PMID: 15463924 Free article. Review.
Enhanced Expression of Human Epididymis Protein 4 (HE4) Reflecting Pro-Inflammatory Status Is Regulated by CFTR in Cystic Fibrosis Bronchial Epithelial Cells.
Bene Z, Fejes Z, Szanto TG, Fenyvesi F, Váradi J, Clarke LA, Panyi G, Macek M Jr, Amaral MD, Balogh I, Nagy B Jr. Bene Z, et al. Among authors: amaral md. Front Pharmacol. 2021 May 14;12:592184. doi: 10.3389/fphar.2021.592184. eCollection 2021. Front Pharmacol. 2021. PMID: 34054511 Free PMC article.
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR. Sosnay PR, et al. Among authors: amaral md. Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974870 Free PMC article.
What Can RNA-Based Therapy Do for Monogenic Diseases?
Clarke LA, Amaral MD. Clarke LA, et al. Among authors: amaral md. Pharmaceutics. 2023 Jan 12;15(1):260. doi: 10.3390/pharmaceutics15010260. Pharmaceutics. 2023. PMID: 36678889 Free PMC article. Review.
CFTR gene transfer to human cystic fibrosis pancreatic duct cells using a Sendai virus vector.
Rakonczay Z Jr, Hegyi P, Hasegawa M, Inoue M, You J, Iida A, Ignáth I, Alton EW, Griesenbach U, Ovári G, Vág J, Da Paula AC, Crawford RM, Varga G, Amaral MD, Mehta A, Lonovics J, Argent BE, Gray MA. Rakonczay Z Jr, et al. Among authors: amaral md. J Cell Physiol. 2008 Feb;214(2):442-55. doi: 10.1002/jcp.21220. J Cell Physiol. 2008. PMID: 17654517
F508del-CFTR increases intracellular Ca(2+) signaling that causes enhanced calcium-dependent Cl(-) conductance in cystic fibrosis.
Martins JR, Kongsuphol P, Sammels E, Dahimène S, Aldehni F, Clarke LA, Schreiber R, de Smedt H, Amaral MD, Kunzelmann K. Martins JR, et al. Among authors: amaral md. Biochim Biophys Acta. 2011 Nov;1812(11):1385-92. doi: 10.1016/j.bbadis.2011.08.008. Epub 2011 Aug 30. Biochim Biophys Acta. 2011. PMID: 21907281 Free article.
Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.
Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, Nogueira P, Barreto C, Lopes B, Casals T, Dapena J, Gartner S, Vásquez C, Pérez-Frías J, Olveira C, Cabanas R, Estivill X, Tzetis M, Kanavakis E, Doudounakis S, Dörk T, Tümmler B, Girodon-Boulandet E, Cazeneuve C, Goossens M, Blayau M, Verlingue C, Vieira I, Féréc C, Claustres M, des Georges M, Clavel C, Birembaut P, Hubert D, Bienvenu T, Adoun M, Chomel JC, De Boeck K, Cuppens H, Lavinha J. Amaral MD, et al. J Med Genet. 2001 Nov;38(11):777-83. doi: 10.1136/jmg.38.11.777. J Med Genet. 2001. PMID: 11732487 Free PMC article. No abstract available.
Microarray analysis in cystic fibrosis.
Galvin P, Clarke LA, Harvey S, Amaral MD. Galvin P, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:29-33. doi: 10.1016/j.jcf.2004.05.006. J Cyst Fibros. 2004. PMID: 15463921 Free article. Review.
The replication timing of CFTR and adjacent genes.
Englmann A, Clarke LA, Christan S, Amaral MD, Schindelhauer D, Zink D. Englmann A, et al. Among authors: amaral md. Chromosome Res. 2005;13(2):183-94. doi: 10.1007/s10577-005-0845-4. Chromosome Res. 2005. PMID: 15861307
Bacterial transfer of large functional genomic DNA into human cells.
Laner A, Goussard S, Ramalho AS, Schwarz T, Amaral MD, Courvalin P, Schindelhauer D, Grillot-Courvalin C. Laner A, et al. Among authors: amaral md. Gene Ther. 2005 Nov;12(21):1559-72. doi: 10.1038/sj.gt.3302576. Gene Ther. 2005. PMID: 15973438
Regulation of the epithelial Na+ channel by the protein kinase CK2.
Bachhuber T, Almaça J, Aldehni F, Mehta A, Amaral MD, Schreiber R, Kunzelmann K. Bachhuber T, et al. Among authors: amaral md. J Biol Chem. 2008 May 9;283(19):13225-32. doi: 10.1074/jbc.M704532200. Epub 2008 Feb 28. J Biol Chem. 2008. PMID: 18308722 Free PMC article.
Effect of Annexin A5 on CFTR: regulated traffic or scaffolding?
Faria D, Dahimène S, Alessio L, Scott-Ward T, Schreiber R, Kunzelmann K, Amaral MD. Faria D, et al. Among authors: amaral md. Mol Membr Biol. 2011 Jan;28(1):14-29. doi: 10.3109/09687688.2010.506264. Epub 2010 Nov 11. Mol Membr Biol. 2011. PMID: 21067452
Regulation of ENaC biogenesis by the stress response protein SERP1.
Faria D, Lentze N, Almaça J, Luz S, Alessio L, Tian Y, Martins JP, Cruz P, Schreiber R, Rezwan M, Farinha CM, Auerbach D, Amaral MD, Kunzelmann K. Faria D, et al. Among authors: amaral md. Pflugers Arch. 2012 Jun;463(6):819-27. doi: 10.1007/s00424-012-1091-1. Epub 2012 Apr 19. Pflugers Arch. 2012. PMID: 22526458
Control of TMEM16A by INO-4995 and other inositolphosphates.
Tian Y, Schreiber R, Wanitchakool P, Kongsuphol P, Sousa M, Uliyakina I, Palma M, Faria D, Traynor-Kaplan AE, Fragata JI, Amaral MD, Kunzelmann K. Tian Y, et al. Among authors: amaral md. Br J Pharmacol. 2013 Jan;168(1):253-65. doi: 10.1111/j.1476-5381.2012.02193.x. Br J Pharmacol. 2013. PMID: 22946960 Free PMC article.
Relationship between TMEM16A/anoctamin 1 and LRRC8A.
Benedetto R, Sirianant L, Pankonien I, Wanitchakool P, Ousingsawat J, Cabrita I, Schreiber R, Amaral M, Kunzelmann K. Benedetto R, et al. Pflugers Arch. 2016 Oct;468(10):1751-63. doi: 10.1007/s00424-016-1862-1. Epub 2016 Aug 12. Pflugers Arch. 2016. PMID: 27514381
Human-specific cystic fibrosis transmembrane conductance regulator antibodies detect in vivo gene transfer to ovine airways.
Davidson H, McLachlan G, Wilson A, Boyd AC, Doherty A, MacGregor G, Davies L, Painter HA, Coles R, Hyde SC, Gill DR, Amaral MD, Collie DD, Porteous DJ, Penque D. Davidson H, et al. Among authors: amaral md. Am J Respir Cell Mol Biol. 2006 Jul;35(1):72-83. doi: 10.1165/rcmb.2005-0377OC. Epub 2006 Feb 23. Am J Respir Cell Mol Biol. 2006. PMID: 16498081
Chimeric constructs endow the human CFTR Cl- channel with the gating behavior of murine CFTR.
Scott-Ward TS, Cai Z, Dawson ES, Doherty A, Da Paula AC, Davidson H, Porteous DJ, Wainwright BJ, Amaral MD, Sheppard DN, Boyd AC. Scott-Ward TS, et al. Among authors: amaral md. Proc Natl Acad Sci U S A. 2007 Oct 9;104(41):16365-70. doi: 10.1073/pnas.0701562104. Epub 2007 Oct 3. Proc Natl Acad Sci U S A. 2007. PMID: 17913891 Free PMC article.
GET-UP Trial 1-year results: long-term impact of an early mobilization protocol on functional performance after surgery for chronic subdural hematoma.
Pinto V, Sousa SA, Vaz da Silva F, Ribeiro da Costa T, Fernandes AP, Batata R, Noronha C, Monteiro Silva J, Ferreira S, Sobral S, Alves C, Rangel R, Calheiros A; GET-UP Trial Collaborators. Pinto V, et al. J Neurosurg. 2023 Nov 10:1-8. doi: 10.3171/2023.8.JNS231509. Online ahead of print. J Neurosurg. 2023. PMID: 37948693
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
Lemke AA, Thompson ML, Gimpel EC, McNamara KC, Rich CA, Finnila CR, Cochran ME, Lawlor JMJ, East KM, Bowling KM, Latner DR, Hiatt SM, Amaral MD, Kelley WV, Greve V, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Hughes T, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kirmse BM, Savich R, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM, Brothers KB. Lemke AA, et al. Among authors: amaral md. J Pers Med. 2023 Jun 21;13(7):1026. doi: 10.3390/jpm13071026. J Pers Med. 2023. PMID: 37511639 Free PMC article.
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA, Taylor JW, Cochran M, Lawlor JMJ, Moyers BA, Amaral MD, Bonnstetter ZT, Carter P, Solomon V, Myers RM, Love MN, Geldmacher DS, Cooper SJ, Roberson ED, Cochran JN. Wright CA, et al. Among authors: amaral md. Cold Spring Harb Mol Case Stud. 2023 Jul 11;9(3):a006271. doi: 10.1101/mcs.a006271. Print 2023 Jun. Cold Spring Harb Mol Case Stud. 2023. PMID: 37308299 Free PMC article.
Impact of an early mobilization protocol on the reduction of medical complications after surgery for chronic subdural hematoma: the GET-UP Trial.
Sousa S, Pinto V, Vaz da Silva F, Ribeiro da Costa T, Fernandes A, Batata R, Noronha C, Monteiro Silva J, Ferreira S, Sobral S, Alves C, Rangel R, Calheiros A; GET-UP Trial Collaborators. Sousa S, et al. J Neurosurg. 2023 Mar 17;139(3):854-863. doi: 10.3171/2023.2.JNS222262. Print 2023 Sep 1. J Neurosurg. 2023. PMID: 36933251 Clinical Trial.
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA, Taylor JW, Cochran M, Lawlor JMJ, Moyers BA, Amaral MD, Bonnstetter ZT, Carter P, Solomon V, Myers RM, Love MN, Geldmacher DS, Cooper SJ, Roberson ED, Cochran JN. Wright CA, et al. Among authors: amaral md. medRxiv [Preprint]. 2023 Feb 8:2023.02.06.23285383. doi: 10.1101/2023.02.06.23285383. medRxiv. 2023. PMID: 36798301 Free PMC article. Updated. Preprint.
Measuring cystic fibrosis drug responses in organoids derived from 2D differentiated nasal epithelia.
Amatngalim GD, Rodenburg LW, Aalbers BL, Raeven HH, Aarts EM, Sarhane D, Spelier S, Lefferts JW, Silva IA, Nijenhuis W, Vrendenbarg S, Kruisselbrink E, Brunsveld JE, van Drunen CM, Michel S, de Winter-de Groot KM, Heijerman HG, Kapitein LC, Amaral MD, van der Ent CK, Beekman JM. Amatngalim GD, et al. Among authors: amaral md. Life Sci Alliance. 2022 Aug 3;5(12):e202101320. doi: 10.26508/lsa.202101320. Life Sci Alliance. 2022. PMID: 35922154 Free PMC article.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM. Bowling KM, et al. Among authors: amaral md. Genet Med. 2022 Apr;24(4):851-861. doi: 10.1016/j.gim.2021.11.020. Epub 2021 Nov 27. Genet Med. 2022. PMID: 34930662 Free PMC article.
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Snijders Blok L, Vino A, den Hoed J, Underhill HR, Monteil D, Li H, Reynoso Santos FJ, Chung WK, Amaral MD, Schnur RE, Santiago-Sim T, Si Y, Brunner HG, Kleefstra T, Fisher SE. Snijders Blok L, et al. Among authors: amaral md. Genet Med. 2021 Mar;23(3):534-542. doi: 10.1038/s41436-020-01016-6. Epub 2020 Oct 28. Genet Med. 2021. PMID: 33110267 Free PMC article.
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.
Cochran JN, Geier EG, Bonham LW, Newberry JS, Amaral MD, Thompson ML, Lasseigne BN, Karydas AM, Roberson ED, Cooper GM, Rabinovici GD, Miller BL, Myers RM, Yokoyama JS; Alzheimer’s Disease Neuroimaging Initiative. Cochran JN, et al. Among authors: amaral md. Am J Hum Genet. 2020 May 7;106(5):632-645. doi: 10.1016/j.ajhg.2020.03.010. Epub 2020 Apr 23. Am J Hum Genet. 2020. PMID: 32330418 Free PMC article.
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Cochran JN, McKinley EC, Cochran M, Amaral MD, Moyers BA, Lasseigne BN, Gray DE, Lawlor JMJ, Prokop JW, Geier EG, Holt JM, Thompson ML, Newberry JS, Yokoyama JS, Worthey EA, Geldmacher DS, Love MN, Cooper GM, Myers RM, Roberson ED. Cochran JN, et al. Among authors: amaral md. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003491. doi: 10.1101/mcs.a003491. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836585 Free PMC article.
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML, Finnila CR, Bowling KM, Brothers KB, Neu MB, Amaral MD, Hiatt SM, East KM, Gray DE, Lawlor JMJ, Kelley WV, Lose EJ, Rich CA, Simmons S, Levy SE, Myers RM, Barsh GS, Bebin EM, Cooper GM. Thompson ML, et al. Among authors: amaral md. Genet Med. 2018 Dec;20(12):1635-1643. doi: 10.1038/gim.2018.53. Epub 2018 Apr 12. Genet Med. 2018. PMID: 29790872 Free PMC article.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S; Undiagnosed Diseases Network (UDN); Wangler MF, Bellen HJ, Shashi V, Yamamoto S. Liu N, et al. Among authors: amaral md. Hum Mol Genet. 2018 Jul 15;27(14):2454-2465. doi: 10.1093/hmg/ddy146. Hum Mol Genet. 2018. PMID: 29726930 Free PMC article.
Systematic reanalysis of genomic data improves quality of variant interpretation.
Hiatt SM, Amaral MD, Bowling KM, Finnila CR, Thompson ML, Gray DE, Lawlor JMJ, Cochran JN, Bebin EM, Brothers KB, East KM, Kelley WV, Lamb NE, Levy SE, Lose EJ, Neu MB, Rich CA, Simmons S, Myers RM, Barsh GS, Cooper GM. Hiatt SM, et al. Among authors: amaral md. Clin Genet. 2018 Jul;94(1):174-178. doi: 10.1111/cge.13259. Epub 2018 May 10. Clin Genet. 2018. PMID: 29652076 Free PMC article.
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM. Bowling KM, et al. Among authors: amaral md. Genome Med. 2017 May 30;9(1):43. doi: 10.1186/s13073-017-0433-1. Genome Med. 2017. PMID: 28554332 Free PMC article.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Amendola LM, et al. Among authors: amaral md. Am J Hum Genet. 2016 Jul 7;99(1):247. doi: 10.1016/j.ajhg.2016.06.001. Am J Hum Genet. 2016. PMID: 27392081 Free PMC article. No abstract available.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Amendola LM, et al. Among authors: amaral md. Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181684 Free PMC article.
New clinical diagnostic procedures for cystic fibrosis in Europe.
De Boeck K, Derichs N, Fajac I, de Jonge HR, Bronsveld I, Sermet I, Vermeulen F, Sheppard DN, Cuppens H, Hug M, Melotti P, Middleton PG, Wilschanski M; ECFS Diagnostic Network Working Group; EuroCareCF WP3 Group on CF diagnosis. De Boeck K, et al. J Cyst Fibros. 2011 Jun;10 Suppl 2:S53-66. doi: 10.1016/S1569-1993(11)60009-X. J Cyst Fibros. 2011. PMID: 21658643 Free article. Review.
208 results