@@ -8,1236 +8,806 @@ export default function DescSources(){
)
}
constbibtexSources=[
`@article{article,
author={Rodrigues, Roberta and Gabetta, Carmen S. and Pedro, Karla P. and Valdetaro, Fabioand Fernandes, Maria I. M. and Magalhães, Patrícia K. R. and Januário, José N., Maciel, Léa M. Z.},
year={2008},
pages={475-484},
title={Cystic Fibrosis and neonatal screening},
volume={24},
journal={Cadernos de Saúde Pública},
doi={10.1590/S0102-311X2008001600002}
}`,
`@article{article,
author={Farrell, Philip M. and Rock, Michael J. and Baker, Mei W.},
year={2020},
pages={401},
title={The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy},
volume={11(4)},
journal={Genes},
doi={10.3390/genes11040401}
}`,
`@article{article,
author={Lukacs, Gergely L. and Verkman, A. S.},
year={2012},
pages={81-91},
title={ CFTR: folding, misfolding and correcting the ΔF508 conformational defect},
volume={18(2)},
journal={Trends in molecular medicine},
doi={10.1016/j.molmed.2011.10.003}
}`,
`@misc{ECFS2024internet,
author={European Cystic Fibrosis Society},
title={2022 Highlight Report: Cystic Fibrosis in Europe, Facts and Figures},
author = {Anzalone, Andrew and Randolph, Peyton and Davis, Jessie and Sousa, Ayalur and Koblan, Luke and Levy, Jonathan and Chen, Patrick and Wilson, Charlotte and Newby, Greg and Raguram, Aditya and Liu, David},
title = {Search-and-replace genome editing without double-strand breaks or donor DNA},
journal = {Nature},
volume = {576},
pages = {149--157},
year = {2019},
doi = {10.1038/s41586-019-1711-4}
}
`,/* 16 */
`@article{Doman2023,
author = {Doman, Jacob and Pandey, Siddharth and Neugebauer, Maria and An, Meiqi and Davis, Jessie and Randolph, Peyton and McElroy, Andrew and Gao, Xiaoxu and Raguram, Aditya and Richter, Markus and Everette, Keaton and Banskota, Saroj and Tian, Kangrui and Tao, Yuhang and Tolar, Jakub and Osborn, Matthew and Liu, David},
title = {Phage-assisted evolution and protein engineering yield compact, efficient prime editors},
author={Gadsby, David C. and Vergani, Paola and Csanády, L{\'a}szl{\'o}},
journal={Nature},
volume={440},
number={7083},
pages={477--483},
year={2006},
publisher={Nature Publishing Group},
doi={10.1038/nature04712}
} `,
`@article{Hwang2013,
title={The CFTR ion channel: gating, regulation, and anion permeation},
author={Hwang, Tzyh-Chang and Kirk, Kevin L.},
journal={Cold Spring Harbor Perspectives in Medicine},
volume={3},
number={1},
pages={a009498},
year={2013},
publisher={Cold Spring Harbor Laboratory Press},
doi={10.1101/cshperspect.a009498}
} `,
`@article{Riordan2008,
title={CFTR function and prospects for therapy},
author={Riordan, John R.},
journal={Annual Review of Biochemistry},
volume={77},
pages={701--726},
year={2008},
publisher={Annual Reviews},
doi={10.1146/annurev.biochem.75.103004.142532}
} `,
`@article{Sheppard1999,
title={Structure and function of the CFTR chloride channel},
author={Sheppard, David N. and Welsh, Michael J.},
journal={Physiological Reviews},
volume={79},
number={1 Suppl},
pages={S23--S45},
year={1999},
publisher={American Physiological Society},
doi={10.1152/physrev.1999.79.1.S23}
} `,
` @article{Chen2008,
title={CFTR activation by phosphorylation},
author={Chen, Jeng-Haur and Chang, Xue-Bao},
journal={Journal of Biomedical Science},
volume={15},
number={6},
pages={659--672},
year={2008},
publisher={Springer},
doi={10.1007/s11373-008-9260-4}
} `,
`@article{article,
author={Lukacs, Gergely L.; Verkman, A. S.},
year={2012},
month={2},
pages={81-91},
title={ CFTR: folding, misfolding and correcting the ΔF508 conformational defect},
volume={18(2)},
journal={Trends in molecular medicine},
doi={10.1016/j.molmed.2011.10.003}
} `,
`@article{article,
author={Farrell, Philip M.; Rock, Michael J.; Baker, Mei W.},
year={2020},
month={04},
pages={401},
title={The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy},
volume={11(4)},
journal={Genes},
doi={10.3390/genes11040401}
} `,
`@article{article,
author={Rodrigues, Roberta; Gabetta, Carmen S.; Pedro, Karla P.; Valdetaro, Fabio; Fernandes, Maria I. M.; Magalhães, Patrícia K. R.; Januário, José N., Maciel, Léa M. Z.},
`@article{Dahdul_2012, title={A Unified Anatomy Ontology of the Vertebrate Skeletal System}, volume={7}, ISSN={1932-6203}, url={http://dx.doi.org/10.1371/journal.pone.0051070}, DOI={10.1371/journal.pone.0051070}, number={12}, journal={PLoS ONE}, publisher={Public Library of Science (PLoS)}, author={Dahdul, Wasila M. and Balhoff, James P. and Blackburn, David C. and Diehl, Alexander D. and Haendel, Melissa A. and Hall, Brian K. and Lapp, Hilmar and Lundberg, John G. and Mungall, Christopher J. and Ringwald, Martin and Segerdell, Erik and Van Slyke, Ceri E. and Vickaryous, Matthew K. and Westerfield, Monte and Mabee, Paula M.}, editor={Robinson-Rechavi, Marc}, year={2012}, month=dec, pages={e51070} } `,
`@book{Lambrechts_2023, title={Musculoskeletal Abnormalities Caused by Cystic Fibrosis}, ISBN={9781803562735}, ISSN={2631-8261}, url={http://dx.doi.org/10.5772/intechopen.104591}, DOI={10.5772/intechopen.104591}, booktitle={Advances in Skeletal Muscle Health and Disease}, publisher={IntechOpen}, author={Lambrechts, Mark}, year={2023}, month=mar } `,
`@misc{Anatomy2024internet,
author = {Yousef, H., Alhajj, M., Fakoya AO, et al.},
author = {Naehrig, Susanne and Chao, Cho-Ming and Naehrlich, Lutz},
title = {{Cystic Fibrosis}},
journal = {Deutsches Ärzteblatt International},
volume = {114},
number = {33-34},
pages = {564-574},
doi = {10.3238/arztebl.2017.0564},
year = {2017},
abstract = {Background: Universal screening of newborn babies for Cystic Fibrosis was launched in Germany on 1 September 2016. Here we present up-to-date information on the diagnosis, treatment, and prognosis of this disease.Methods: This article is based on relevant publications retrieved by a selective search in PubMed, along with guidelines from Germany and abroad and systematic reviews.Results: Cystic Fibrosis is caused by a gene mutation leading to dysfunction of the Cystic Fibrosis transmembrane conductance regulator (CFTR) protein. It affects multiple organ systems—the lungs, pancreas, upper airways, liver, intestine, and reproductive organs—to varying degrees. Its incidence among newborn babies in Germany is between 1 in 3300 and 1 in 4800. Its diagnosis requires both clinical evidence (positive newborn screening, sibling[s] with Cystic Fibrosis, clinical signs) and the demonstration of CFTR dysfunction by an elevated chloride concentration in sweat, and/or two disease-causing mutations, and/or abnormal electrophysiological findings (nasal potential difference measurement, intestinal short-circuit current measurement). Patients should be cared for by specialized Cystic Fibrosis centers in close cooperation with their primary care physicians. The median life span of patients with this disease has risen steadily to the current value of 40 years. Aside from symptomatic treatment, the first mutation-specific treatments have recently become available.Conclusion: Early diagnosis and optimized treatment prolong the lives of persons with Cystic Fibrosis and improve their quality of life. Causally directed treatment for all patients and their effects on the course of disease are now central issues for further research.},
title={Global Burden of Anxiety and Depression among Cystic Fibrosis Patient: Systematic Review and Meta-Analysis},
volume={2021},
ISSN={2356-6981},
url={http://dx.doi.org/10.1155/2021/6708865},
DOI={10.1155/2021/6708865},
journal={International Journal of Chronic Diseases},
publisher={Hindawi Limited},
author={Guta, Mistire Teshome and Tekalign, Tiwabwork and Awoke, Nefsu and Fite, Robera Olana and Dendir, Getahun and Lenjebo, Tsegaye Lolaso},
editor={Rao, Kosagi S. Jagannatha},
year={2021},
month={jul},
pages={1-9}
}`,
/* 56 */
`@article{Farrell2017,
title={Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation},
author={Farrell, Philip M. and White, Thomas B. and Ren, Carol L. and Hempstead, Sarah E. and Accurso, Frank and Derichs, Nico and Howenstine, Margaret S. and McColley, Susanna A. and Rock, Michael J. and Rosenfeld, Margaret and Campbell, Peter W.},
journal={Journal of Pediatrics},
volume={181S},
pages={4--15},
year={2017},
publisher={Elsevier},
doi={10.1016/j.jpeds.2016.09.064}
}`,
`@article{Castellani2008,
title={Consensus on the use and interpretation of Cystic Fibrosis mutation analysis in clinical practice},
author={Castellani, Carlo and Cuppens, H. and Macek Jr, Milan and Cassiman, Jean-Marie and Kerem, Eitan and Durie, Peter and Tullis, Elizabeth and Assael, B. M. and Bombieri, Cristina and Brown, Amanda and others},
journal={Journal of Cystic Fibrosis},
volume={7},
number={3},
pages={179--196},
year={2008},
publisher={Elsevier},
doi={10.1016/j.jcf.2008.03.009}
}`,
`@article{Comeau2004,
title={Population-based newborn screening for genetic disorders: the Massachusetts model},
author={Comeau, Audrey M. and Larson, Chad and Eaton, Robert B.},
journal={Pediatrics},
volume={114},
number={5},
pages={1370--1375},
year={2004},
publisher={American Academy of Pediatrics},
doi={10.1542/peds.2004-0710}
}`,
`@article{Southern2009,
title={Newborn screening for Cystic Fibrosis},
author={Southern, Kevin W. and Mérelle, Marieke M. E. and Dankert-Roelse, Jeannette E. and Nagelkerke, Nico},
journal={Cochrane Database of Systematic Reviews},
volume={1},
pages={CD001402},
year={2009},
publisher={John Wiley \& Sons},
doi={10.1002/14651858.CD001402.pub2}
}`,
`@article{Cutting2015,
title={Cystic Fibrosis genetics: from molecular understanding to clinical application},
author={Cutting, Garry R.},
journal={Nature Reviews Genetics},
volume={16},
pages={45--56},
year={2015},
publisher={Nature Publishing Group},
doi={10.1038/nrg3849}
}`,
/* 61 */
`@article{Crossley1979,
title={Dried-blood spot screening for Cystic Fibrosis in the newborn},
author={Crossley, John R. and Elliott, Robert B. and Smith, Patricia A.},
journal={The Lancet},
volume={1},
number={8126},
pages={472--474},
year={1979},
publisher={Elsevier},
doi={10.1016/S0140-6736(79)91757-9}
}`,
`@book{Paracchini2011id,
title = "Cystic Fibrosis newborn screening: Distribution of blood
immunoreactive trypsinogen concentrations in hypertrypsinemic
neonates",
booktitle = "{JIMD} Reports",
author = "Paracchini, Valentina and Seia, Manuela and Raimondi, Sara and
Costantino, Lucy and Capasso, Patrizia and Porcaro, Luigi and
Colombo, Carla and Coviello, Domenico A and Mariani, Tiziana and
Manzoni, Emanuela and Sangiovanni, Monica and Corbetta, Carlo",
publisher = "Springer Berlin Heidelberg",
pages = "17--23",
series = "JIMD reports",
year = 2011,
address = "Berlin, Heidelberg"
} `,
`@article{southern2007survey,
title={A survey of newborn screening for Cystic Fibrosis in Europe},
author={Southern, Kevin W and Munck, Anne and Pollitt, Rodney and Travert, Georges and Zanolla, Luisa and Dankert-Roelse, Jeannette and Castellani, Carlo and ECFS CF Neonatal Screening Working Group and others},
journal={Journal of Cystic Fibrosis},
volume={6},
number={1},
pages={57--65},
year={2007},
publisher={Elsevier}
} `,
/* 64)*/
`@ARTICLE{Mishra2008-ia,
title = "Diagnosis of Cystic Fibrosis by sweat testing: age-specific
reference intervals",
author = "Mishra, Avantika and Greaves, Ronda and Smith, Katherine and
Carlin, John B and Wootton, Andrew and Stirling, Rob and Massie,
John",
abstract = "OBJECTIVE: To develop reference intervals (RIs) for sweat
chloride and sodium in healthy children, adolescents, and
adults. STUDY DESIGN: Healthy, unrelated subjects aged from 5 to
>50 years and subjects who were pancreatic insufficient with
Cystic Fibrosis (CF) were recruited. Sweat collection was
performed on all subjects with the Wescor Macroduct system.
Sweat electrolytes were analyzed with direct ion selective
electrodes. DeltaF508 mutation analysis was performed on the
healthy subjects >/=15 years old. RESULTS: A total of 282
healthy and 40 subjects with CF were included for analysis.
There was no overlap of sweat chloride between the group with CF
and the group without CF, but there was some overlap of sweat
sodium. Sweat chloride increased with age, with the rate of
increase slowing progressively to zero after the age of 19
years. The estimated median (95\% RI) for sweat chloride were: 5
to 9 years, 13 mmol/L (1-39 mmol/L); 10 to 14 years, 18mmol/L
(3-47 mmol/L); 15 to 19 years, 20 mmol/L (3-51mmol/L); and 20+
years 23 mmol/L (5-56mmol/L). CONCLUSIONS: We have successfully
developed the age-related RI for sweat electrolytes, which will
be useful for clinicians interpreting sweat test results from
author={Hegyi, Péter and Wilschanski, Michael and Muallem, Shmuel and Lukacs, Gergely L. and Sahin-Tóth, Miklós and Uc, Aliye and Gray, Michael A. and Rakonczay, Zoltán and Maléth, József},
editor={Nilius, Bernd and de Tombe, Pieter and Gudermann, Thomas and Jahn, Reinhard and Lill, Roland and Petersen, Ole H.},
title={CFTR: A New Horizon in the Pathomechanism and Treatment of Pancreatitis},
bookTitle={Reviews of Physiology, Biochemistry and Pharmacology Vol. 170},
year={2016},
publisher={Springer International Publishing},
address={Cham},
pages={37--66},
isbn={978-3-319-31492-1},
doi={10.1007/112_2015_5002},
url={https://doi.org/10.1007/112_2015_5002}
}`,
`@article{farrell2020impact,
title={The impact of the CFTR gene discovery on Cystic Fibrosis diagnosis, counseling, and preventive therapy},
author={Farrell, Philip M and Rock, Michael J and Baker, Mei W},
author={Flume, Patrick A. and Robinson, Karen A. and O'Sullivan, Brian P and Finder, Jon D and Vender, Robin L and Willey-Courand, Donna B and White, Thomas B and Marshall, Bruce C.},
journal={Respiratory Care},
volume={54},
number={4},
pages={522--537},
year={2009},
publisher={Respiratory Care},
doi={10.4187/aarc0555}
}`,
`@article{REISMAN1988632,
title={Role of conventional physiotherapy in Cystic Fibrosis},
author={Reisman, John J. and Rivington-Law, Betty and Corey, Mary and Marcotte, Jacques and Wannamaker, Eleanor and Harcourt, Dawn and Levison, Henry}
}`,
`@article{Wainwright2015,
title={Lumacaftor-ivacaftor in patients with Cystic Fibrosis homozygous for Phe508del CFTR},
author={Wainwright, Claire E and Elborn, J Stuart and Ramsey, Bonnie W and Marigowda, Girish and Huang, Xinxin and Cipolli, Marco and Colombo, Carlo and Davies, Jane C and De Boeck, Kris and Flume, Patrick A and others},
author={Roda, Juliana and Pinto-Silva, Catarina and Silva, Iris A. I. and Maia, Carla and Almeida, Susana and Ferreira, Ricardo and Oliveira, Guiomar},
title={New drugs in Cystic Fibrosis: what has changed in the last decade?},
journal={Therapeutic Advances in Chronic Disease},
volume={13},
pages={20406223221098136},
year={2022},
doi={10.1177/20406223221098136},
pmid={35620188},
pmc={PMC9128052},
issn={2040-6223},
note={eCollection 2022},
publisher={SAGE Publications},
url={https://doi.org/10.1177/20406223221098136}
}`,
`@misc{Muko32024internet,
author={Mukoviszidose e.V},
title={Orkambi - CFTR-Modulator bei zwei F508del-Mutationen},
author = {Sahay, Gaurav and Querbes, Jordan and Gupta, Amit K. and Stanton-Maxey, Benjamin Z. and Davis, Mark E. and Szoka, Frank C. and Anderson, Daniel G.},
`@article{Badon_Oh_Kim_Lee_2024, title={Recent application of CRISPR-Cas12 and OMEGA system for genome editing}, volume={32}, ISSN={1525-0016, 1525-0024}, DOI={10.1016/j.ymthe.2023.11.013}, number={1}, journal={Molecular Therapy}, publisher={Elsevier}, author={Badon, Isabel Wen and Oh, Yeounsun and Kim, Ho-Joong and Lee, Seung Hwan}, year={2024}, month=jan, pages={32–43}, language={English} } `,
title={Fanzor is a eukaryotic programmable RNA-guided endonuclease},
volume={620},
rights={2023 The Author(s)},
ISSN={1476-4687},
DOI={10.1038/s41586-023-06356-2},
number={7974},
journal={Nature},
publisher={Nature Publishing Group},
author={Saito, Makoto and Xu, Peiyu and Faure, Guilhem and Maguire, Samantha and Kannan, Soumya and Altae-Tran, Han and Vo, Sam and Desimone, AnAn and Macrae, Rhiannon K. and Zhang, Feng},
title={CasX enzymes comprise a distinct family of RNA-guided genome editors},
volume={566},
rights={2019 The Author(s), under exclusive licence to Springer Nature Limited},
ISSN={1476-4687},
DOI={10.1038/s41586-019-0908-x},
number={7743},
journal={Nature},
publisher={Nature Publishing Group},
author={Liu, Jun-Jie and Orlova, Natalia and Oakes, Benjamin L. and Ma, Enbo and Spinner, Hannah B. and Baney, Katherine L. M. and Chuck, Jonathan and Tan, Dan and Knott, Gavin J. and Harrington, Lucas B. and Al-Shayeb, Basem and Wagner, Alexander and Brötzmann, Julian and Staahl, Brett T. and Taylor, Kian L. and Desmarais, John and Nogales, Eva and Doudna, Jennifer A.},
title = {Phage-assisted evolution and protein engineering yield compact, efficient prime editors},
author = {Doman, J. L. and Pandey, S. and Neugebauer, M. E. and An, Meirui and Davis, Jessie R. and Randolph, Peyton B. and McElroy, Amber and Gao, Xin D. and Raguram, Aditya and Richter, Michelle F. and Everette, Kelcee A. and Banskota, Samagya and Tian, Kathryn and Tao, Y. Allen and Tolar, Jakub and Osborn, Mark J. and Liu, David R.},
`,`
@article{NEARY2024812,
title = {
Nebulised delivery of RNA formulations to the lungs: From aerosol to cytosol
},
author = {Neary, Michael T. and Mulder, Lianne M. and Kowalski, Piotr S. and MacLoughlin, Ronan and Crean, Abina M. and Ryan, Katie B.},
year = 2024,
journal = {Journal of Controlled Release},
volume = 366,
pages = {812--833},
doi = {https://doi.org/10.1016/j.jconrel.2023.12.012},
Overcoming thermostability challenges in mRNA-lipid nanoparticle systems with
piperidine-based ionizable lipids
},
author = {
Hashiba, Kazuki and Taguchi, Masamitsu and Sakamoto, Sachiko and Otsu, Ayaka and Maeda, Yoshiki and Ebe, Hirofumi and Okazaki, Arimichi and Harashima, Hideyoshi and Sato, Yusuke
Engineering Lipid Nanoparticles for Enhanced Intracellular Delivery of mRNA
through Inhalation
},
author = {
Kim, Jeonghwan and Jozic, Antony and Lin, Yuxin and Eygeris, Yulia and Bloom, Elissa and Tan, Xiaochen and Acosta, Christopher and MacDonald, Kelvin D. and Welsher, Kevin D. and Sahay, Gaurav
},
year = 2022,
journal = {Proceedings of the National Academy of Sciences},
Preparation of selective organ-targeting (SORT) lipid nanoparticles (LNPs)
using multiple technical methods for tissue-specific mRNA delivery
},
author = {
Wang, Xu and Liu, Shuai and Sun, Yehui and Yu, Xueliang and Lee, Sang M. and Cheng, Qiang and Wei, Tuo and Gong, Junyu and Robinson, Joshua and Zhang, Di and Lian, Xizhen and Basak, Pratima and Siegwart, Daniel J.
Wei, Tuo and Sun, Yehui and Cheng, Qiang and Chatterjee, Sumanta and Traylor, Zachary and Johnson, Lindsay T. and Coquelin, Melissa L. and Wang, Jialu and Torres, Michael J. and Lian, Xizhen and Wang, Xu and Xiao, Yufen and Hodges, Craig A. and Siegwart, Daniel J.
title = {Spray drying siRNA-lipid nanoparticles for dry powder pulmonary delivery},
author = {
Zimmermann, Christoph M. and Baldassi, Domizia and Chan, Karen and Adams, Nathan B.P. and Neumann, Alina and Porras-Gonzalez, Diana Leidy and Wei, Xin and Kneidinger, Nikolaus and Stoleriu, Mircea Gabriel and Burgstaller, Gerald and Witzigmann, Dominik and Luciani, Paola and Merkel, Olivia M.
},
year = 2022,
journal = {Journal of Controlled Release},
volume = 351,
pages = {137--150},
doi = {https://doi.org/10.1016/j.jconrel.2022.09.021},