المؤلفون: Park, Jeffrey KiHyun, Shrivastava, Anura, Zhang, Chengkang, Pollok, Brian A, Finkbeiner, Walter E, Gibb, Elizabeth R, Ly, Ngoc P, Illek, Beate

مصطلحات موضوعية: Rare Diseases, Cystic Fibrosis, Orphan Drug, Lung, Good Health and Well Being, Cystic fibrosis, mutation-specific CFTR function analysis, CFTRdele2, 3(21kb) (c, 54-5940_270+10250del21 kb, p, Ser18ArgfsX16), c, 850dupA (977insA, Met284Asnfs), R334W (c, 1000C>T, Arg334Trp), 406-1G->A (c, 274-1G>A), R117H-7T (c, 350G>A, Arg117His), F508del (c, 1521_1523delCTT, Phe508del), 3(21kb) (c.54-5940_270+10250del21 kb, 406-1G->A, F508del (c.1521_1523delCTT, R117H-7T (c.350G>A, R334W (c.1000C>T, c.850dupA (977insA, p.Arg117His), p.Arg334Trp), p.Met284Asnfs), p.Phe508del), p.Ser18ArgfsX16), Paediatrics and Reproductive Medicine, Other Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2n72q3hk
https://escholarship.org/content/qt2n72q3hk/qt2n72q3hk.pdf

المؤلفون: Leonardo Souza Marques, Matheus Negri Boschiero, Nathália Mariana Santos Sansone, Letícia Rulli Brienze, Fernando Augusto Lima Marson

المصدر: Healthcare; Volume 11; Issue 13; Pages: 1936

مصطلحات موضوعية: Brazil, CFTR, epidemiology, p.Phe508del, SARS-CoV-2, mucoviscidosis, severity, systematic review, worldwide

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/healthcare11131936

الاتاحة: https://doi.org/10.3390/healthcare11131936

المؤلفون: Seisel, Quentin, Lakumpa, Israpong, Josse, Emilie, Vivès, Eric, Varilh, Jessica, Taulan, Magali, Boisguérin, Prisca

المساهمون: Centre de recherche en Biologie cellulaire de Montpellier (CRBM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), ANR-10-SATT-0006,SATT AxLR,SATT AxLR (EX LANGUEDOC ROUSSILLON)(2010)

المصدر: ISSN: 1999-4923 ; Pharmaceutics ; https://hal.science/hal-03650073 ; Pharmaceutics, 2022, 14 (4), pp.808. ⟨10.3390/pharmaceutics14040808⟩.

مصطلحات موضوعية: CFTR stabilizer, CFTR-CAL interaction, Cell-penetrating peptide, Cystic fibrosis, Internalization mechanism, p.Phe508del mutant, [SDV]Life Sciences [q-bio]

Relation: PUBMEDCENTRAL: PMC9032934

الاتاحة: https://hal.science/hal-03650073
https://hal.science/hal-03650073v1/document
https://hal.science/hal-03650073v1/file/pharmaceutics-14-00808.pdf
https://doi.org/10.3390/pharmaceutics14040808

المؤلفون: Quentin Seisel, Israpong Lakumpa, Emilie Josse, Eric Vivès, Jessica Varilh, Magali Taulan-Cadars, Prisca Boisguérin

المساهمون: MORNET, Dominique, Centre de recherche en Biologie cellulaire de Montpellier (CRBM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)

المصدر: Pharmaceutics; Volume 14; Issue 4; Pages: 808
Pharmaceutics
Pharmaceutics, 2022, 14 (4), pp.808. ⟨10.3390/pharmaceutics14040808⟩

مصطلحات موضوعية: [SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], CFTR-CAL interaction, Internalization mechanism, p.Phe508del mutant, Pharmaceutical Science, CFTR stabilizer, Cell-penetrating peptide, cell-penetrating peptide, internalization mechanism, cystic fibrosis, Cystic fibrosis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ab82e58376ed9173ceda6f65a2e63d6
https://pubmed.ncbi.nlm.nih.gov/35456644

المؤلفون: Brian A. Pollok, Anura Shrivastava, Ngoc P. Ly, Jeffrey KiHyun Park, Walter E. Finkbeiner, Elizabeth R. Gibb, Chengkang Zhang, Beate Illek

المصدر: Frontiers in Pediatrics, Vol 8 (2020)

مصطلحات موضوعية: Cystic Fibrosis, p.Phe508del), Mutant, F508del (c, mutation-specific CFTR function analysis, 030204 cardiovascular system & hematology, Cystic fibrosis, Ivacaftor, chemistry.chemical_compound, 0302 clinical medicine, R117H-7T (c, R334W (c, Genotype, CFTRdele2, Lung, Forskolin, Ser18ArgfsX16), 350G>A, Lumacaftor, lcsh:RJ1-570, respiratory system, medicine.anatomical_structure, p.Met284Asnfs), 1000C>T, p.Arg334Trp), 1521_1523delCTT, 274-1G>A), p.Ser18ArgfsX16), 406-1G->A, Phe508del), medicine.drug, c.850dupA (977insA, 850dupA (977insA, Met284Asnfs), 3(21kb) (c.54-5940_270+10250del21 kb, 406-1G->A (c, 54-5940_270+10250del21 kb, Paediatrics and Reproductive Medicine, 03 medical and health sciences, Rare Diseases, 030225 pediatrics, medicine, F508del (c.1521_1523delCTT, R117H-7T (c.350G>A, Other Medical and Health Sciences, Arg334Trp), business.industry, Wild type, lcsh:Pediatrics, Arg117His), medicine.disease, p.Arg117His), Molecular biology, Epithelium, 3(21kb) (c, Orphan Drug, Good Health and Well Being, chemistry, Pediatrics, Perinatology and Child Health, R334W (c.1000C>T, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8a18cc9f61307352d1d8d2e5fc43f2e
https://escholarship.org/uc/item/2n72q3hk

المؤلفون: Claire Guissart, Victoria Viart, Eric Bieth, Anne Girardet, Cécile Rouzier, Marie-Claire Vincent, Vanessa Debant, Mireille Claustres, Philippe Khau Van Kien, Emmanuelle Haquet, Caroline Raynal, Marie-Pierre Brechard, Frédéric Tran Mau Them, Michel Koenig, Jacques Puechberty, Charlotte Dubucs, Victoria Pritchard, Amandine Boureau-Wirth

المساهمون: Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University of Florida [Gainesville] (UF), Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Dpt génétique médicale [CHU Nice], Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Montpellier, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), CHU Toulouse [Toulouse]

المصدر: Fetal Diagnosis and Therapy
Fetal Diagnosis and Therapy, Karger, 2019, 45 (6), pp.403-412. ⟨10.1159/000489776⟩

مصطلحات موضوعية: Embryology, [SDV]Life Sciences [q-bio], Cystic Fibrosis Transmembrane Conductance Regulator, Prenatal diagnosis, Locus (genetics), Bioinformatics, Cystic fibrosis, p.Phe508del, 03 medical and health sciences, 0302 clinical medicine, Cell-free fetal DNA, Prenatal Diagnosis, Multiplex polymerase chain reaction, medicine, Humans, Radiology, Nuclear Medicine and imaging, 030212 general & internal medicine, Allele, 030219 obstetrics & reproductive medicine, business.industry, Haplotype, Haplotyping, Obstetrics and Gynecology, General Medicine, Multiplex PCR, medicine.disease, 3. Good health, Haplotypes, Pediatrics, Perinatology and Child Health, Microsatellite, business, Cell-Free Nucleic Acids, Multiplex Polymerase Chain Reaction, Noninvasive prenatal diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5243e143fc178a947bc04165f5bebd52
https://hal.umontpellier.fr/hal-02434874

المؤلفون: Jeffrey KiHyun Park, Anura Shrivastava, Chengkang Zhang, Brian A. Pollok, Walter E. Finkbeiner, Elizabeth R. Gibb, Ngoc P. Ly, Beate Illek

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, Cystic fibrosis, mutation-specific CFTR function analysis, CFTRdele2, 3(21kb) (c.54-5940_270+10250del21 kb, p.Ser18ArgfsX16), c.850dupA (977insA, p.Met284Asnfs), R334W (c.1000C>T, p.Arg334Trp), 406-1G->A (c.274-1G>A), R117H-7T (c.350G>A, p.Arg117His), F508del (c.1521_1523delCTT, p.Phe508del)

Relation: https://figshare.com/articles/figure/Image_2_Functional_Profiling_of_CFTR-Directed_Therapeutics_Using_Pediatric_Patient-Derived_Nasal_Epithelial_Cell_Models_jpg/12918434

الاتاحة: https://doi.org/10.3389/fped.2020.00536.s003
https://figshare.com/articles/figure/Image_2_Functional_Profiling_of_CFTR-Directed_Therapeutics_Using_Pediatric_Patient-Derived_Nasal_Epithelial_Cell_Models_jpg/12918434

المؤلفون: Jeffrey KiHyun Park, Anura Shrivastava, Chengkang Zhang, Brian A. Pollok, Walter E. Finkbeiner, Elizabeth R. Gibb, Ngoc P. Ly, Beate Illek

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, Cystic fibrosis, mutation-specific CFTR function analysis, CFTRdele2, 3(21kb) (c.54-5940_270+10250del21 kb, p.Ser18ArgfsX16), c.850dupA (977insA, p.Met284Asnfs), R334W (c.1000C>T, p.Arg334Trp), 406-1G->A (c.274-1G>A), R117H-7T (c.350G>A, p.Arg117His), F508del (c.1521_1523delCTT, p.Phe508del)

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Functional_Profiling_of_CFTR-Directed_Therapeutics_Using_Pediatric_Patient-Derived_Nasal_Epithelial_Cell_Models_pdf/12918428

الاتاحة: https://doi.org/10.3389/fped.2020.00536.s001
https://figshare.com/articles/dataset/Data_Sheet_1_Functional_Profiling_of_CFTR-Directed_Therapeutics_Using_Pediatric_Patient-Derived_Nasal_Epithelial_Cell_Models_pdf/12918428

المؤلفون: Guissart, Claire, Tran mau them, Frédéric, Debant, Vanessa, Viart, Victoria, Dubucs, Charlotte, Pritchard, Victoria, Rouzier, Cécile, Boureau-Wirth, Amandine, Haquet, Emmanuelle, Puechberty, Jacques, Bieth, Eric, Khau van kien, Philippe, Brechard, Marie-Pierre, Raynal, Caroline, Girardet, Anne, Claustres, Mireille, Koenig, Michel, Vincent, Marie-Claire

المساهمون: Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), University of Florida Gainesville (UF), Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA), Dpt génétique médicale CHU Nice, Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Montpellier, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)

المصدر: ISSN: 1015-3837.

مصطلحات موضوعية: Cell-free fetal DNA, Cystic fibrosis, Haplotyping, Multiplex PCR, Noninvasive prenatal diagnosis, p.Phe508del, [SDV]Life Sciences [q-bio]

Relation: hal-02434874; https://hal.umontpellier.fr/hal-02434874

الاتاحة: https://hal.umontpellier.fr/hal-02434874
https://doi.org/10.1159/000489776

المؤلفون: D. Dupin Deguine, C. Dubucs, Mireille Claustres, A. Girardet, P. Khau Van Kien, C. Rouzier, Marie-Pierre Brechard, F. Tran Mau Them, Michel Koenig, Amandine Boureau-Wirth, Marie-Claire Vincent, Vanessa Debant, Eric Bieth, Claire Guissart, Emmanuelle Haquet, Jacques Puechberty, C. Raynal, Victoria Pritchard

المساهمون: Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Aide à la Décision pour une Médecine Personnalisé - Laboratoire de Biostatistique, Epidémiologie et Recherche Clinique - EA 2415 (AIDMP), Université Montpellier 1 (UM1)-Université de Montpellier (UM), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Dpt génétique médicale [CHU Nice], Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Toulouse [Toulouse], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Hôpital Saint-Joseph [Marseille]

المصدر: Journal of Cystic Fibrosis
Journal of Cystic Fibrosis, Elsevier, 2017, 16 (2), pp.198-206. ⟨10.1016/j.jcf.2016.12.011⟩

مصطلحات موضوعية: 0301 basic medicine, Pulmonary and Respiratory Medicine, Adult, Comparative Effectiveness Research, Chorionic villus sampling, Cystic Fibrosis Transmembrane Conductance Regulator, Prenatal diagnosis, Locus (genetics), Bioinformatics, Polymerase Chain Reaction, p.Phe508del, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Cystic fibrosis, NIPD, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, medicine, Humans, Digital polymerase chain reaction, Multiplex, Allele, Genetics, medicine.diagnostic_test, business.industry, Non-invasive prenatal diagnosis, Electrophoresis, Capillary, Reproducibility of Results, 3. Good health, 030104 developmental biology, Cell-free fetal DNA, Chorionic Villi Sampling, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Mutation, Amniocentesis, MEMO-PCR, cff-DNA, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d62f39c6e0b4126705f338fc37386de
https://hal.archives-ouvertes.fr/hal-01792996

المؤلفون: Guissart, C., Dubucs, C., Raynal, C., Girardet, A., Tran Mau Them, F., Debant, V., Rouzier, C., Boureau-Wirth, A., Haquet, E., Puechberty, J., Bieth, E., Dupin Deguine, D., Khau van Kien, P., Brechard, M., Pritchard, V., Koenig, Michel, Claustres, M., Vincent, M.C.

المساهمون: Département de génétique médicale, maladies rares et médecine personnalisée CHRU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Aide à la Décision pour une Médecine Personnalisé - Laboratoire de Biostatistique, Epidémiologie et Recherche Clinique - EA 2415 (AIDMP), Université Montpellier 1 (UM1)-Université de Montpellier (UM), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Dpt génétique médicale CHU Nice, Centre Hospitalier Universitaire de Nice (CHU Nice), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Hôpital Saint-Joseph Marseille

المصدر: ISSN: 1569-1993.

مصطلحات موضوعية: Cystic fibrosis, MEMO-PCR, NIPD, Non-invasive prenatal diagnosis, cff-DNA, p.Phe508del, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract

Relation: info:eu-repo/semantics/altIdentifier/pmid/28040480; hal-01792996; https://hal.science/hal-01792996; PUBMED: 28040480

الاتاحة: https://hal.science/hal-01792996
https://doi.org/10.1016/j.jcf.2016.12.011

المؤلفون: Silke Hedtfeld, Tim Becker, Frauke Stanke, Burkhard Tümmler, Andrea van Barneveld, Stefan Wölfl

المصدر: European Journal of Human Genetics
European journal of human genetics 22(5), 660-666 (2013). doi:10.1038/ejhg.2013.209

مصطلحات موضوعية: Candidate gene, Glycosylation, Cystic Fibrosis, Genotype, Cystic Fibrosis Transmembrane Conductance Regulator, EHF protein, human, association study, genetics [Cystic Fibrosis Transmembrane Conductance Regulator], Cystic fibrosis, Article, metabolism [Cystic Fibrosis Transmembrane Conductance Regulator], Gene Frequency, genetics [Cystic Fibrosis], Genetics, medicine, Humans, ddc:610, metabolism [Epithelial Cells], Alleles, transcription factor, Genetics (clinical), Regulation of gene expression, biology, Gene Expression Profiling, metabolism [Cystic Fibrosis], ETS Homologous Factor, Epithelial Cells, genetics [Transcription Factors], Apical membrane, medicine.disease, c.1521_1523delCTT (p.Phe508del, Molecular biology, Cystic fibrosis transmembrane conductance regulator, Amiloride, Transport protein, endophenotype, Protein Transport, cystic fibrosis modifier gene, Gene Expression Regulation, Genetic Loci, biology.protein, F508del) in CFTR, Carrier Proteins, transcriptome, Protein Binding, Transcription Factors, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a49b1e1dfff531e80706c3bcf1279f04
https://doi.org/10.1038/ejhg.2013.209

المؤلفون: Tabaripour, Reza, Niaki, Haleh Akhavan, Douki, Mohammad Reza Esmaeeli, Bazzaz, Javad Tavakkoly, Larijani, Bagher, Yaghmaei, Parichehr

المصدر: Disease markers
Disease Markers, Vol 32, Iss 4, Pp 241-246 (2012)

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Cystic Fibrosis, DNA Mutational Analysis, Clinical Biochemistry, Cystic Fibrosis Transmembrane Conductance Regulator, Iran, p.Phe508del, White People, polymorphism, Genetics, Humans, Child, Molecular Biology, Genetic Association Studies, lcsh:R5-920, IVS8 polyT, Polymorphism, Genetic, Base Sequence, Biochemistry (medical), Infant, General Medicine, Child, Preschool, Female, Other, lcsh:Medicine (General), Thymidine

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca1dc07977f53fec16d7babbf32678b3
https://doi.org/10.1155/2012/910729

المؤلفون: Mehta, Gita, Macek, Milan, Mehta, Anil

المصدر: Mehta , G , Macek , M , Mehta , A & European Registry Working Grp 2010 , ' Cystic fibrosis across Europe: EuroCareCF analysis of demographic data from 35 countries ' , Journal of Cystic Fibrosis , vol. 9 , no. S2 , pp. S5-S21 . https://doi.org/10.1016/j.jcf.2010.08.002

مصطلحات موضوعية: Database, Rare disease, Geography, Chronic disease, Genetics, p.Phe508del, CFTR, UK, POPULATION, AGE, SEGREGATION, MUTATIONS, MORTALITY, SURVIVAL, OUTCOMES, CF

Relation: https://discovery.dundee.ac.uk/en/publications/98f749a3-ddd2-44ce-aa11-08518d4a3cba

الاتاحة: https://discovery.dundee.ac.uk/en/publications/98f749a3-ddd2-44ce-aa11-08518d4a3cba
https://doi.org/10.1016/j.jcf.2010.08.002

المؤلفون: Mehta, Gita, Macek, Milan, Mehta, Anil

المساهمون: Dumčius, Sigitas

المصدر: Journal of cystic fibrosis, Amsterdam : Elsevier Science BV, 2010, vol. 9, suppl. 2, p. S5-S21 ; ISSN 1569-1993

مصطلحات موضوعية: Database, Rare disease, Geography, Chronic disease, Genetics, P.Phe508del, CFTR, demo, geo

Relation: http://vu.lvb.lt/VU:ELABAPDB6167917&prefLang=en_US

الاتاحة: http://vu.lvb.lt/VU:ELABAPDB6167917&prefLang=en_US