المؤلفون: Dougherty, G.W. (Gerard), Ostrowski, L.E. (Lawrence), Nöthe-Menchen, T. (Tabea), Raidt, J.F. (Johanna), Schramm, A. (Andre), Olbrich, H. (Heike), Yin, W. (Weining), Sears, P.R. (Patrick), Dang, H. (Hong), Smith, A.J. (Amanda), Beule, A.G. (Achim), Hjeij, R. (Rim), Rutjes, N. (Niels), Haarman, E.G. (Eric), Maas, S.M. (Saskia), Ferkol, T.W. (Thomas), Noone, P.G. (Peadar), Olivier, K.N. (Kenneth), Bracht, D.C. (Diana), Barbry, P. (Pascal), Zaragosi, L. (Laure-Emmanuelle), Fierville, M. (Morgane), Kliesch, S. (Sabine), Wohlgemuth, K. (Kai), König, J. (Julia), George, S. (Sebastian), Loges, N.T. (Niki), Ceppe, A. (Agathe), Markovetz, M.R. (Matthew), Luo, H. (Hong), Guo, T. (Ting), Rizk, H. (Hoda), Eldesoky, T. (Tarek), Dahlke, K. (Katrin), Boldt, K. (Karsten), Ueffing, M. (Marius), Hill, D.B. (David), Pang, Y. (Yuan-Ping), Knowles, M.R. (Michael), Zariwala, M.A. (Maimoona), Omran, H. (Heymut)

المساهمون: Universitäts- und Landesbibliothek Münster

مصطلحات موضوعية: Pseudomonas, infertility, chronic lung disease, ddc:610, info:eu-repo/classification/ddc/610, Medicine and health

وصف الملف: application/pdf

الاتاحة: https://nbn-resolving.org/urn:nbn:de:hbz:6-16928607650
https://doi.org/10.17879/66928491944
https://miami.uni-muenster.de/Record/71cc78db-826b-46fc-a58f-b798061b5f3a
https://repositorium.uni-muenster.de/transfer/miami/71cc78db-826b-46fc-a58f-b798061b5f3a

المؤلفون: Lee, R.E, Lewis, C.A, He, L, Bulik-Sullivan, E.C, Gallant, S.C, Mascenik, T.M, Dang, H, Cholon, D.M, Gentzsch, M, Morton, L.C, Minges, J.T, Theile, J.W, Castle, N.A, Knowles, M.R, Kimple, A.J, Randell, S.H

المصدر: Journal of Clinical Investigation, 132(18)

مصطلحات موضوعية: F actin, cereblon E3 ligase, metabolism, cell migration, airway epithelium cell, SCNN1B gene, protein degradation, female, NIH 3T3 cell line, ivacaftor plus tezacaftor, primary cell, cell line, comparative study, protein expression, mucin 5AC, Mice, tezacaftor, bronchial cell line, stop codon, animal experiment, agents affecting protein metabolism, elexacaftor, CFTR protein, human, unclassified drug, ivacaftor, benzamil, translation termination, gene overexpression, curettage

Relation: https://cdr.lib.unc.edu/downloads/9s161j81h?file=thumbnail; https://cdr.lib.unc.edu/downloads/9s161j81h

الاتاحة: https://doi.org/10.17615/yck5-ft21
https://cdr.lib.unc.edu/downloads/9s161j81h?file=thumbnail
https://cdr.lib.unc.edu/downloads/9s161j81h

المؤلفون: Daniels, M.L.A., Lowe, J.R., Roy, P., Patrone, M.V., Conyers, J.M., Fine, J.P., Knowles, M.R., Birchard, K.R.

المساهمون: UNC CTSA Pilot Grant, National Institute of Health (NIH) – National Heart, Lung, and Blood Institute Fellowship Award T32 Research Training Program, ORDR, Genetic Disorders of Mucociliary Clearance Consortium

المصدر: Clinical Radiology ; volume 70, issue 2, page 146-152 ; ISSN 0009-9260

الاتاحة: http://dx.doi.org/10.1016/j.crad.2014.10.009
https://api.elsevier.com/content/article/PII:S0009926014004863?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0009926014004863?httpAccept=text/plain

المؤلفون: Pappa, A.K., Sullivan, K.M., Lopez, E.M., Adams, K.N., Zanation, A.M., Ebert, C.S., Jr., Thorp, B.D., Senior, B.A., Leigh, M.W., Knowles, M.R., Kimple, A.J.

المساهمون: School of Medicine, Department of Otolaryngology/Head and Neck Surgery, School of Medicine, Marsico Lung Institute/UNC Cystic Fibrosis Center, School of Medicine, Department of Pediatrics

المصدر: American Journal of Rhinology and Allergy, 35(1)

مصطلحات موضوعية: hypoplastic sinus, primary ciliary dyskinesia, sinus development

Relation: https://doi.org/10.17615/6cq7-nh93; https://cdr.lib.unc.edu/downloads/1n79hd57h?file=thumbnail; https://cdr.lib.unc.edu/downloads/1n79hd57h

الاتاحة: https://doi.org/10.17615/6cq7-nh93
https://cdr.lib.unc.edu/downloads/1n79hd57h?file=thumbnail
https://cdr.lib.unc.edu/downloads/1n79hd57h

المؤلفون: Bustamante-Marin, X.M., Shapiro, A., Sears, P.R., Charng, W.-L., Conrad, D.F., Leigh, M.W., Knowles, M.R., Ostrowski, L.E., Zariwala, M.A.

المصدر: Journal of Human Genetics, 65(2)

مصطلحات موضوعية: Proteins, Ciliary Motility Disorders, Mutation, Exons, Whole Exome Sequencing, Cilia, Epithelial Cells, Humans, Alleles, Genetic Variation

Relation: https://doi.org/10.17615/ween-yp48; https://cdr.lib.unc.edu/downloads/nz806536v?file=thumbnail; https://cdr.lib.unc.edu/downloads/nz806536v

الاتاحة: https://doi.org/10.17615/ween-yp48
https://cdr.lib.unc.edu/downloads/nz806536v?file=thumbnail
https://cdr.lib.unc.edu/downloads/nz806536v

المؤلفون: Chivukula, R.R., Montoro, D.T., Leung, H.M., Yang, J., Shamseldin, H.E., Taylor, M.S., Dougherty, G.W., Zariwala, M.A., Carson, J., Daniels, M.L.A., Sears, P.R., Black, K.E., Hariri, L.P., Almogarri, I., Frenkel, E.M., Vinarsky, V., Omran, H., Knowles, M.R., Tearney, G.J., Alkuraya, F.S., Sabatini, D.M.

المصدر: Nature Medicine, 26(2)

مصطلحات موضوعية: Exome, X-Ray Microtomography, Female, Epithelial Cells, Tomography, X-Ray Computed, Microscopy, Video, Cell Separation, Ciliopathies, Humans, Mucociliary Clearance, Flow Cytometry, Young Adult, Mutation, Adult, Adolescent, NIMA-Related Kinases, Respiratory System, Homozygote, Phenotype, Cystic Fibrosis Transmembrane Conductance Regulator, Phase-Contrast, Proteome, HEK293 Cells, Child

Relation: https://doi.org/10.17615/bj4j-t755; https://cdr.lib.unc.edu/downloads/6d570333p?file=thumbnail; https://cdr.lib.unc.edu/downloads/6d570333p

الاتاحة: https://doi.org/10.17615/bj4j-t755
https://cdr.lib.unc.edu/downloads/6d570333p?file=thumbnail
https://cdr.lib.unc.edu/downloads/6d570333p

المؤلفون: Ramsey, K.A., Chen, A.C.H., Radicioni, G., Lourie, R., Martin, M., Broomfield, A., Sheng, Y.H., Hasnain, S.Z., Radford-Smith, G., Simms, L.A., Burr, L., Thornton, D.J., Bowler, S.D., Livengood, S., Ceppe, A., Knowles, M.R., Noone, P.G., Sr., Donaldson, S.H., Hill, D.B., Ehre, C., Button, B., Alexis, N.E., Kesimer, M., Boucher, R.C., McGuckin, M.A.

المصدر: American Journal of Respiratory and Critical Care Medicine, 201(6)

مصطلحات موضوعية: Induced sputum, Gene expression, Mucin

Relation: https://doi.org/10.17615/p5h9-0w98; https://cdr.lib.unc.edu/downloads/nv935851q?file=thumbnail; https://cdr.lib.unc.edu/downloads/nv935851q

الاتاحة: https://doi.org/10.17615/p5h9-0w98
https://cdr.lib.unc.edu/downloads/nv935851q?file=thumbnail
https://cdr.lib.unc.edu/downloads/nv935851q

المؤلفون: Burns, K.A., Vece, T.J., Leigh, M.W., Sullivan, K.M., Yusupov, R., Zariwala, M.A., Sagel, S.D., Knowles, M.R., Dutcher, S.K.

مصطلحات موضوعية: otorhinolaryngologic diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::74916c3ca3f8b4043e4cfb6cab23409c

المؤلفون: Wallmeier, J., Frank, D., Shoemark, A., Nöthe-Menchen, T., Cindric, S., Olbrich, H., Loges, N.T., Aprea, I., Dougherty, G.W., Pennekamp, P., Kaiser, T., Mitchison, H.M., Hogg, C., Carr, S.B., Zariwala, M.A., Ferkol, T., Leigh, M.W., Davis, S.D., Atkinson, J., Dutcher, S.K., Knowles, M.R., Thiele, H., Altmüller, J., Krenz, H., Wöste, M., Brentrup, A., Ahrens, F., Vogelberg, C., Morris-Rosendahl, D.J., Omran, H.

مصطلحات موضوعية: Technology Platforms

Relation: De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry. Wallmeier, J. and Frank, D. and Shoemark, A. and Nöthe-Menchen, T. and Cindric, S. and Olbrich, H. and Loges, N.T. and Aprea, I. and Dougherty, G.W. and Pennekamp, P. and Kaiser, T. and Mitchison, H.M. and Hogg, C. and Carr, S.B. and Zariwala, M.A. and Ferkol, T. and Leigh, M.W. and Davis, S.D. and Atkinson, J. and Dutcher, S.K. and Knowles, M.R. and Thiele, H. and Altmüller, J. and Krenz, H. and Wöste, M. and Brentrup, A. and Ahrens, F. and Vogelberg, C. and Morris-Rosendahl, D.J. and Omran, H. American Journal of Human Genetics 105 (5): 1030-1039. 7 November 2019

الاتاحة: http://edoc.mdc-berlin.de/20583/
https://edoc.mdc-berlin.de/20583/
https://doi.org/10.1016/j.ajhg.2019.09.022

المؤلفون: Bustamante-Marin, X.M., Yin, W.-N., Sears, P.R., Werner, M.E., Brotslaw, E.J., Mitchell, B.J., Jania, C.M., Zeman, K.L., Rogers, T.D., Herring, L.E., Refabért, L., Thomas, L., Amselem, S., Escudier, E., Legendre, M., Grubb, B.R., Knowles, M.R., Zariwala, M.A., Ostrowski, L.E.

المصدر: American Journal of Human Genetics, 104(2)

مصطلحات موضوعية: mucociliary clearance, primary ciliary dyskinesia, ciliary orientation, MCC, GAS2L2, PCD

Relation: https://doi.org/10.17615/chvh-pd06; https://cdr.lib.unc.edu/downloads/sq87c1179?file=thumbnail; https://cdr.lib.unc.edu/downloads/sq87c1179

الاتاحة: https://doi.org/10.17615/chvh-pd06
https://cdr.lib.unc.edu/downloads/sq87c1179?file=thumbnail
https://cdr.lib.unc.edu/downloads/sq87c1179

المؤلفون: Zysman-Colman, Z.N., Kaspy, K.R., Alizadehfar, R., NyKamp, K.R., Zariwala, M.A., Knowles, M.R., Vinh, D.C., Shapiro, A.J.

المصدر: Journal of Clinical Immunology, 39(2)

مصطلحات موضوعية: primary immunodeficiency, Primary ciliary dyskinesia, nasal nitric oxide

Relation: https://doi.org/10.17615/2g8k-8j40; https://cdr.lib.unc.edu/downloads/q524jv339?file=thumbnail; https://cdr.lib.unc.edu/downloads/q524jv339

الاتاحة: https://doi.org/10.17615/2g8k-8j40
https://cdr.lib.unc.edu/downloads/q524jv339?file=thumbnail
https://cdr.lib.unc.edu/downloads/q524jv339

المؤلفون: Davis, S.D., Rosenfeld, M., Lee, H.-S., Ferkol, T.W., Sagel, S.D., Dell, S.D., Milla, C., Pittman, J.E., Shapiro, A.J., Sullivan, K.M., Nykamp, K.R., Krischer, J.P., Zariwala, M.A., Knowles, M.R., Leigh, M.W.

المصدر: American Journal of Respiratory and Critical Care Medicine, 199(2)

مصطلحات موضوعية: Cilia, Respiratory function tests, Kartagener syndrome

Relation: https://doi.org/10.17615/94tc-6n65; https://cdr.lib.unc.edu/downloads/tt44pt07s?file=thumbnail; https://cdr.lib.unc.edu/downloads/tt44pt07s

الاتاحة: https://doi.org/10.17615/94tc-6n65
https://cdr.lib.unc.edu/downloads/tt44pt07s?file=thumbnail
https://cdr.lib.unc.edu/downloads/tt44pt07s

المؤلفون: Hannah, W.B., DeBrosse, S., Kinghorn, B., Strausbaugh, S., Aitken, M.L., Rosenfeld, M., Wolf, W.E., Knowles, M.R., Zariwala, M.A.

المصدر: Molecular Genetics and Genomic Medicine, 7(9)

مصطلحات موضوعية: OFD1, Primary ciliary dyskinesia

Relation: https://doi.org/10.17615/1yqv-dj77; https://cdr.lib.unc.edu/downloads/hx11xm973?file=thumbnail; https://cdr.lib.unc.edu/downloads/hx11xm973

الاتاحة: https://doi.org/10.17615/1yqv-dj77
https://cdr.lib.unc.edu/downloads/hx11xm973?file=thumbnail
https://cdr.lib.unc.edu/downloads/hx11xm973

المؤلفون: Morimoto, K., Hijikata, M., Zariwala, M.A., Nykamp, K., Inaba, A., Guo, T.-C., Yamada, H., Truty, R., Sasaki, Y., Ohta, K., Kudoh, S., Leigh, M.W., Knowles, M.R., Keicho, N.

المصدر: Molecular Genetics and Genomic Medicine, 7(8)

مصطلحات موضوعية: DRC1, recurrent mutation, diffuse panbronchiolitis, primary ciliary dyskinesia, Asia

Relation: https://doi.org/10.17615/8wkh-4731; https://cdr.lib.unc.edu/downloads/6108vh65m?file=thumbnail; https://cdr.lib.unc.edu/downloads/6108vh65m

الاتاحة: https://doi.org/10.17615/8wkh-4731
https://cdr.lib.unc.edu/downloads/6108vh65m?file=thumbnail
https://cdr.lib.unc.edu/downloads/6108vh65m

المؤلفون: Seabrook, G.R., McAllister, G., Knowles, M.R., Myers, J., Sinclair, H., Patel, S., Freedman, S.B., Kemp, J.A.

المصدر: British Journal of Pharmacology ; volume 111, issue 4, page 1061-1066 ; ISSN 0007-1188 1476-5381

الاتاحة: http://dx.doi.org/10.1111/j.1476-5381.1994.tb14852.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1476-5381.1994.tb14852.x
https://bpspubs.onlinelibrary.wiley.com/doi/pdf/10.1111/j.1476-5381.1994.tb14852.x

المؤلفون: Seabrook, G.R., Patel, S., Marwood, R., Emms, F., Knowles, M.R., Freedman, S.B., McAllister, G.

المصدر: FEBS Letters ; volume 312, issue 2-3, page 123-126 ; ISSN 0014-5793 1873-3468

الاتاحة: http://dx.doi.org/10.1016/0014-5793(92)80918-7
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2F0014-5793%2892%2980918-7
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2F0014-5793(92)80918-7
https://febs.onlinelibrary.wiley.com/doi/pdf/10.1016/0014-5793%2892%2980918-7

المؤلفون: Gee, N.S., Knowles, M.R., McAllister, G., Ragan, C.I.

المصدر: FEBS Letters ; volume 284, issue 1, page 95-97 ; ISSN 0014-5793 1873-3468

الاتاحة: http://dx.doi.org/10.1016/0014-5793(91)80770-4
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2F0014-5793%2891%2980770-4
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2F0014-5793(91)80770-4
https://febs.onlinelibrary.wiley.com/doi/pdf/10.1016/0014-5793%2891%2980770-4

المؤلفون: Shapiro, A.J., Davis, S.D., Polineni, D., Manion, M., Rosenfeld, M., Dell, S.D., Chilvers, M.A., Ferkol, T.W., Zariwala, M.A., Sagel, S.D., Josephson, M., Morgan, L., Yilmaz, O., Olivier, K.N., Milla, C., Pittman, J.E., Leigh Anne Daniels, M., Jones, M.H., Janahi, I.A., Ware, S.M., Daniel, S.J., Cooper, M.L., Nogee, L.M., Anton, B., Eastvold, T., Ehrne, L., Guadagno, E., Knowles, M.R., Leigh, M.W., Lavergne, V.

المصدر: American Journal of Respiratory and Critical Care Medicine, 197(12)

مصطلحات موضوعية: Nitric oxide, Kartagener syndrome, Diagnosis, Situs inversus, Primary ciliary dyskinesia

Relation: https://doi.org/10.17615/br4d-bs09; https://cdr.lib.unc.edu/downloads/2n49t761b?file=thumbnail; https://cdr.lib.unc.edu/downloads/2n49t761b

الاتاحة: https://doi.org/10.17615/br4d-bs09
https://cdr.lib.unc.edu/downloads/2n49t761b?file=thumbnail
https://cdr.lib.unc.edu/downloads/2n49t761b

المؤلفون: O'Neal, W.K., Knowles, M.R.

المصدر: Annual Review of Genomics and Human Genetics, 19

مصطلحات موضوعية: cystic fibrosis, genetic modifiers, GWAS, HLA, CF-related diabetes, lung disease severity

Relation: https://doi.org/10.17615/w681-tt85; https://cdr.lib.unc.edu/downloads/p2677177f?file=thumbnail; https://cdr.lib.unc.edu/downloads/p2677177f

الاتاحة: https://doi.org/10.17615/w681-tt85
https://cdr.lib.unc.edu/downloads/p2677177f?file=thumbnail
https://cdr.lib.unc.edu/downloads/p2677177f

المؤلفون: Dang, H., Gallins, P.J., Pace, R.G., Guo, X.-L., Stonebraker, J.R., Corvol, H., Cutting, G.R., Drumm, M.L., Strug, L.J., Knowles, M.R., O'Neal, W.K.

المصدر: Human Genome Variation, 3

مصطلحات موضوعية: spacer DNA, phenylalanine, microsatellite DNA

Relation: https://doi.org/10.17615/4rtx-q881; https://cdr.lib.unc.edu/downloads/z029pb394?file=thumbnail; https://cdr.lib.unc.edu/downloads/z029pb394

الاتاحة: https://doi.org/10.17615/4rtx-q881
https://cdr.lib.unc.edu/downloads/z029pb394?file=thumbnail
https://cdr.lib.unc.edu/downloads/z029pb394