Olfactory Dysfunction in Primary Ciliary Dyskinesia

Authors: Zainab Farzal, Kelli M. Sullivan, Maimoona A. Zariwala, Brian D. Thorp, Brent A. Senior, Charles S. Ebert Jr, Stephanie Davis, Margaret W. Leigh, Michael R. Knowles, Adam J. Kimple

Source: OTO Open, Vol 9, Iss 1, Pp n/a-n/a (2025)

Subject Terms: chronic rhinosinusitis, motility disorder, primary ciliary dyskinesia, Otorhinolaryngology, RF1-547, Surgery, RD1-811

File Description: electronic resource

Relation: https://doaj.org/toc/2473-974X

Access URL: https://doaj.org/article/5d9cfa33f63743eda8b9c9300ba7b27e

Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood

Authors: Isabelle Dagher, Adam J. Kimple, Thomas W. Ferkol, Scott D. Sagel, Sharon D. Dell, Carlos E. Milla, Lang Li, Feng‐Chang Lin, Kelli M. Sullivan, Maimoona A. Zariwala, Michael R. Knowles, Margaret Rosenfeld, Margaret W. Leigh, Stephanie D. Davis, for the Genetic Disorders of Mucociliary Clearance Consortium

Source: OTO Open, Vol 9, Iss 1, Pp n/a-n/a (2025)

Subject Terms: hearing loss, immotile cilia syndrome, Kartagener's syndrome, sinusitis, Otorhinolaryngology, RF1-547, Surgery, RD1-811

File Description: electronic resource

Relation: https://doaj.org/toc/2473-974X

Access URL: https://doaj.org/article/fbabd9131228474089f3f4b237a4977a

Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough

Authors: Rhianna E. Lee, Catherine A. Lewis, Lihua He, Emily C. Bulik-Sullivan, Samuel C. Gallant, Teresa M. Mascenik, Hong Dang, Deborah M. Cholon, Martina Gentzsch, Lisa C. Morton, John T. Minges, Jonathan W. Theile, Neil A. Castle, Michael R. Knowles, Adam J. Kimple, Scott H. Randell

Source: The Journal of Clinical Investigation, Vol 132, Iss 18 (2022)

Subject Terms: Pulmonology, Therapeutics, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1558-8238

Access URL: https://doaj.org/article/0342006f024949bb976f55db34ef1e17

Accounting for population structure in genetic studies of cystic fibrosis

Authors: Hanley Kingston, Adrienne M. Stilp, William Gordon, Jai Broome, Stephanie M. Gogarten, Hua Ling, John Barnard, Shannon Dugan-Perez, Patrick T. Ellinor, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Namrata Gupta, Kenneth Rice, Albert V. Smith, Michael C. Zody, Scott M. Blackman, Garry Cutting, Michael R. Knowles, Yi-Hui Zhou, Margaret Rosenfeld, Ronald L. Gibson, Michael Bamshad, Alison Fohner, Elizabeth E. Blue

Source: HGG Advances, Vol 3, Iss 3, Pp 100117- (2022)

Subject Terms: CFTR F508del, population structure, genome-wide association study, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000331; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/904422004e45433aa8eb9faa3da1427a

Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients

Authors: Quan Sun, Weifang Liu, Jonathan D. Rosen, Le Huang, Rhonda G. Pace, Hong Dang, Paul J. Gallins, Elizabeth E. Blue, Hua Ling, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Ronald L. Gibson, Elizabeth W. Pugh, Scott M. Blackman, Garry R. Cutting, Wanda K. O'Neal, Yi-Hui Zhou, Fred A. Wright, Michael R. Knowles, Jia Wen, Yun Li

Source: HGG Advances, Vol 3, Iss 2, Pp 100090- (2022)

Subject Terms: genotype imputation, mendelian disease, cystic fibrosis, polygenic risk score, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000069; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/fe44bcc7f71a44b0aed41471c1966ed7

Primary ciliary dyskinesia in Japan: systematic review and meta-analysis

Authors: Atsushi Inaba, Masanori Furuhata, Kozo Morimoto, Mahbubur Rahman, Osamu Takahashi, Minako Hijikata, Michael R. Knowles, Naoto Keicho

Source: BMC Pulmonary Medicine, Vol 19, Iss 1, Pp 1-11 (2019)

Subject Terms: Systematic review, Meta-analysis, Primary ciliary dyskinesia, Immotile cilia syndrome, Kartagener syndrome, Electron microscopy, Diseases of the respiratory system, RC705-779

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12890-019-0897-4; https://doaj.org/toc/1471-2466

Access URL: https://doaj.org/article/0ea7a26dae6244369ccce874e5ba0876

Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus

Authors: Adam J. Shapiro, Kimberley Kaspy, M. Leigh Ann Daniels, Jaclyn R. Stonebraker, Van‐Hung Nguyen, Lyne Joyal, Michael R. Knowles, Maimoona A. Zariwala

Source: Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/88d3f62e6430487ba83e8d3d4331ea81

The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

Authors: William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala

Source: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)

Subject Terms: OFD1, Primary ciliary dyskinesia, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/05925ae70dfb4d988f4b54da6cd65b90

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients

Authors: Kozo Morimoto, Minako Hijikata, Maimoona A. Zariwala, Keith Nykamp, Atsushi Inaba, Tz‐Chun Guo, Hiroyuki Yamada, Rebecca Truty, Yuka Sasaki, Ken Ohta, Shoji Kudoh, Margaret W. Leigh, Michael R. Knowles, Naoto Keicho

Source: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)

Subject Terms: Asia, diffuse panbronchiolitis, DRC1, primary ciliary dyskinesia, recurrent mutation, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/a8502e011c034d7aa76fe2a194379d0c

Standardized procedure for measurement of nasal potential difference: An outcome measure in multicenter cystic fibrosis clinical trials (Previous presentation: NACFF Poster, 2001. Standaert TA, Zeitlin PL, Brass L, Konstan M, Noone PG, Boitano L, Emerson J, Milgram L, Hunter J, Hammond K, Foy C, Berclaz P-Y, Davies Z, Knowles MR. Nasal potential difference measurements from 8 CF centers utilizing a recently developed standardized operating procedure. Pediatr Pulmonol 2001;32:22.)

Authors: Thomas A. Standaert, Louis Boitano, Julia Emerson, Laura J.H. Milgram, Michael W. Konstan, Janice Hunter, Pierre-Yves Berclaz, Lois Brass, Pamela L. Zeitlin, Keith Hammond, Zoe Davies, Carla Foy, Peadar G. Noone, Michael R. Knowles

Source: Pediatric Pulmonology; May2004, Vol. 37 Issue 5, p385-392, 8p

Multiplex proteomic analysis by two-dimensional differential in-gel electrophoresis.

Authors: Michael R. Knowles, Sandra Cervino, Heather A. Skynner, Stephen P. Hunt, Carmen de Felipe, Kamran Salim, Georgina Meneses-Lorente, George McAllister, Paul C. Guest

Source: Proteomics; Jul2003, Vol. 3 Issue 7, p1162-1171, 10p

Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.

Authors: Ximena M Bustamante-Marin, Amjad Horani, Mihaela Stoyanova, Wu-Lin Charng, Mathieu Bottier, Patrick R Sears, Wei-Ning Yin, Leigh Anne Daniels, Hailey Bowen, Donald F Conrad, Michael R Knowles, Lawrence E Ostrowski, Maimoona A Zariwala, Susan K Dutcher

Source: PLoS Genetics, Vol 16, Iss 8, p e1008691 (2020)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/ed560ccc4d4b41219172bc6473260ff5

Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation.

Authors: Hong Dang, Deepika Polineni, Rhonda G Pace, Jaclyn R Stonebraker, Harriet Corvol, Garry R Cutting, Mitchell L Drumm, Lisa J Strug, Wanda K O'Neal, Michael R Knowles

Source: PLoS ONE, Vol 15, Iss 11, p e0239189 (2020)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/8c1afe02419b4d98ad3f33a6e9cdaaad

Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.

Authors: Jiafen Gong, Fan Wang, Bowei Xiao, Naim Panjwani, Fan Lin, Katherine Keenan, Julie Avolio, Mohsen Esmaeili, Lin Zhang, Gengming He, David Soave, Scott Mastromatteo, Zeynep Baskurt, Sangook Kim, Wanda K O'Neal, Deepika Polineni, Scott M Blackman, Harriet Corvol, Garry R Cutting, Mitchell Drumm, Michael R Knowles, Johanna M Rommens, Lei Sun, Lisa J Strug

Source: PLoS Genetics, Vol 15, Iss 2, p e1008007 (2019)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/3c571d7e43ec4d68b05079348aa2ac8e

Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibrosis population.

Authors: Deepika Polineni, Annalisa V Piccorelli, William B Hannah, Sarah N Dalrymple, Rhonda G Pace, Peter R Durie, Simon C Ling, Michael R Knowles, Jaclyn R Stonebraker

Source: PLoS ONE, Vol 13, Iss 10, p e0205257 (2018)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC6181334?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/d610d9ed73a640a49d3eeb82b2a77946

Early childhood lung function is a stronger predictor of adolescent lung function in cystic fibrosis than early Pseudomonas aeruginosa infection.

Authors: Jessica E Pittman, Hannah Noah, Hollin E Calloway, Stephanie D Davis, Margaret W Leigh, Mitchell Drumm, Scott D Sagel, Frank J Accurso, Michael R Knowles, Marci K Sontag

Source: PLoS ONE, Vol 12, Iss 5, p e0177215 (2017)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC5432103?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/0fb2327c92db43f1927139cc46740a49

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.

Authors: Wesley R Lewis, Erik B Malarkey, Douglas Tritschler, Raqual Bower, Raymond C Pasek, Jonathan D Porath, Susan E Birket, Sophie Saunier, Corinne Antignac, Michael R Knowles, Margaret W Leigh, Maimoona A Zariwala, Anil K Challa, Robert A Kesterson, Steven M Rowe, Iain A Drummond, John M Parant, Friedhelm Hildebrandt, Mary E Porter, Bradley K Yoder, Nicolas F Berbari

Source: PLoS Genetics, Vol 12, Iss 7, p e1006220 (2016)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4966937?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/7c98f36db5424abc93f80eefd82caaec

Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

Authors: Mary J Emond, Tin Louie, Julia Emerson, Jessica X Chong, Rasika A Mathias, Michael R Knowles, Mark J Rieder, Holly K Tabor, Debbie A Nickerson, Kathleen C Barnes, NHLBI GO Exome Sequencing Project, Lung Go, Ronald L Gibson, Michael J Bamshad

Source: PLoS Genetics, Vol 11, Iss 8, p e1005424 (2015)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4540584?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/6f938f018542446cb80e15466729da0c

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

Authors: Mary J Emond, Tin Louie, Julia Emerson, Jessica X Chong, Rasika A Mathias, Michael R Knowles, Mark J Rieder, Holly K Tabor, Debbie A Nickerson, Kathleen C Barnes, NHLBI GO Exome Sequencing Project, Lung Go, Ronald L Gibson, Michael J Bamshad

Source: PLoS Genetics, Vol 11, Iss 6, p e1005273 (2015)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4457883?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/226e711ac59b41c2b39359691ca58cd7

Sperm-associated antigen 6 (SPAG6) deficiency and defects in ciliogenesis and cilia function: polarity, density, and beat.

Authors: Maria E Teves, Patrick R Sears, Wei Li, Zhengang Zhang, Waixing Tang, Lauren van Reesema, Richard M Costanzo, C William Davis, Michael R Knowles, Jerome F Strauss, Zhibing Zhang

Source: PLoS ONE, Vol 9, Iss 10, p e107271 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4204823?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/fd8be5627c4f41c590d1c621a0538bcf