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High-Speed Videomicrosopy Analysis Presents Limitations in Diagnosis of Primary Ciliary Dyskinesia.

Shapiro AJ, Ferkol TW, Manion M, Leigh MW, Davis SD, Knowles MR.

Am J Respir Crit Care Med. 2019 Aug 21. doi: 10.1164/rccm.201907-1366LE. [Epub ahead of print] No abstract available.


Phase II Trial of De-Intensified Chemoradiotherapy for Human Papillomavirus-Associated Oropharyngeal Squamous Cell Carcinoma.

Chera BS, Amdur RJ, Green R, Shen C, Gupta G, Tan X, Knowles M, Fried D, Hayes N, Weiss J, Grilley-Olson J, Patel S, Zanation A, Hackman T, Zevallos J, Blumberg J, Patel S, Kasibhatla M, Sheets N, Weissler M, Yarbrough W, Mendenhall W.

J Clin Oncol. 2019 Aug 14:JCO1901007. doi: 10.1200/JCO.19.01007. [Epub ahead of print]


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

Hannah WB, DeBrosse S, Kinghorn B, Strausbaugh S, Aitken ML, Rosenfeld M, Wolf WE, Knowles MR, Zariwala MA.

Mol Genet Genomic Med. 2019 Sep;7(9):e911. doi: 10.1002/mgg3.911. Epub 2019 Aug 1.


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

Inaba A, Furuhata M, Morimoto K, Rahman M, Takahashi O, Hijikata M, Knowles MR, Keicho N.

BMC Pulm Med. 2019 Jul 25;19(1):135. doi: 10.1186/s12890-019-0897-4.


Visceral stent patency after fenestrated endovascular aneurysm repair using bare-metal stent extensions versus covered stents only.

Khoury MK, Timaran DE, Knowles M, Timaran CH.

J Vasc Surg. 2019 Jul 4. pii: S0741-5214(19)31111-5. doi: 10.1016/j.jvs.2019.03.054. [Epub ahead of print]


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

Morimoto K, Hijikata M, Zariwala MA, Nykamp K, Inaba A, Guo TC, Yamada H, Truty R, Sasaki Y, Ohta K, Kudoh S, Leigh MW, Knowles MR, Keicho N.

Mol Genet Genomic Med. 2019 Aug;7(8):e838. doi: 10.1002/mgg3.838. Epub 2019 Jul 4.


Patient-reported outcomes for dental health, shoulder-neck dysfunction, and overall quality of life after treatment with radiation for head and neck cancer.

Verma N, Tan X, Knowles M, Bernard S, Chera B.

Laryngoscope Investig Otolaryngol. 2019 May 2;4(3):300-306. doi: 10.1002/lio2.262. eCollection 2019 Jun.


Loss Of SNAP Is Associated With Food Insecurity And Poor Health In Working Families With Young Children.

Ettinger de Cuba S, Chilton M, Bovell-Ammon A, Knowles M, Coleman SM, Black MM, Cook JT, Cutts DB, Casey PH, Heeren TC, Frank DA.

Health Aff (Millwood). 2019 May;38(5):765-773. doi: 10.1377/hlthaff.2018.05265.


The Clinical Features of Bronchiectasis Associated with Alpha-1 Antitrypsin Deficiency, Common Variable Immunodeficiency and Primary Ciliary Dyskinesia--Results from the U.S. Bronchiectasis Research Registry.

Eden E, Choate R, Barker A, Addrizzo-Harris D, Aksamit TR, Daley CL, Daniels MLA, DiMango A, Fennelly K, Griffith DE, Johnson MM, Knowles MR, Metersky ML, Noone PG, O'Donnell AE, Olivier KN, Salathe MA, Schmid A, Thomashow B, Tino G, Turino GM, Winthrop KL.

Chronic Obstr Pulm Dis. 2019 Apr 9;6(2):145-153. doi: 10.15326/jcopdf.6.2.2018.0156. Epub 2019 Apr 9.


ETV5 links the FGFR3 and Hippo signalling pathways in bladder cancer.

di Martino E, Alder O, Hurst CD, Knowles MA.

Sci Rep. 2019 Apr 5;9(1):5740. doi: 10.1038/s41598-018-36456-3.


Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases.

Zysman-Colman ZN, Kaspy KR, Alizadehfar R, NyKamp KR, Zariwala MA, Knowles MR, Vinh DC, Shapiro AJ.

J Clin Immunol. 2019 Feb;39(2):216-224. doi: 10.1007/s10875-019-00613-8. Epub 2019 Mar 26.


Stenting of superior mesenteric and celiac arteries does not increase complication rates after fenestrated-branched endovascular aneurysm repair.

Motta F, Crowner JR, Kalbaugh CA, Knowles M, Pascarella L, McGinigle KL, Farber MA.

J Vasc Surg. 2019 Sep;70(3):691-701. doi: 10.1016/j.jvs.2018.11.043. Epub 2019 Mar 2.


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

Gong J, Wang F, Xiao B, Panjwani N, Lin F, Keenan K, Avolio J, Esmaeili M, Zhang L, He G, Soave D, Mastromatteo S, Baskurt Z, Kim S, O'Neal WK, Polineni D, Blackman SM, Corvol H, Cutting GR, Drumm M, Knowles MR, Rommens JM, Sun L, Strug LJ.

PLoS Genet. 2019 Feb 26;15(2):e1008007. doi: 10.1371/journal.pgen.1008007. eCollection 2019 Feb.


Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.

Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE.

Am J Hum Genet. 2019 Feb 7;104(2):229-245. doi: 10.1016/j.ajhg.2018.12.009. Epub 2019 Jan 18.


An Unusual Case of Bilateral Upper Extremity Ischemia Caused by Forearm Vessel Fibromuscular Dysplasia.

Antonescu I, Knowles M, Wirtz E, Pascarella L.

Ann Vasc Surg. 2019 Apr;56:353.e7-353.e11. doi: 10.1016/j.avsg.2018.08.110. Epub 2018 Nov 27.


Mutational landscape of non-muscle-invasive bladder cancer.

Hurst CD, Knowles MA.

Urol Oncol. 2018 Nov 13. pii: S1078-1439(18)30398-3. doi: 10.1016/j.urolonc.2018.10.015. [Epub ahead of print] Review.


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.

Polineni D, Piccorelli AV, Hannah WB, Dalrymple SN, Pace RG, Durie PR, Ling SC, Knowles MR, Stonebraker JR.

PLoS One. 2018 Oct 11;13(10):e0205257. doi: 10.1371/journal.pone.0205257. eCollection 2018.


The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort.

Sanders CD, Leigh MW, Chao KC, Weck KE, King I, Wolf WE, Campbell DJ, Knowles MR, Zariwala MA, Shapiro AJ.

Pediatr Pulmonol. 2018 Nov;53(11):1565-1573. doi: 10.1002/ppul.24159. Epub 2018 Sep 20.


A Phase II and Biomarker Study of Sorafenib Combined with Modified FOLFOX in Patients with Advanced Hepatocellular Carcinoma.

Goyal L, Zheng H, Abrams TA, Miksad R, Bullock AJ, Allen JN, Yurgelun MB, Clark JW, Kambadakone A, Muzikansky A, Knowles M, Galway A, Afflitto AJ, Dinicola CF, Regan E, Hato T, Mamessier E, Shigeta K, Jain RK, Duda DG, Zhu AX.

Clin Cancer Res. 2019 Jan 1;25(1):80-89. doi: 10.1158/1078-0432.CCR-18-0847. Epub 2018 Sep 6.


SnapShot: Bladder Cancer.

Hurst C, Rosenberg J, Knowles M.

Cancer Cell. 2018 Aug 13;34(2):350-350.e1. doi: 10.1016/j.ccell.2018.07.013.


Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.

Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW.

Am J Respir Crit Care Med. 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC.


FGFR3 mutation increases bladder tumourigenesis by suppressing acute inflammation.

Foth M, Ismail NFB, Kung JSC, Tomlinson D, Knowles MA, Eriksson P, Sjödahl G, Salmond JM, Sansom OJ, Iwata T.

J Pathol. 2018 Nov;246(3):331-343. doi: 10.1002/path.5143. Epub 2018 Sep 19.


Oncolytic Immunotherapy for Bladder Cancer Using Coxsackie A21 Virus.

Annels NE, Arif M, Simpson GR, Denyer M, Moller-Levet C, Mansfield D, Butler R, Shafren D, Au G, Knowles M, Harrington K, Vile R, Melcher A, Pandha H.

Mol Ther Oncolytics. 2018 Feb 14;9:1-12. doi: 10.1016/j.omto.2018.02.001. eCollection 2018 Jun 29.


AGTR2 absence or antagonism prevents cystic fibrosis pulmonary manifestations.

Darrah RJ, Jacono FJ, Joshi N, Mitchell AL, Sattar A, Campanaro CK, Litman P, Frey J, Nethery DE, Barbato ES, Hodges CA, Corvol H, Cutting GR, Knowles MR, Strug LJ, Drumm ML.

J Cyst Fibros. 2019 Jan;18(1):127-134. doi: 10.1016/j.jcf.2018.05.013. Epub 2018 Jun 22.


Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.

Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics.

Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST.


Phase 2 trial of neoadjuvant chemotherapy and transoral endoscopic surgery with risk-adapted adjuvant therapy for squamous cell carcinoma of the head and neck.

Weiss JM, Grilley-Olson JE, Deal AM, Zevallos JP, Chera BS, Paul J, Knowles MF, Usenko D, Weissler MC, Patel S, Hayes DN, Hackman T.

Cancer. 2018 Jul 15;124(14):2986-2992. doi: 10.1002/cncr.31526. Epub 2018 May 9.


Patient-derived mutations within the N-terminal domains of p85α impact PTEN or Rab5 binding and regulation.

Mellor P, Marshall JDS, Ruan X, Whitecross DE, Ross RL, Knowles MA, Moore SA, Anderson DH.

Sci Rep. 2018 May 8;8(1):7108. doi: 10.1038/s41598-018-25487-5.


Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease.

O'Neal WK, Knowles MR.

Annu Rev Genomics Hum Genet. 2018 Aug 31;19:201-222. doi: 10.1146/annurev-genom-083117-021329. Epub 2018 Apr 25. Review.


Improving imputation in disease-relevant regions: lessons from cystic fibrosis.

Panjwani N, Xiao B, Xu L, Gong J, Keenan K, Lin F, He G, Baskurt Z, Kim S, Zhang L, Esmaeili M, Blackman S, Scherer SW, Corvol H, Drumm M, Knowles M, Cutting G, Rommens JM, Sun L, Strug LJ.

NPJ Genom Med. 2018 Mar 20;3:8. doi: 10.1038/s41525-018-0047-6. eCollection 2018.


Successes, Challenges, and Considerations for Integrating Referral into Food Insecurity Screening in Pediatric Settings.

Knowles M, Khan S, Palakshappa D, Cahill R, Kruger E, Poserina BG, Koch B, Chilton M.

J Health Care Poor Underserved. 2018;29(1):181-191. doi: 10.1353/hpu.2018.0012.


The Prevalence and Significance of Staphylococcus aureus in Patients with Non-Cystic Fibrosis Bronchiectasis.

Metersky ML, Aksamit TR, Barker A, Choate R, Daley CL, Daniels LA, DiMango A, Eden E, Griffith D, Johnson M, Knowles M, O'Donnell AE, Olivier K, Salathe M, Thomashow B, Tino G, Turino G, Winthrop KL, Mannino D.

Ann Am Thorac Soc. 2018 Mar;15(3):365-370. doi: 10.1513/AnnalsATS.201706-426OC.


Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.

Blue E, Louie TL, Chong JX, Hebbring SJ, Barnes KC, Rafaels NM, Knowles MR, Gibson RL, Bamshad MJ, Emond MJ; U.S. National Heart, Lung, and Blood Institute “Grand Opportunity” Exome Sequencing Project (LungGO).

Ann Am Thorac Soc. 2018 Apr;15(4):440-448. doi: 10.1513/AnnalsATS.201706-451OC.


One plus one can be greater than two: Evaluating synergies of development programmes in Malawi.

Pace N, Daidone S, Davis B, Handa S, Knowles M, Pickmans R.

J Dev Stud. 2018;54(11):2023-2060. doi: 10.1080/00220388.2017.1380794. Epub 2017 Oct 8.


Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort.

Goutaki M, Halbeisen FS, Spycher BD, Maurer E, Belle F, Amirav I, Behan L, Boon M, Carr S, Casaulta C, Clement A, Crowley S, Dell S, Ferkol T, Haarman EG, Karadag B, Knowles M, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Phillipsen M, Sagel SD, Santamaria F, Schwerk N, Yiallouros P, Lucas JS, Kuehni CE; PCD Israeli Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases.

Eur Respir J. 2017 Dec 21;50(6). pii: 1701659. doi: 10.1183/13993003.01659-2017. Print 2017 Dec.


Unique signalling connectivity of FGFR3-TACC3 oncoprotein revealed by quantitative phosphoproteomics and differential network analysis.

Lombardi B, Ashford P, Moya-Garcia AA, Rust A, Crawford M, Williams SV, Knowles MA, Katan M, Orengo C, Godovac-Zimmermann J.

Oncotarget. 2017 Oct 25;8(61):102898-102911. doi: 10.18632/oncotarget.22048. eCollection 2017 Nov 28.


Identification of an Indazole-Based Pharmacophore for the Inhibition of FGFR Kinases Using Fragment-Led de Novo Design.

Turner LD, Summers AJ, Johnson LO, Knowles MA, Fishwick CWG.

ACS Med Chem Lett. 2017 Nov 11;8(12):1264-1268. doi: 10.1021/acsmedchemlett.7b00349. eCollection 2017 Dec 14.


Bladder cancer: Multi-omic profiling refines the molecular view.

Hurst CD, Knowles MA.

Nat Rev Clin Oncol. 2018 Apr;15(4):203-204. doi: 10.1038/nrclinonc.2017.195. Epub 2017 Dec 19. No abstract available.


Development of a sandwich ELISA with potential for selective quantification of human lactoferrin protein nitrated through disease or environmental exposure.

Alhalwani AY, Repine JE, Knowles MK, Huffman JA.

Anal Bioanal Chem. 2018 Feb;410(4):1389-1396. doi: 10.1007/s00216-017-0779-7. Epub 2017 Dec 6.


A Commercially Available Portion-Controlled Diet Program Is More Effective for Weight Loss than a Self-Directed Diet: Results from a Randomized Clinical Trial.

Cook CM, McCormick CN, Knowles M, Kaden VN.

Front Nutr. 2017 Nov 7;4:55. doi: 10.3389/fnut.2017.00055. eCollection 2017.


Genomic Subtypes of Non-invasive Bladder Cancer with Distinct Metabolic Profile and Female Gender Bias in KDM6A Mutation Frequency.

Hurst CD, Alder O, Platt FM, Droop A, Stead LF, Burns JE, Burghel GJ, Jain S, Klimczak LJ, Lindsay H, Roulson JA, Taylor CF, Thygesen H, Cameron AJ, Ridley AJ, Mott HR, Gordenin DA, Knowles MA.

Cancer Cell. 2017 Nov 13;32(5):701-715.e7. doi: 10.1016/j.ccell.2017.08.005.


TRPA1-FGFR2 binding event is a regulatory oncogenic driver modulated by miRNA-142-3p.

Berrout J, Kyriakopoulou E, Moparthi L, Hogea AS, Berrout L, Ivan C, Lorger M, Boyle J, Peers C, Muench S, Gomez JE, Hu X, Hurst C, Hall T, Umamaheswaran S, Wesley L, Gagea M, Shires M, Manfield I, Knowles MA, Davies S, Suhling K, Gonzalez YT, Carragher N, Macleod K, Abbott NJ, Calin GA, Gamper N, Zygmunt PM, Timsah Z.

Nat Commun. 2017 Oct 16;8(1):947. doi: 10.1038/s41467-017-00983-w.


Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.

Polineni D, Dang H, Gallins PJ, Jones LC, Pace RG, Stonebraker JR, Commander LA, Krenicky JE, Zhou YH, Corvol H, Cutting GR, Drumm ML, Strug LJ, Boyle MP, Durie PR, Chmiel JF, Zou F, Wright FA, O'Neal WK, Knowles MR.

Am J Respir Crit Care Med. 2018 Jan 1;197(1):79-93. doi: 10.1164/rccm.201701-0134OC.


Corrigendum: Novel variation at chr11p13 associated with cystic fibrosis lung disease severity.

Dang H, Gallins PJ, Pace RG, Guo XL, Stonebraker JR, Corvol H, Cutting GR, Drumm ML, Strug LJ, Knowles MR, O'Neal WK.

Hum Genome Var. 2017 May 25;4:17016. doi: 10.1038/hgv.2017.16. eCollection 2017.


Primary Ciliary Dyskinesia Diagnosis. Is Color Better Than Black and White?

Knowles MR, Leigh MW.

Am J Respir Crit Care Med. 2017 Jul 1;196(1):9-10. doi: 10.1164/rccm.201702-0426ED. No abstract available.


Affimer proteins are versatile and renewable affinity reagents.

Tiede C, Bedford R, Heseltine SJ, Smith G, Wijetunga I, Ross R, AlQallaf D, Roberts AP, Balls A, Curd A, Hughes RE, Martin H, Needham SR, Zanetti-Domingues LC, Sadigh Y, Peacock TP, Tang AA, Gibson N, Kyle H, Platt GW, Ingram N, Taylor T, Coletta LP, Manfield I, Knowles M, Bell S, Esteves F, Maqbool A, Prasad RK, Drinkhill M, Bon RS, Patel V, Goodchild SA, Martin-Fernandez M, Owens RJ, Nettleship JE, Webb ME, Harrison M, Lippiat JD, Ponnambalam S, Peckham M, Smith A, Ferrigno PK, Johnson M, McPherson MJ, Tomlinson DC.

Elife. 2017 Jun 27;6. pii: e24903. doi: 10.7554/eLife.24903.


The phylogeography of Myotis bat-associated rabies viruses across Canada.

Nadin-Davis S, Alnabelseya N, Knowles MK.

PLoS Negl Trop Dis. 2017 May 19;11(5):e0005541. doi: 10.1371/journal.pntd.0005541. eCollection 2017 May.


Frequency of untreated hypogammaglobulinemia in bronchiectasis.

Ruffner MA, Aksamit TR, Thomashow B, Choate R, DiMango A, Turino GM, O'Donnell AE, Johnson MM, Olivier KN, Fennelly K, Daley CL, Winthrop KL, Metersky ML, Salathe MA, Knowles MR, Daniels MLA, Noone PG, Tino G, Griffith DE, Sullivan KE.

Ann Allergy Asthma Immunol. 2017 Jul;119(1):83-85. doi: 10.1016/j.anai.2017.04.020. Epub 2017 May 20. No abstract available.


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

Pittman JE, Noah H, Calloway HE, Davis SD, Leigh MW, Drumm M, Sagel SD, Accurso FJ, Knowles MR, Sontag MK.

PLoS One. 2017 May 15;12(5):e0177215. doi: 10.1371/journal.pone.0177215. eCollection 2017.


The Intergenerational Circumstances of Household Food Insecurity and Adversity.

Chilton M, Knowles M, Bloom SL.

J Hunger Environ Nutr. 2017 Apr 3;12(2):269-297. doi: 10.1080/19320248.2016.1146195. Epub 2016 May 4.

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