Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.
Translational Research in Cystic Fibrosis: From Bench to Beside.
Frontiers In Pediatrics
Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA
CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.
Jci Insight
Raraigh, Karen S KS; Paul, Kathleen C KC; Goralski, Jennifer L JL; Worthington, Erin N EN; Faino, Anna V AV; Sciortino, Stanley S; Wang, Yiting Y; Aksit, Melis A MA; Ling, Hua H; Osorio, Derek L DL; Onchiri, Frankline M FM; Patel, Shivani U SU; Merlo, Christian A CA; Montemayor, Kristina K; Gibson, Ronald L RL; West, Natalie E NE; Thakerar, Amita A; Bridges, Robert J RJ; Sheppard, David N DN; Sharma, Neeraj N; Cutting, Garry R GR
Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.
Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.
Antibiotics (Basel, Switzerland)
Girón Moreno, Rosa María RM; García-Clemente, Marta M; Diab-Cáceres, Layla L; Martínez-Vergara, Adrián A; Martínez-García, Miguel Ángel MÁ; Gómez-Punter, Rosa Mar RM
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Frontiers In Oncology
Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R
Publication Date: 2021
Variant appearance in text: CFTR: 1523T>G; Phe508Cys
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Genes
Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A
An Overview of the Application of Systems Biology in an Understanding of Chronic Rhinosinusitis (CRS) Development.
Journal Of Personalized Medicine
Michalik, Michał M; Samet, Alfred A; Dmowska-Koroblewska, Agnieszka A; Podbielska-Kubera, Adrianna A; Waszczuk-Jankowska, Małgorzata M; Struck-Lewicka, Wiktoria W; Markuszewski, Michał J MJ
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Prevalence of abnormal glucose metabolism in pediatric acute, acute recurrent and chronic pancreatitis.
Plos One
Abu-El-Haija, Maisam M; Hornung, Lindsey L; Denson, Lee A LA; Husami, Ammar A; Lin, Tom K TK; Matlock, Kristal K; Nathan, Jaimie D JD; Palermo, Joseph J JJ; Thompson, Tyler T; Valencia, C Alexander CA; Wang, Xinjian X; Woo, Jessica J; Zhang, Keijan K; Elder, Deborah D
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
American Journal Of Human Genetics
Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR
Publication Date: 2018-06-07
Variant appearance in text: CFTR: 1523T>G; Phe508Cys
Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.
Pancreas
Palermo, Joseph J JJ; Lin, Tom K TK; Hornung, Lindsey L; Valencia, C Alexander CA; Mathur, Abhinav A; Jackson, Kimberly K; Fei, Lin L; Abu-El-Haija, Maisam M
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Richards, Sue S; Aziz, Nazneen N; Bale, Sherri S; Bick, David D; Das, Soma S; Gastier-Foster, Julie J; Grody, Wayne W WW; Hegde, Madhuri M; Lyon, Elaine E; Spector, Elaine E; Voelkerding, Karl K; Rehm, Heidi L HL; ,
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.
Journal Of Medical Case Reports
Dell'Edera, Domenico D; Benedetto, Michele M; Gadaleta, Gemma G; Carone, Domenico D; Salvatore, Donatello D; Angione, Antonella A; Gallo, Massimiliano M; Milo, Michele M; Pisaturo, Maria Laura ML; Di Pierro, Giuseppe G; Mazzone, Eleonora E; Epifania, Annunziata Anna AA
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.
Plos Genetics
LaRusch, Jessica J; Jung, Jinsei J; General, Ignacio J IJ; Lewis, Michele D MD; Park, Hyun Woo HW; Brand, Randall E RE; Gelrud, Andres A; Anderson, Michelle A MA; Banks, Peter A PA; Conwell, Darwin D; Lawrence, Christopher C; Romagnuolo, Joseph J; Baillie, John J; Alkaade, Samer S; Cote, Gregory G; Gardner, Timothy B TB; Amann, Stephen T ST; Slivka, Adam A; Sandhu, Bimaljit B; Aloe, Amy A; Kienholz, Michelle L ML; Yadav, Dhiraj D; Barmada, M Michael MM; Bahar, Ivet I; Lee, Min Goo MG; Whitcomb, David C DC; ,
Neonates with cystic fibrosis have a reduced nasal liquid pH; a small pilot study.
Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Abou Alaiwa, Mahmoud H MH; Beer, Alison M AM; Pezzulo, Alejandro A AA; Launspach, Janice L JL; Horan, Rebecca A RA; Stoltz, David A DA; Starner, Timothy D TD; Welsh, Michael J MJ; Zabner, Joseph J
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS
Newborn screening for cystic fibrosis in Alberta: Two years of experience.
Paediatrics & Child Health
Lilley, Margaret M; Christian, Susan S; Hume, Stacey S; Scott, Patrick P; Montgomery, Mark M; Semple, Lisa L; Zuberbuhler, Peter P; Tabak, Joan J; Bamforth, Fiona F; Somerville, Martin J MJ
Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.
Gastroenterology
Schneider, Alexander A; Larusch, Jessica J; Sun, Xiumei X; Aloe, Amy A; Lamb, Janette J; Hawes, Robert R; Cotton, Peter P; Brand, Randall E RE; Anderson, Michelle A MA; Money, Mary E ME; Banks, Peter A PA; Lewis, Michele D MD; Baillie, John J; Sherman, Stuart S; Disario, James J; Burton, Frank R FR; Gardner, Timothy B TB; Amann, Stephen T ST; Gelrud, Andres A; George, Ryan R; Rockacy, Matthew J MJ; Kassabian, Sirvart S; Martinson, Jeremy J; Slivka, Adam A; Yadav, Dhiraj D; Oruc, Nevin N; Barmada, M Michael MM; Frizzell, Raymond R; Whitcomb, David C DC
The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.
The Journal Of Biological Chemistry
Thibodeau, Patrick H PH; Richardson, John M JM; Wang, Wei W; Millen, Linda L; Watson, Jarod J; Mendoza, Juan L JL; Du, Kai K; Fischman, Sharon S; Senderowitz, Hanoch H; Lukacs, Gergely L GL; Kirk, Kevin K; Thomas, Philip J PJ
The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.
The Journal Of Molecular Diagnostics : Jmd
Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A
Development of genomic reference materials for cystic fibrosis genetic testing.
The Journal Of Molecular Diagnostics : Jmd
Pratt, Victoria M VM; Caggana, Michele M; Bridges, Christina C; Buller, Arlene M AM; DiAntonio, Lisa L; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Muralidharan, Kasinathan K; Rohlfs, Elizabeth M EM; Tarleton, Jack J; Toji, Lorraine L; Barker, Shannon D SD; Kalman, Lisa V LV
Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.
The Journal Of Molecular Diagnostics : Jmd
Schwartz, Karen M KM; Pike-Buchanan, Lisa L LL; Muralidharan, Kasinathan K; Redman, Joy B JB; Wilson, Jean Amos JA; Jarvis, Michael M; Cura, M Grace MG; Pratt, Victoria M VM