Human Mesenchymal Stem Cell (hMSC) Donor Potency Selection for the "First in Cystic Fibrosis" Phase I Clinical Trial (CEASE-CF).
Pharmaceuticals (Basel, Switzerland)
Bonfield, Tracey L TL; Sutton, Morgan T MT; Fletcher, David R DR; Reese-Koc, Jane J; Roesch, Erica A EA; Lazarus, Hillard M HM; Chmiel, James F JF; Caplan, Arnold I AI
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
International Journal Of Molecular Sciences
Makarova, Maria M; Nemtsova, Marina M; Danishevich, Anastasiia A; Chernevskiy, Denis D; Belenikin, Maxim M; Krinitsina, Anastasiia A; Baranova, Elena E; Sagaydak, Olesya O; Vorontsova, Maria M; Khatkov, Igor I; Zhukova, Lyudmila L; Bodunova, Natalia N; Nikolaev, Sergey S; Byakhova, Mariya M; Semenova, Anna A; Galkin, Vsevolod V; Gadzhieva, Saida S
Publication Date: 2023-04-27
Variant appearance in text: CFTR: 350G>A; Arg117His; rs78655421
Magnetic resonance imaging detects onset and association with lung disease severity of bronchial artery dilatation in cystic fibrosis.
Erj Open Research
Leutz-Schmidt, Patricia P; Optazaite, Daiva-Elzbieta DE; Sommerburg, Olaf O; Eichinger, Monika M; Wege, Sabine S; Steinke, Eva E; Graeber, Simon Y SY; Puderbach, Michael U MU; Schenk, Jens-Peter JP; Alrajab, Abdulsattar A; Triphan, Simon M F SMF; Kauczor, Hans-Ulrich HU; Stahl, Mirjam M; Mall, Marcus A MA; Wielpütz, Mark O MO
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: CFTR: 350G>A; Arg117His
Diagnostic agreement among experts assessing adults presenting with possible cystic fibrosis: need for improvement and implications for patient care.
Erj Open Research
Franciosi, Alessandro N AN; Tanzler, April A; Goodwin, Jodi J; Wilcox, Pearce G PG; Solomon, George M GM; Faro, Albert A; McElvaney, Noel G NG; Downey, Damian G DG; Quon, Bradley S BS
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
Journal Of Personalized Medicine
Archibald, Alison D AD; McClaren, Belinda J BJ; Caruana, Jade J; Tutty, Erin E; King, Emily A EA; Halliday, Jane L JL; Best, Stephanie S; Kanga-Parabia, Anaita A; Bennetts, Bruce H BH; Cliffe, Corrina C CC; Madelli, Evanthia O EO; Ho, Gladys G; Liebelt, Jan J; Long, Janet C JC; Braithwaite, Jeffrey J; Kennedy, Jillian J; Massie, John J; Emery, Jon D JD; McGaughran, Julie J; Marum, Justine E JE; Boggs, Kirsten K; Barlow-Stewart, Kristine K; Burnett, Leslie L; Dive, Lisa L; Freeman, Lucinda L; Davis, Mark R MR; Downes, Martin J MJ; Wallis, Mathew M; Ferrie, Monica M MM; Pachter, Nicholas N; Scuffham, Paul A PA; Casella, Rachael R; Allcock, Richard J N RJN; Ong, Royston R; Edwards, Samantha S; Righetti, Sarah S; Lunke, Sebastian S; Lewis, Sharon S; Walker, Susan P SP; Boughtwood, Tiffany F TF; Hardy, Tristan T; Newson, Ainsley J AJ; Kirk, Edwin P EP; Laing, Nigel G NG; Delatycki, Martin B MB; The Mackenzie's Mission Study Team,
Publication Date: 2022-10-28
Variant appearance in text: CFTR: 350G>A; Arg117His
High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification.
Hgg Advances
Mastromatteo, Scott S; Chen, Angela A; Gong, Jiafen J; Lin, Fan F; Thiruvahindrapuram, Bhooma B; Sung, Wilson W L WWL; Whitney, Joe J; Wang, Zhuozhi Z; Patel, Rohan V RV; Keenan, Katherine K; Halevy, Anat A; Panjwani, Naim N; Avolio, Julie J; Wang, Cheng C; Côté-Maurais, Guillaume G; Bégin, Stéphanie S; Adam, Damien D; Brochiero, Emmanuelle E; Bjornson, Candice C; Chilvers, Mark M; Price, April A; Parkins, Michael M; van Wylick, Richard R; Mateos-Corral, Dimas D; Hughes, Daniel D; Smith, Mary Jane MJ; Morrison, Nancy N; Tullis, Elizabeth E; Stephenson, Anne L AL; Wilcox, Pearce P; Quon, Bradley S BS; Leung, Winnie M WM; Solomon, Melinda M; Sun, Lei L; Ratjen, Felix F; Strug, Lisa J LJ
Rate of Lung Function Decline in People with Cystic Fibrosis Having a Residual Function Gene Mutation.
Pulmonary Therapy
Sawicki, Gregory S GS; Konstan, Michael W MW; McKone, Edward F EF; Moss, Richard B RB; Lubarsky, Barry B; Suthoff, Ellison E; Millar, Stefanie J SJ; Pasta, David J DJ; Mayer-Hamblett, Nicole N; Goss, Christopher H CH; Morgan, Wayne J WJ; Duncan, Margaret E ME; Yang, Yoojung Y
A small-molecule inhibitor and degrader of the RNF5 ubiquitin ligase.
Molecular Biology Of The Cell
Ruan, Jingjing J; Liang, Dongdong D; Yan, Wenjing W; Zhong, Yongwang Y; Talley, Daniel C DC; Rai, Ganesha G; Tao, Dingyin D; LeClair, Christopher A CA; Simeonov, Anton A; Zhang, Yinghua Y; Chen, Feihu F; Quinney, Nancy L NL; Boyles, Susan E SE; Cholon, Deborah M DM; Gentzsch, Martina M; Henderson, Mark J MJ; Xue, Fengtian F; Fang, Shengyun S
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
American Journal Of Human Genetics
Kingsmore, Stephen F SF; Smith, Laurie D LD; Kunard, Chris M CM; Bainbridge, Matthew M; Batalov, Sergey S; Benson, Wendy W; Blincow, Eric E; Caylor, Sara S; Chambers, Christina C; Del Angel, Guillermo G; Dimmock, David P DP; Ding, Yan Y; Ellsworth, Katarzyna K; Feigenbaum, Annette A; Frise, Erwin E; Green, Robert C RC; Guidugli, Lucia L; Hall, Kevin P KP; Hansen, Christian C; Hobbs, Charlotte A CA; Kahn, Scott D SD; Kiel, Mark M; Van Der Kraan, Lucita L; Krilow, Chad C; Kwon, Yong H YH; Madhavrao, Lakshminarasimha L; Le, Jennie J; Lefebvre, Sebastien S; Mardach, Rebecca R; Mowrey, William R WR; Oh, Danny D; Owen, Mallory J MJ; Powley, George G; Scharer, Gunter G; Shelnutt, Seth S; Tokita, Mari M; Mehtalia, Shyamal S SS; Oriol, Albert A; Papadopoulos, Stavros S; Perry, James J; Rosales, Edwin E; Sanford, Erica E; Schwartz, Steve S; Tran, Duke D; Reese, Martin G MG; Wright, Meredith M; Veeraraghavan, Narayanan N; Wigby, Kristen K; Willis, Mary J MJ; Wolen, Aaron R AR; Defay, Thomas T
Publication Date: 2022-09-01
Variant appearance in text: CFTR: 350G>A; Arg117His
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.
CFTR gene variants, air pollution, and childhood asthma in a California Medicaid population.
Pediatric Pulmonology
Thilakaratne, Ruwan R; Graham, Steve S; Moua, John J; Jones, Caitlin G CG; Collins, Caroline C; Mann, Jennifer J; Sciortino, Stanley S; Wong, Jacklyn J; Kharrazi, Martin M
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Journal Of Personalized Medicine
Sotnikova, Evgeniia A EA; Kiseleva, Anna V AV; Kutsenko, Vladimir A VA; Zharikova, Anastasia A AA; Ramensky, Vasily E VE; Divashuk, Mikhail G MG; Vyatkin, Yuri V YV; Klimushina, Marina V MV; Ershova, Alexandra I AI; Revazyan, Karina Z KZ; Skirko, Olga P OP; Zaicenoka, Marija M; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Kopylova, Oksana V OV; Glechan, Anush M AM; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2022-03-04
Variant appearance in text: CFTR: R117H; rs78655421
Intestinal Inflammation and Alterations in the Gut Microbiota in Cystic Fibrosis: A Review of the Current Evidence, Pathophysiology and Future Directions.
Journal Of Clinical Medicine
Tam, Rachel Y RY; van Dorst, Josie M JM; McKay, Isabelle I; Coffey, Michael M; Ooi, Chee Y CY
Intestinal Inflammation and Alterations in the Gut Microbiota in Cystic Fibrosis: A Review of the Current Evidence, Pathophysiology and Future Directions.
Journal Of Clinical Medicine
Tam, Rachel Y RY; van Dorst, Josie M JM; McKay, Isabelle I; Coffey, Michael M; Ooi, Chee Y CY
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Nature Communications
Arnadottir, Gudny A GA; Oddsson, Asmundur A; Jensson, Brynjar O BO; Gisladottir, Svanborg S; Simon, Mariella T MT; Arnthorsson, Asgeir O AO; Katrinardottir, Hildigunnur H; Fridriksdottir, Run R; Ivarsdottir, Erna V EV; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Barrick, Rebekah R; Saemundsdottir, Jona J; le Roux, Louise L; Oskarsson, Gudjon R GR; Asmundsson, Jurate J; Steffensen, Thora T; Gudmundsson, Kjartan R KR; Ludvigsson, Petur P; Jonsson, Jon J JJ; Masson, Gisli G; Jonsdottir, Ingileif I; Holm, Hilma H; Jonasson, Jon G JG; Magnusson, Olafur Th OT; Thorarensen, Olafur O; Abdenur, Jose J; Norddahl, Gudmundur L GL; Gudbjartsson, Daniel F DF; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Stefansson, Kari K