These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 35690578)

  • 1. Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis.
    Cuyx S; Ramalho SS; Callebaut I; Cuppens H; Kmit A; Arnauts K; Ferrante M; Verfaillie C; Ensinck M; Carlon MS; Boon M; Proesmans M; Dupont L; De Boeck K; Farinha CM; Vermeulen F; Ramalho AS
    J Cyst Fibros; 2022 Jul; 21(4):644-651. PubMed ID: 35690578
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.
    Kälin N; Dörk T; Tümmler B
    Hum Mutat; 1992; 1(3):204-10. PubMed ID: 1284535
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Targeted locus amplification reveals heterogeneity between and within CFTR genotypes and association with CFTR function in patient-derived intestinal organoids.
    Lefferts JW; Boersma V; Nieuwenhuijze NDA; Suen SWF; Hajo K; Collantes NS; Vermeulen C; Groeneweg T; Hagemeijer MC; de Jonge HR; van der Ent CK; Splinter E; Beekman JM
    J Cyst Fibros; 2023 May; 22(3):538-547. PubMed ID: 37100706
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Targeting G542X CFTR nonsense alleles with ELX-02 restores CFTR function in human-derived intestinal organoids.
    Crawford DK; Mullenders J; Pott J; Boj SF; Landskroner-Eiger S; Goddeeris MM
    J Cyst Fibros; 2021 May; 20(3):436-442. PubMed ID: 33558100
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant.
    Kondratyeva E; Bukharova T; Efremova A; Melyanovskaya Y; Bulatenko N; Davydenko K; Filatova A; Skoblov M; Krasovsky S; Petrova N; Polyakov A; Adyan T; Amelina E; Shadrina V; Zhekaite E; Zodbinova A; Chernyak A; Zinchenko R; Kutsev S; Goldshtein D
    Genes (Basel); 2021 May; 12(6):. PubMed ID: 34071719
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Potentiator synergy in rectal organoids carrying S1251N, G551D, or F508del CFTR mutations.
    Dekkers JF; Van Mourik P; Vonk AM; Kruisselbrink E; Berkers G; de Winter-de Groot KM; Janssens HM; Bronsveld I; van der Ent CK; de Jonge HR; Beekman JM
    J Cyst Fibros; 2016 Sep; 15(5):568-78. PubMed ID: 27160424
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion.
    Stanke F; Hedtfeld S; Becker T; Tümmler B
    BMC Med Genet; 2011 May; 12():62. PubMed ID: 21548936
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype and phenotype in cystic fibrosis.
    Zielenski J
    Respiration; 2000; 67(2):117-33. PubMed ID: 10773783
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
    Terlizzi V; Castaldo G; Salvatore D; Lucarelli M; Raia V; Angioni A; Carnovale V; Cirilli N; Casciaro R; Colombo C; Di Lullo AM; Elce A; Iacotucci P; Comegna M; Scorza M; Lucidi V; Perfetti A; Cimino R; Quattrucci S; Seia M; Sofia VM; Zarrilli F; Amato F
    J Med Genet; 2017 Apr; 54(4):224-235. PubMed ID: 27738188
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.
    Lucarelli M; Narzi L; Pierandrei S; Bruno SM; Stamato A; d'Avanzo M; Strom R; Quattrucci S
    Genet Med; 2010 Sep; 12(9):548-55. PubMed ID: 20706124
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24.
    Kleinfelder K; Somenza E; Farinazzo A; Conti J; Lotti V; Latorre RV; Rodella L; Massella A; Tomba F; Bertini M; Sorio C; Melotti P
    Int J Mol Sci; 2023 Mar; 24(6):. PubMed ID: 36982273
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel natural product compound enhances cAMP-regulated chloride conductance of cells expressing CFTR[delta]F508.
    deCarvalho AC; Ndi CP; Tsopmo A; Tane P; Ayafor J; Connolly JD; Teem JL
    Mol Med; 2002 Feb; 8(2):75-87. PubMed ID: 12080183
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Forskolin-induced swelling of intestinal organoids correlates with disease severity in adults with cystic fibrosis and homozygous F508del mutations.
    de Winter-de Groot KM; Berkers G; Marck-van der Wilt REP; van der Meer R; Vonk A; Dekkers JF; Geerdink M; Michel S; Kruisselbrink E; Vries R; Clevers H; Vleggaar FP; Elias SG; Heijerman HGM; van der Ent CK; Beekman JM
    J Cyst Fibros; 2020 Jul; 19(4):614-619. PubMed ID: 31735562
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.
    Raraigh KS; Aksit MA; Hetrick K; Pace RG; Ling H; O'Neal W; Blue E; Zhou YH; Bamshad MJ; Blackman SM; Gibson RL; Knowles MR; Cutting GR
    J Cyst Fibros; 2022 May; 21(3):463-470. PubMed ID: 34782259
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy.
    Kondratyeva E; Efremova A; Melyanovskaya Y; Voronkova A; Polyakov A; Bulatenko N; Adyan T; Sherman V; Kovalskaia V; Petrova N; Starinova M; Bukharova T; Kutsev S; Goldshtein D
    Int J Mol Sci; 2022 Sep; 23(18):. PubMed ID: 36142302
    [TBL] [Abstract][Full Text] [Related]  

  • 16. FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes.
    de Poel E; Spelier S; Hagemeijer MC; van Mourik P; Suen SWF; Vonk AM; Brunsveld JE; Ithakisiou GN; Kruisselbrink E; Oppelaar H; Berkers G; de Winter de Groot KM; Heida-Michel S; Jans SR; van Panhuis H; Bakker M; van der Meer R; Roukema J; Dompeling E; Weersink EJM; Koppelman GH; Blaazer AR; Muijlwijk-Koezen JE; van der Ent CK; Beekman JM
    J Cyst Fibros; 2023 May; 22(3):548-559. PubMed ID: 37147251
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The role of the F508C mutation in congenital bilateral absence of the vas deferens.
    Havasi V; Keiles S; Hambuch T; Sorscher EJ; Kammesheidt A
    Genet Med; 2008 Dec; 10(12):910-4. PubMed ID: 19092444
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.
    Schippa S; Iebba V; Santangelo F; Gagliardi A; De Biase RV; Stamato A; Bertasi S; Lucarelli M; Conte MP; Quattrucci S
    PLoS One; 2013; 8(4):e61176. PubMed ID: 23613805
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis.
    Cuyx S; Ramalho AS; Corthout N; Fieuws S; Fürstová E; Arnauts K; Ferrante M; Verfaillie C; Munck S; Boon M; Proesmans M; Dupont L; De Boeck K; Vermeulen F;
    Thorax; 2021 Nov; 76(11):1146-1149. PubMed ID: 33859053
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Forskolin induced swelling (FIS) assay in intestinal organoids to guide eligibility for compassionate use treatment in a CF patient with a rare genotype.
    Aalbers BL; Brunsveld JE; van der Ent CK; van den Eijnden JC; Beekman JM; Heijerman HGM
    J Cyst Fibros; 2022 Mar; 21(2):254-257. PubMed ID: 35110005
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.