CFTR c.3134C>A ;(p.S1045Y)

Variant ID: 7-117250718-C-A

NM_000492.3(CFTR):c.3134C>A;(p.S1045Y)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genistein-Opportunities Related to an Interesting Molecule of Natural Origin.

Molecules (Basel, Switzerland)
Garbiec, Ewa E; Cielecka-Piontek, Judyta J; Kowalówka, Magdalena M; Hołubiec, Magdalena M; Zalewski, Przemysław P
Publication Date: 2022-01-26

Variant appearance in text: CFTR: S1045Y
PubMed Link: 35164079
Variant Present in the following documents:
  • Main text
  • molecules-27-00815.pdf
View BVdb publication page



Genistein-Opportunities Related to an Interesting Molecule of Natural Origin.

Molecules (Basel, Switzerland)
Garbiec, Ewa E; Cielecka-Piontek, Judyta J; Kowalówka, Magdalena M; Hołubiec, Magdalena M; Zalewski, Przemysław P
Publication Date: 2022-01-26

Variant appearance in text: CFTR: S1045Y
PubMed Link: 35164079
Variant Present in the following documents:
  • Main text
  • molecules-27-00815.pdf
View BVdb publication page



Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.

Genes
Mezzi, Nessrine N; Messaoud, Olfa O; Mkaouar, Rahma R; Zitouna, Nadia N; Romdhane, Safa S; Abdessalem, Ghaith G; Charfeddine, Cherine C; Maazoul, Faouzi F; Ouerteni, Ines I; Hamdi, Yosr Y; Zaouak, Anissa A; Mrad, Ridha R; Abdelhak, Sonia S; Romdhane, Lilia L
Publication Date: 2021-11-19

Variant appearance in text: CFTR: S1045Y
PubMed Link: 34828426
Variant Present in the following documents:
  • Main text
  • genes-12-01820.pdf
View BVdb publication page



A review of clinical pharmacogenetics Studies in African populations.

Personalized Medicine
Radouani, Fouzia F; Zass, Lyndon L; Hamdi, Yosr Y; Rocha, Jorge da JD; Sallam, Reem R; Abdelhak, Sonia S; Ahmed, Samah S; Azzouzi, Maryame M; Benamri, Ichrak I; Benkahla, Alia A; Bouhaouala-Zahar, Balkiss B; Chaouch, Melek M; Jmel, Haifa H; Kefi, Rym R; Ksouri, Ayoub A; Kumuthini, Judit J; Masilela, Phumlani P; Masimirembwa, Collen C; Othman, Houcemeddine H; Panji, Sumir S; Romdhane, Lilia L; Samtal, Chaimae C; Sibira, Rania R; Ghedira, Kais K; Fadlelmola, Faisal F; Kassim, Samar Kamal SK; Mulder, Nicola N
Publication Date: 2020-03

Variant appearance in text: CFTR: S1045Y
PubMed Link: 32125935
Variant Present in the following documents:
  • nihms-1694746.pdf
View BVdb publication page



Consuming Genistein Improves Survival Rates in the Absence of Laxative in ΔF508-CF Female Mice.

Nutrients
Lord, Ryan R; Fairbourn, Nathan N; Mylavarapu, Charisma C; Dbeis, Ammer A; Bowman, Taylor T; Chandrashekar, Archana A; Banayat, Tatum T; Hodges, Craig A CA; Al-Nakkash, Layla L
Publication Date: 2018-10-03

Variant appearance in text: CFTR: S1045Y
PubMed Link: 30282922
Variant Present in the following documents:
  • Main text
  • nutrients-10-01418.pdf
View BVdb publication page



Personalized medicine in CF: from modulator development to therapy for cystic fibrosis patients with rare CFTR mutations.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Harutyunyan, Misak M; Huang, Yunjie Y; Mun, Kyu-Shik KS; Yang, Fanmuyi F; Arora, Kavisha K; Naren, Anjaparavanda P AP
Publication Date: 2018-04-01

Variant appearance in text: CFTR: S1045Y
PubMed Link: 29351449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Personalized medicine in cystic fibrosis: genistein supplementation as a treatment option for patients with a rare S1045Y-CFTR mutation.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Arora, Kavisha K; Yarlagadda, Sunitha S; Zhang, Weiqiang W; Moon, ChangSuk C; Bouquet, Erin E; Srinivasan, Saumini S; Li, Chunying C; Stokes, Dennis C DC; Naren, Anjaparavanda P AP
Publication Date: 2016-08-01

Variant appearance in text: CFTR: 3134C>A; Ser1045Tyr
PubMed Link: 27261451
Variant Present in the following documents:
  • Main text
View BVdb publication page