Publications:

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Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)

Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2022-12-20

Variant appearance in text: CFTR: W1282R

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.

Diagnostics (Basel, Switzerland)

Auzenbaha, Madara M; Aleksejeva, Elina E; Taurina, Gita G; Kornejeva, Liene L; Kempa, Inga I; Svabe, Vija V; Gailite, Linda L

Publication Date: 2022-11-21

Variant appearance in text: CFTR: 3844T>C; W1282R

PubMed Link: 36428953

Variant Present in the following documents:

• Main text
• diagnostics-12-02893.pdf

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Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].

Current Issues In Molecular Biology

Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S

Publication Date: 2022-10-21

Variant appearance in text: CFTR: 3844T>C; W1282R

PubMed Link: 36286063

Variant Present in the following documents:

• Main text
• cimb-44-00349.pdf

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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

Publication Date: 2022

Variant appearance in text: CFTR: W1282R

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

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Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.

Erj Open Research

Zampoli, Marco M; Verstraete, Janine J; Frauendorf, Marlize M; Kassanjee, Reshma R; Workman, Lesley L; Morrow, Brenda M BM; Zar, Heather J HJ

Publication Date: 2021-07

Variant appearance in text: CFTR: Trp1282Arg

PubMed Link: 34350279

Variant Present in the following documents:

• 00856-2020.supplement.pdf

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Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.

Frontiers In Genetics

Petrova, Nika N; Balinova, Natalia N; Marakhonov, Andrey A; Vasilyeva, Tatyana T; Kashirskaya, Nataliya N; Galkina, Varvara V; Ginter, Evgeniy E; Kutsev, Sergey S; Zinchenko, Rena R

Publication Date: 2021

Variant appearance in text: CFTR: W1282R

PubMed Link: 34220950

Variant Present in the following documents:

• Main text
• fgene-12-678374.pdf

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Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.

Genes

Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Krasovskiy, Stanislav A SA; Amelina, Elena L EL; Kondratyeva, Elena I EI; Marakhonov, Andrey V AV; Vasilyeva, Tatyana A TA; Voronkova, Anna Y AY; Sherman, Victoria D VD; Ginter, Evgeny K EK; Kutsev, Sergey I SI; Zinchenko, Rena A RA

Publication Date: 2020-09-27

Variant appearance in text: CFTR: 3844T>C; W1282R

PubMed Link: 32992607

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine

Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2020-09-22

Variant appearance in text: CFTR: 3844T>C; W1282R; rs397508616

PubMed Link: 32971794

Variant Present in the following documents:

• jpm-10-00140-s001.pdf

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Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes

Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA

Publication Date: 2020-05-15

Variant appearance in text: CFTR: 3844T>C

PubMed Link: 32429104

Variant Present in the following documents:

• Main text
• genes-11-00554.pdf

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Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.

Scientific Reports

Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Rivera, Amber A AA; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Haggie, Peter M PM; Verkman, Alan S AS

Publication Date: 2019-11-27

Variant appearance in text: CFTR: W1282R

PubMed Link: 31776420

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54158.pdf

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Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

Bmc Medical Genetics

Petrova, N V NV; Kashirskaya, N Y NY; Saydaeva, D K DK; Polyakov, A V AV; Adyan, T A TA; Simonova, O I OI; Gorinova, Y V YV; Kondratyeva, E I EI; Sherman, V D VD; Novoselova, O G OG; Vasilyeva, T A TA; Marakhonov, A V AV; Macek, M M; Ginter, E K EK; Zinchenko, R A RA

Publication Date: 2019-03-21

Variant appearance in text: CFTR: 3844T>C; W1282R

PubMed Link: 30898088

Variant Present in the following documents:

• Main text
• 12881_2019_Article_785.pdf

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Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

Bmc Medical Genomics

Ivanov, Maxim M; Matsvay, Alina A; Glazova, Olga O; Krasovskiy, Stanislav S; Usacheva, Mariya M; Amelina, Elena E; Chernyak, Aleksandr A; Ivanov, Mikhail M; Musienko, Sergey S; Prodanov, Timofey T; Kovalenko, Sergey S; Baranova, Ancha A; Khafizov, Kamil K

Publication Date: 2018-02-13

Variant appearance in text: CFTR: W1282R

PubMed Link: 29504914

Variant Present in the following documents:

• Main text
• 12920_2018_Article_328.pdf

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Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Erj Open Research

Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A

Publication Date: 2018-01

Variant appearance in text: CFTR: Trp1282Arg

PubMed Link: 29497617

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFTR: W1282R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P

Publication Date: 2005-08

Variant appearance in text: CFTR: W1282R

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

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Anti-inflammatory and immunomodulating effects of clarithromycin in patients with cystic fibrosis lung disease.

Mediators Of Inflammation

Pukhalsky, Alexander L AL; Shmarina, Galina V GV; Kapranov, Nikolai I NI; Kokarovtseva, Svetlana N SN; Pukhalskaya, Daria D; Kashirskaja, Natalia J NJ

Publication Date: 2004-04

Variant appearance in text: CFTR: W1282R

PubMed Link: 15203552

Variant Present in the following documents:

• 15203552.pdf

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