Publications:

---

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

Publication Date: 2020

Variant appearance in text: rs55928397

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

---

Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Cellular & Molecular Biology Letters

Bartoszewski, Rafal R; Króliczewski, Jaroslaw J; Piotrowski, Arkadiusz A; Jasiecka, Anna Janaszak AJ; Bartoszewska, Sylwia S; Vecchio-Pagan, Briana B; Fu, Lianwu L; Sobolewska, Aleksandra A; Matalon, Sadis S; Cutting, Garry R GR; Rowe, Steven M SM; Collawn, James F JF

Publication Date: 2016

Variant appearance in text: rs55928397

PubMed Link: 28536625

Variant Present in the following documents:

• 11658_2016_25_MOESM6_ESM.xlsx, sheet 1
• 11658_2016_25_MOESM3_ESM.xlsx, sheet 1
• 11658_2016_25_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.

Plos Genetics

Soukarieh, Omar O; Gaildrat, Pascaline P; Hamieh, Mohamad M; Drouet, Aurélie A; Baert-Desurmont, Stéphanie S; Frébourg, Thierry T; Tosi, Mario M; Martins, Alexandra A

Publication Date: 2016-01

Variant appearance in text: CFTR: 1731C>T

PubMed Link: 26761715

Variant Present in the following documents:

View BVdb publication page

---

Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Scott, Alexandra A; Petrykowska, Hanna M HM; Hefferon, Timothy T; Gotea, Valer V; Elnitski, Laura L

Publication Date: 2012-12

Variant appearance in text: CFTR: 1731C>T

PubMed Link: 22591852

Variant Present in the following documents:

• Main text

View BVdb publication page

---

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.

Human Molecular Genetics

Fernandez Alanis, Eugenio E; Pinotti, Mirko M; Dal Mas, Andrea A; Balestra, Dario D; Cavallari, Nicola N; Rogalska, Malgorzata E ME; Bernardi, Francesco F; Pagani, Franco F

Publication Date: 2012-06-01

Variant appearance in text: CFTR: Y577Y

PubMed Link: 22362925

Variant Present in the following documents:

• Main text
• dds045.pdf

View BVdb publication page

---

Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

The Journal Of Molecular Diagnostics : Jmd

Audrezet, Marie-Pierre MP; Dabricot, Aurélia A; Le Marechal, Cédric C; Ferec, Claude C

Publication Date: 2008-09

Variant appearance in text: CFTR: Y577Y

PubMed Link: 18687795

Variant Present in the following documents:

• Main text

View BVdb publication page

---