Increased AID results in mutations at the CRLF2 locus implicated in Latin American ALL health disparities

Autor: Valeria Rangel, Jason N. Sterrenberg, Aya Garawi, Vyanka Mezcord, Melissa L. Folkerts, Sabrina E. Calderon, Yadhira E. Garcia, Jinglong Wang, Eli M. Soyfer, Oliver S. Eng, Jennifer B. Valerin, Sora Park Tanjasiri, Fabiola Quintero-Rivera, Marcus M. Seldin, Selma Masri, Richard L. Frock, Angela G. Fleischman, Nicholas R. Pannunzio

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

Abstract Activation-induced cytidine deaminase (AID) is a B cell-specific mutator required for antibody diversification. However, it is also implicated in the etiology of several B cell malignancies. Evaluating the AID-induced mutation load in patien

Externí odkaz: https://doaj.org/article/7199da5c9dc04e879f3964f64ebafee3

Correction: Cardiomyocyte-Specific Expression of Lamin A Improves Cardiac Function in Mice.

Autor: Richard L. Frock, Steven C. Chen, Dao-Fu Dai, Ellie Frett, Carmen Lau, Christina Brown, Diana N. Pak, Yuexia Wang, Antoine Muchir, Howard J. Worman, Luis F. Santana, Warren C. Ladiges, Peter S. Rabinovitch, Brian K. Kennedy

Publikováno v: PLoS ONE, Vol 7, Iss 9 (2012)

Externí odkaz: https://doaj.org/article/29d9bcf7338142eb8ccdd8273928f023

Shifted PAMs generate DNA overhangs and enhance SpCas9 post-catalytic complex dissociation

Autor: Jinglong Wang, Julien Le Gall, Richard L Frock, Terence R Strick

Streptococcus pyogenesCRISPR-Cas9 (SpCas9) stabilizes each strand of a DNA bubble via distinct interactions, forming a stable ~20 bp R-loop on the complementary strand but relying on narrower protein-DNA interactions to bind the non-complementary str

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::008c51286f2f93752874b7b67bc6ab0c
https://doi.org/10.1101/2022.11.08.515552

Development of β-globin gene correction in human hematopoietic stem cells as a potential durable treatment for sickle cell disease

Autor: Helen Segal, Sruthi Mantri, M. Kyle Cromer, Neehar Bhatia, Maria Grazia Roncarolo, Annalisa Lattanzi, Ciaran M. Lee, David DiGiusto, Rasmus O. Bak, Carsten T. Charlesworth, Josefin Kenrick, Jason Skowronski, Matthew H. Porteus, J. Fraser Wright, Richard L. Frock, Daniel P. Dever, Narae Talbott, Christopher A. Vakulskas, Joab Camarena, Gang Bao, Waracharee Srifa, Premanjali Lahiri, John F. Tisdale

Publikováno v: Sci Transl Med
Lattanzi, A, Camarena, J, Lahiri, P, Segal, H, Srifa, W, Vakulskas, C A, Frock, R L, Kenrick, J, Lee, C, Talbott, N, Skowronski, J, Cromer, M K, Charlesworth, C T, Bak, R O, Mantri, S, Bao, G, DiGiusto, D, Tisdale, J, Wright, J F, Bhatia, N, Roncarolo, M G, Dever, D P & Porteus, M H 2021, ' Development of β-globin gene correction in human hematopoietic stem cells as a potential durable treatment for sickle cell disease ', Science Translational Medicine, vol. 13, no. 598, eabf2444 . https://doi.org/10.1126/scitranslmed.abf2444

Sickle cell disease (SCD) is the most common monogenic serious disease with 300,000 births annually worldwide. SCD is autosomal recessive from a single point mutation in codon six of the β-globin gene (HBB) resulting in sickle hemoglobin. Ex vivo β

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::664c1c185e0b70b2cf6b0e1b79df95cb
https://doi.org/10.1126/scitranslmed.abf2444

Expanding the editable genome and CRISPR-Cas9 versatility using DNA cutting-free gene targeting based on in trans paired nicking

Autor: Qian Wang, Josephine M. Janssen, Marcella Brescia, Josefin Kenrick, Karoly Szuhai, Jin Liu, Francesca Tasca, Milena Bellin, Manuel A F V Gonçalves, Xiaoyu Chen, Richard L. Frock

Publikováno v: Nucleic Acids Research
Nucleic Acids Research, 48(2), 974-995. OXFORD UNIV PRESS

Genome editing typically involves recombination between donor nucleic acids and acceptor genomic sequences subjected to double-stranded DNA breaks (DSBs) made by programmable nucleases (e.g. CRISPR–Cas9). Yet, nucleases yield off-target mutations a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa13d225f17fdf8a2fe15ab92de7d716
http://hdl.handle.net/11577/3321878