Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

Autor: Vanessa S. Fear, Catherine A. Forbes, Nicole C. Shaw, Kathryn O. Farley, Jessica L. Mantegna, Jasmin P. Htun, Genevieve Syn, Helena Viola, Henrietta Cserne Szappanos, Livia Hool, Michelle Ward, Gareth Baynam, Timo Lassmann

Publikováno v: Stem Cell Research & Therapy, Vol 14, Iss 1, Pp 1-14 (2023)

Abstract Background Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised lab

Externí odkaz: https://doaj.org/article/49a28e30727a4fc5a4c6a4dea486bcd8

Primary Nasal Epithelial Cells as a Surrogate Cell Culture Model for Type-II Alveolar Cells to Study ABCA-3 Deficiency

Autor: Nicole C. Shaw, Anthony Kicic, Sue Fletcher, Stephen D. Wilton, Stephen M. Stick, André Schultz

Publikováno v: Frontiers in Medicine, Vol 9 (2022)

ATP Binding Cassette Subfamily A Member 3 (ABCA-3) is a lipid transporter protein highly expressed in type-II alveolar (AT-II) cells. Mutations in ABCA3 can result in severe respiratory disease in infants and children. To study ABCA-3 deficiency in v

Externí odkaz: https://doaj.org/article/08a95605823d43db9d96e749495ca902

CRISPR/Cas9 generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

Autor: Kathryn Olivia Farley, Catherine A Forbes, Nicole C. Shaw, Michelle Ward, Gareth Baynam, Timo Lassmann, Vanessa S. Fear

An estimated 3.5–5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases can be difficult to diagnose, with patients experiencing diagnostic delays of 5–30 years.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e8e92ec542f24ccdca3a053ec8fcb11d
https://doi.org/10.21203/rs.3.rs-2914803/v1

Primary Nasal Epithelial Cells as a Surrogate Cell Culture Model for Type-II Alveolar Cells to Study ABCA-3 Deficiency

Autor: Nicole C. Shaw, Anthony Kicic, Sue Fletcher, Stephen D. Wilton, Stephen M. Stick, André Schultz

Publikováno v: Frontiers in medicine. 9

ATP Binding Cassette Subfamily A Member 3 (ABCA-3) is a lipid transporter protein highly expressed in type-II alveolar (AT-II) cells. Mutations in ABCA3 can result in severe respiratory disease in infants and children. To study ABCA-3 deficiency in v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8208a064edb9050b76b234ebaa296ccc
https://pubmed.ncbi.nlm.nih.gov/35265641

Dysregulated Notch Signaling in the Airway Epithelium of Children with Wheeze

Autor: Thomas Iosifidis, Erika N. Sutanto, Samuel T. Montgomery, Patricia Agudelo-Romero, Kevin Looi, Kak-Ming Ling, Nicole C. Shaw, Luke W. Garratt, Jessica Hillas, Kelly M. Martinovich, Elizabeth Kicic-Starcevich, Shyan Vijayasekaran, Francis J. Lannigan, Paul J. Rigby, Darryl A. Knight, Stephen M. Stick, Anthony Kicic

Publikováno v: Journal of Personalized Medicine
Journal of Personalized Medicine; Volume 11; Issue 12; Pages: 1323
Journal of Personalized Medicine, Vol 11, Iss 1323, p 1323 (2021)

The airway epithelium of children with wheeze is characterized by defective repair that contributes to disease pathobiology. Dysregulation of developmental processes controlled by Notch has been identified in chronic asthma. However, its role in airw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc981d9334620dc3f5d455ba0d140217
https://pubmed.ncbi.nlm.nih.gov/34945795