Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Aida Sanchez-Bretaño"'
Autor:
Siying Lin, Aida Sanchez-Bretaño, Joseph S. Leslie, Katie B. Williams, Helena Lee, N. Simon Thomas, Jonathan Callaway, James Deline, J. Arjuna Ratnayaka, Diana Baralle, Melanie A. Schmitt, Chelsea S. Norman, Sheri Hammond, Gaurav V. Harlalka, Sarah Ennis, Harold E. Cross, Olivia Wenger, Andrew H. Crosby, Emma L. Baple, Jay E. Self
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
Abstract Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in Caucasians, accounting f
Externí odkaz:
https://doaj.org/article/8ddc9109fec74dd780fb8658772b15c8
Autor:
Aida Sanchez-Bretano, Eloise Keeling, Jennifer A. Scott, Savannah A. Lynn, Sudha Priya Soundara-Pandi, Sarah L. Macdonald, Tutte Newall, Helen Griffiths, Andrew J. Lotery, J. Arjuna Ratnayaka, Jay E. Self, Helena Lee
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-19 (2023)
Abstract l-DOPA is deficient in the developing albino eye, resulting in abnormalities of retinal development and visual impairment. Ongoing retinal development after birth has also been demonstrated in the developing albino eye offering a potential t
Externí odkaz:
https://doaj.org/article/6f488d00eb9a4864896e7ff1dbd57048
Autor:
Adnan H. Khan, Sudha Priya Soundara Pandi, Jennifer A. Scott, Aida Sánchez-Bretaño, Savannah A. Lynn, J. Arjuna Ratnayaka, Jessica L. Teeling, Andrew J. Lotery
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract There are no disease-modifying treatments available for geographic atrophy (GA), the advanced form of dry age-related macular degeneration. Current murine models fail to fully recapitulate the features of GA and thus hinder drug discovery. H
Externí odkaz:
https://doaj.org/article/3b39934a91814c1da2158e549a64bca4
Autor:
Aída Sánchez-Bretaño, Ayelén M Blanco, Suraj Unniappan, Olivier Kah, Marie-M Gueguen, Juan I Bertucci, Ángel L Alonso-Gómez, Ana I Valenciano, Esther Isorna, María J Delgado
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0141043 (2015)
Ghrelin is a gut-brain peptide hormone, which binds to the growth hormone secretagogue receptor (GHS-R) to regulate a wide variety of biological processes in fish. Despite these prominent physiological roles, no studies have reported the anatomical d
Externí odkaz:
https://doaj.org/article/8610caf2b435419f9cae2c527f89cdff