Zobrazeno 1 - 10
of 172
pro vyhledávání: '"M. Lamey"'
Autor:
Suzanne E. de Bruijn, Daan M. Panneman, Nicole Weisschuh, Elizabeth L. Cadena, Erica G. M. Boonen, Lara K. Holtes, Galuh D. N. Astuti, Frans P. M. Cremers, Nico Leijsten, Jordi Corominas, Christian Gilissen, Anna Skowronska, Jessica Woodley, Andrew D. Beggs, Vasileios Toulis, Di Chen, Michael E. Cheetham, Alison J. Hardcastle, Terri L. McLaren, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, John N. de Roach, Isabella R. Urwin, Lori S. Sullivan, Susanne Roosing
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionAutosomal dominant retinitis pigmentosa type 17 (adRP, type RP17) is caused by complex structural variants (SVs) affecting a locus on chromosome 17 (chr17q22). The SVs disrupt the 3D regulatory landscape by altering the topologically asso
Externí odkaz:
https://doaj.org/article/4befa15848f34806ac97263fee8b70c9
Autor:
Elaine Y.M. Wong, Xin E. Khoh, Shang-Chih Chen, Joey Lye, Fiona K. Leith, Dan Zhang, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Marcus D. Atlas, Fred K. Chen, Samuel McLenachan
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103492- (2024)
Usher syndrome (USH) is the most common cause of inherited deaf-blindness. Here, we produced the LEIi020-A and LEIi020-B induced pluripotent stem cell (iPSC) lines from dermal fibroblasts derived from a patient with USH1B caused by inheritance of hom
Externí odkaz:
https://doaj.org/article/d973400b1fc549acb8e519812dc07c06
Autor:
Dan Zhang, Luke Jennings, Shang-Chih Chen, Khine Zaw, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Fred K. Chen, Samuel McLenachan
Publikováno v:
Stem Cell Research, Vol 78, Iss , Pp 103461- (2024)
The human induced pluripotent stem cell (iPSC) line LEIi019-A was generated from a patient with early-onset pattern dystrophy caused by a heterozygous mutation NM_001270525.1:c.259G>A (p.Glu87Lys) in OTX2. Patient-derived dermal fibroblasts were repr
Externí odkaz:
https://doaj.org/article/bbeb1aa4647d4b17a4effd9d1ce86573
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Autor:
Sang Yoon Moon, Dan Zhang, Shang-Chih Chen, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Fred K. Chen, Samuel McLenachan
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102403- (2021)
Two human iPSC lines were generated from dermal fibroblasts derived from a patient with retinitis pigmentosa caused by CRB1 mutation using episomal plasmids containing OCT4, SOX2, LIN28, KLF4, L-MYC and mp53DD. These clonal iPSC lines carry compound
Externí odkaz:
https://doaj.org/article/5a6819c128a64d45bbb7e38085b0ffdf
Autor:
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D. Wilton, Samuel McLenachan, Fred K. Chen
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102439- (2021)
Mutations in ABCA4 gene are causative for autosomal recessive Stargardt disease (STGD1), the most common inherited retinal dystrophy. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a STGD1 patient carrying biallel
Externí odkaz:
https://doaj.org/article/f673ade02e254d86b1205023ee61cecb
Autor:
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D Wilton, Fred K. Chen, Samuel McLenachan
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102448- (2021)
Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546-–10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient
Externí odkaz:
https://doaj.org/article/34a974bb98524303b53c590d835d3881
Autor:
Dan Zhang, Samuel McLenachan, Shang-Chih Chen, Khine Zaw, Yaqin Alziyadat, Xiao Zhang, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Carla Mellough, John N. De Roach, Fred K. Chen
Publikováno v:
Stem Cell Research, Vol 51, Iss , Pp 102154- (2021)
The human induced pluripotent stem cell (iPSC) lines LEIi015-A and LEIi015-B were derived from a patient with inherited retinal disease caused by compound heterozygous mutations in the SNRNP200 gene (c.[1792C>T];[3341T>C]). Dermal fibroblasts were tr
Externí odkaz:
https://doaj.org/article/eabc865c124244e2b5ee92dd63786f8e
Autor:
Rachael C. Heath Jeffery, MChD, MPH, Jennifer A. Thompson, PhD, Johnny Lo, PhD, Tina M. Lamey, PhD, Terri L. McLaren, BSc, Ian L. McAllister, MD, David A. Mackey, MD, Ian J. Constable, MD, John N. De Roach, PhD, Fred K. Chen, MBBS, PhD
Publikováno v:
Ophthalmology Science, Vol 1, Iss 1, Pp 100005- (2021)
Purpose: To investigate atrophy expansion rate (ER) using ultra-widefield (UWF) fundus autofluorescence (FAF) in Stargardt disease (STGD1). Design: Retrospective, longitudinal study. Participants: Patients with biallelic ABCA4 mutations who were eval
Externí odkaz:
https://doaj.org/article/634825f6a4bb4ea69fd5bcd3e225d09f
Autor:
Xiao Zhang, Dan Zhang, Jennifer A. Thompson, Shang‐Chih Chen, Zhiqin Huang, Luke Jennings, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Fred K. Chen, Samuel McLenachan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Abstract Background Mutations in CLN3 cause Batten disease, however non‐syndromic CLN3 disease, characterized by retinal‐specific degeneration, has been also described. Here, we characterized an induced pluripotent stem cell (iPSC)‐derived dise
Externí odkaz:
https://doaj.org/article/b4d5cc7e409942f9920ed6551724a7d8