Zobrazeno 1 - 10
of 490
pro vyhledávání: '"D. A., Astuti"'
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:
Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract The USH2A variant c.2276 G > T (p.(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa (arRP). However, this is in contrast with the description of two asymptomatic individuals homoz
Externí odkaz:
https://doaj.org/article/6094fbd31fc64081a2b2723bd0ebe783
Autor:
M. S. Oud, R. M. Smits, H. E. Smith, F. K. Mastrorosa, G. S. Holt, B. J. Houston, P. F. de Vries, B. K. S. Alobaidi, L. E. Batty, H. Ismail, J. Greenwood, H. Sheth, A. Mikulasova, G. D. N. Astuti, C. Gilissen, K. McEleny, H. Turner, J. Coxhead, S. Cockell, D. D. M. Braat, K. Fleischer, K. W. M. D’Hauwers, E. Schaafsma, Genetics of Male Infertility Initiative (GEMINI) consortium, L. Nagirnaja, D. F. Conrad, C. Friedrich, S. Kliesch, K. I. Aston, A. Riera-Escamilla, C. Krausz, C. Gonzaga-Jauregui, M. Santibanez-Koref, D. J. Elliott, L. E. L. M. Vissers, F. Tüttelmann, M. K. O’Bryan, L. Ramos, M. J. Xavier, G. W. van der Heijden, J. A. Veltman
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)
Germline de novo mutations can impact individual fitness, but their role in human male infertility is understudied. Trio-based exome sequencing identifies many new candidate genes affecting male fertility, including an essential regulator of male ger
Externí odkaz:
https://doaj.org/article/da39d7bc3438462b91547e5622b3b7e7
Autor:
Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer-Wigman, Jordi Corominas, Galuh D. N. Astuti, Laura de Rooij, L. Ingeborgh van den Born, Caroline C. W. Klaver, Carel B. Hoyng, Niamh Wynne, Emma S. Duignan, Paul F. Kenna, Frans P. M. Cremers, G. Jane Farrar, Susanne Roosing
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)
Abstract Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain genetically unexplained following conven
Externí odkaz:
https://doaj.org/article/134ff20611604419a17d57355443d530
Publikováno v:
Tropical Animal Science Journal, Vol 45, Iss 3 (2022)
This study evaluated the effect of a flushing diet containing docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) from lemuru fish oil in ewe ration on colostrum quality and lamb performance. Twenty Garut ewes were divided into four treatments
Externí odkaz:
https://doaj.org/article/02df60ac3a07461fb4c542ace8a575a4
Publikováno v:
Tropical Animal Science Journal, Vol 44, Iss 3 (2021)
The mutant line of Brown-midrib sorghum has lower lignin content than conventional sorghum. The objectives of this research were to investigate the effects of plant maturity stages at harvest times on nutrient, fiber fraction, tannin content, volatil
Externí odkaz:
https://doaj.org/article/e8eb639106924bbda4a509ea09b1338b
Publikováno v:
Tropical Animal Science Journal, Vol 43, Iss 1 (2020)
The larvae of black soldier fly/BSF (Hermetia illucens) seems to be a considerable material as an alternative to antibiotic growth promoters (AGPs) since they are rich in antimicrobial peptides (AMPs) and lauric acid that can improve the health and i
Externí odkaz:
https://doaj.org/article/96e8ff6608584d30947c1a1249e5856a
Publikováno v:
Journal of the Indonesian Tropical Animal Agriculture, Vol 42, Iss 3, Pp 185-193 (2017)
The study was aimed to evaluate the increasing levels of ration energy, with fat-rich unsaturated fatty acids from sunflower oil on the nutrient intake, rumen fermentability and performance of ewes. The experiment used fifteen ewes of 1.5 years old,
Externí odkaz:
https://doaj.org/article/8709a7ca59d74b37b0d752ed89c4f6b0
Publikováno v:
Media Peternakan, Vol 40, Iss 2, Pp 111-117 (2017)
The objective of this research was to investigate the influences of generative stage on crude protein, crude fiber, ash, and crude fat contents as well as in-vitro dry matter and organic matter digestibilities of M-10 BMR sorghum mutant lines. This r
Externí odkaz:
https://doaj.org/article/3de1707b0cf749e58ec846d33805679a
Publikováno v:
Media Peternakan, Vol 40, Iss 2, Pp 118-127 (2017)
The objective of this study was to determine energy and protein requirements, for both maintenance and gain, of sheep in Indonesia by using a meta-analysis method. A database was developed from various in vivo experiments involving sheep as the exper
Externí odkaz:
https://doaj.org/article/a2fa523a60044ac9862d59bce33f0d75