Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Rob W J Collin"'
Autor:
Suzan M Hammond, Annemieke Aartsma‐Rus, Sandra Alves, Sven E Borgos, Ronald A M Buijsen, Rob W J Collin, Giuseppina Covello, Michela A Denti, Lourdes R Desviat, Lucía Echevarría, Camilla Foged, Gisela Gaina, Alejandro Garanto, Aurelie T Goyenvalle, Magdalena Guzowska, Irina Holodnuka, David R Jones, Sabine Krause, Taavi Lehto, Marisol Montolio, Willeke Van Roon‐Mom, Virginia Arechavala‐Gomeza
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 4, Pp n/a-n/a (2021)
Abstract Nucleic acid‐based therapeutics that regulate gene expression have been developed towards clinical use at a steady pace for several decades, but in recent years the field has been accelerating. To date, there are 11 marketed products based
Externí odkaz:
https://doaj.org/article/76e52486fd764de6bb07b4e5106b079a
Autor:
Muriël Messchaert, Margo Dona, Sanne Broekman, Theo A Peters, Julio C Corral-Serrano, Ralph W N Slijkerman, Erwin van Wijk, Rob W J Collin
Publikováno v:
PLoS ONE, Vol 13, Iss 7, p e0200789 (2018)
Mutations in eyes shut homolog (EYS), a gene predominantly expressed in the photoreceptor cells of the retina, are among the most frequent causes of autosomal recessive (ar) retinitis pigmentosa (RP), a progressive retinal disorder. Due to the absenc
Externí odkaz:
https://doaj.org/article/0d19b46657b94f33aa2ca97841973e82
Autor:
Maleeha Maria, Muhammad Ajmal, Maleeha Azam, Nadia Khalida Waheed, Sorath Noorani Siddiqui, Bilal Mustafa, Humaira Ayub, Liaqat Ali, Shakeel Ahmad, Shazia Micheal, Alamdar Hussain, Syed Tahir Abbas Shah, Syeda Hafiza Benish Ali, Waqas Ahmed, Yar Muhammad Khan, Anneke I den Hollander, Lonneke Haer-Wigman, Rob W J Collin, Muhammad Imran Khan, Raheel Qamar, Frans P M Cremers
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0119806 (2015)
BackgroundHomozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset
Externí odkaz:
https://doaj.org/article/52505016e9c6419fbe33ec4331671492
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0126660 (2015)
Several dog breeds are susceptible to developing primary angle closure glaucoma (PACG), which suggests a genetic basis for the disease. We have identified a four-generation Basset Hound pedigree with characteristic autosomal recessive PACG that close
Externí odkaz:
https://doaj.org/article/6e9d277f8cf04730b5824a23555ed1f4
Autor:
Melita Kaltak, Petra de Bruijn, Willemijn van Leeuwen, Gerard Platenburg, Frans P. M. Cremers, Rob W. J. Collin, Jim Swildens
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Stargardt disease type 1 (STGD1), the most common form of hereditary macular dystrophy, can be caused by biallelic combinations of over 2200 variants in the ABCA4 gene. This leads to reduced or absent ABCA4 protein activity, resulting in tox
Externí odkaz:
https://doaj.org/article/60dfc9994f29491fbe23cd17aa346c9d
Autor:
Alejandro Garanto, Sylvia E C van Beersum, Theo A Peters, Ronald Roepman, Frans P M Cremers, Rob W J Collin
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e79369 (2013)
Leber congenital amaurosis (LCA) is the most severe form of retinal dystrophy with an onset in the first year of life. The most frequent genetic cause of LCA, accounting for up to 15% of all LCA cases in Europe and North-America, is a mutation (c.299
Externí odkaz:
https://doaj.org/article/8d6cf74a58e940fb9c1a9318b100e144
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.
Autor:
Qin Liu, Rob W J Collin, Frans P M Cremers, Anneke I den Hollander, L Ingeborgh van den Born, Eric A Pierce
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e43251 (2012)
Mutations in the retinitis pigmentosa 1 (RP1) gene are a common cause of autosomal dominant retinitis pigmentosa (adRP), and have also been found to cause autosomal recessive RP (arRP) in a few families. The 33 dominant mutations and 6 recessive RP1
Externí odkaz:
https://doaj.org/article/1c0deac3c0c941879c0ae5a972eeb160
Autor:
Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin
Publikováno v:
Cells, Vol 13, Iss 7, p 601 (2024)
Precision medicine is rapidly gaining recognition in the field of (ultra)rare conditions, where only a few individuals in the world are affected. Clinical trial design for a small number of patients is extremely challenging, and for this reason, the
Externí odkaz:
https://doaj.org/article/78195cd5174e462d99f4bd1b2718bd4e
Autor:
Siebren Faber, Stef J. F. Letteboer, Katrin Junger, Rossano Butcher, Trinadh V. Satish Tammana, Sylvia E. C. van Beersum, Marius Ueffing, Rob W. J. Collin, Qin Liu, Karsten Boldt, Ronald Roepman
Publikováno v:
Cells, Vol 12, Iss 2, p 312 (2023)
Mutations in PDE6D impair the function of its cognate protein, phosphodiesterase 6D (PDE6D), in prenylated protein trafficking towards the ciliary membrane, causing the human ciliopathy Joubert Syndrome (JBTS22) and retinal degeneration in mice. In t
Externí odkaz:
https://doaj.org/article/12a6f3da617b4ffea1586043b075c872
Autor:
Tomasz Z. Tomkiewicz, Sara E. Nieuwenhuis, Frans P. M. Cremers, Alejandro Garanto, Rob W. J. Collin
Publikováno v:
Cells, Vol 11, Iss 24, p 3947 (2022)
Stargardt disease is an inherited retinal disease caused by biallelic mutations in the ABCA4 gene, many of which affect ABCA4 splicing. In this study, nine antisense oligonucleotides (AONs) were designed to correct pseudoexon (PE) inclusion caused by
Externí odkaz:
https://doaj.org/article/d332dd9035664406962ab8615069c299