F
Frank Baas
Researcher at Leiden University Medical Center
Publications - 446
Citations - 33815
Frank Baas is an academic researcher from Leiden University Medical Center. The author has contributed to research in topics: Gene & Complement system. The author has an hindex of 93, co-authored 434 publications receiving 31187 citations. Previous affiliations of Frank Baas include Flanders Institute for Biotechnology & Academic Medical Center.
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Journal ArticleDOI
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
Tessa van Dijk,Sabine Rudnik-Schöneborn,Jan Senderek,Ghazaleh Hajmousa,Hailiang Mei,Marina Dusl,Eleonora Aronica,Peter G. Barth,Frank Baas +8 more
TL;DR: This research presents a novel and scalable approaches, called “Smart Gene Regulation,” which aims to provide real-time information about the “building blocks” of disease-causing mutations and its consequences.
Journal ArticleDOI
Altered MRP is associated with multidrug resistance and reduced drug accumulation in human SW-1573 cells.
E. W. H. M. Eijdems,Guido J.R. Zaman,M. De Haas,C. H. M. Versantvoort,M. J. Flens,R.J. Scheper,E. Kamst,Piet Borst,Frank Baas +8 more
TL;DR: It is concluded that selection of the SW-1573 cell line for low levels of doxorubicin or vincristine resistance, predominantly results in MDR with reduced drug accumulation associated with the presence of an altered MRP protein.
Journal ArticleDOI
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
Tessa van Dijk,Sacha Ferdinandusse,Jos P.N. Ruiter,Marielle Alders,Inge B. Mathijssen,Jillian S. Parboosingh,A. Micheil Innes,Hanne Meijers-Heijboer,Bwee Tien Poll-The,Francois P. Bernier,Ronald J.A. Wanders,Ryan E. Lamont,Frank Baas +12 more
TL;DR: It is demonstrated that near complete loss of function variants in COASY are associated with lethal PCH and arthrogryposis.
Journal ArticleDOI
Deficiency of the complement regulator CD59a exacerbates Wallerian degeneration.
TL;DR: The contribution of CD59a, a cell membrane negative regulator of the MAC, to Wallerian degeneration is analyzed and the number of endoneurial macrophages was significantly higher inCD59a deficient mice compared to wildtypes at 1 day post-injury.
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Allele-specific cancer cell killing in vitro and in vivo targeting a single-nucleotide polymorphism in POLR2A.
TL;DR: In this paper, siRNAs were used against the gene of the large subunit of RNA polymerase II (POLR2A), a gene located in close proximity to the tumor suppressor gene p53, which frequently shows HOG in cancer cells.