Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Riko Klootwijk"'
Autor:
Esther Platt, Francis Robertson, Ali Al-Rashed, Riko Klootwijk, Andrew Hall, Alberto Quaglia, Alan Salama, Lauren Heptinstall, Brian Davidson
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 10, p 5061 (2024)
Acute kidney injury (AKI) is common following liver transplantation and is associated with liver ischeamia reperfusion (IR) injury. The purpose of this study was to use a mouse model of liver IR injury and AKI to study the role of Neutrophil Gelatina
Externí odkaz:
https://doaj.org/article/0d1c867d337344b68274b79432f959df
Autor:
Riko Klootwijk, Marinos C. Dalakas, Susan Sparks, Molly Lalor, Paul J.M. Savelkoul, Eduard Orvisky, Donna M. Krasnewich, Marjan Huizing, William A. Gahl, Carla Ciccone
Publikováno v:
Glycobiology. 15:1102-1110
Hereditary inclusion body myopathy (HIBM) is an autosomal recessive neuromuscular disorder associated with mutations in uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase (GNE)/N-acetylmannosamine (ManNAc) kinase (MNK), the bifunction
Autor:
Régine P.M. Steegers-Theunissen, Mascha M.V.A.P. Schijvenaars, Barbara Franke, Edwin C. M. Mariman, Pascal M.W. Groenen, Huub Straatman, Riko Klootwijk
Publikováno v:
Molecular Genetics and Metabolism, 82, 2, pp. 154-61
Molecular Genetics and Metabolism, 82, 154-61
Molecular Genetics and Metabolism, 82(2), 154-161. Academic Press Inc.
Molecular Genetics and Metabolism, 82, 154-161. Academic Press
Molecular Genetics and Metabolism, 82, 154-61
Molecular Genetics and Metabolism, 82(2), 154-161. Academic Press Inc.
Molecular Genetics and Metabolism, 82, 154-161. Academic Press
Spina bifida and genetic factors related to myo-inositol, glucose, and zinc.Groenen PM, Klootwijk R, Schijvenaars MM, Straatman H, Mariman EC, Franke B, Steegers-Theunissen RP.Department of Epidemiology and Biostatistics, University Medical Center Ni
Autor:
Henny W. M. van Straaten, Barbara Franke, Roelie T. de Boer, Edwin C. M. Mariman, Riko Klootwijk, Hans J. ten Donkelaar, Johan W.M. Hekking
Publikováno v:
Anatomy and Embryology, 207, 3, pp. 255-62
Anatomy and Embryology, 207, 255-62
Anatomy and Embryology, 207(3), 255-262. Springer Verlag
Anatomy and Embryology, 207, 255-62
Anatomy and Embryology, 207(3), 255-262. Springer Verlag
Analysis of the embryonic phenotype of Bent tail, a mouse model for X-linked neural tube defects.Franke B, Klootwijk R, Hekking JW, de Boer RT, ten Donkelaar HJ, Mariman EC, van Straaten HW.Department of Human Genetics, University Medical Center Nijm
Autor:
Carolien G.F. de Kovel, Edwin C. M. Mariman, Barbara Franke, Régine P.M. Steegers-Theunissen, Riko Klootwijk, Bianca Lemmers
Publikováno v:
Birth Defects Research Part A-Clinical and Molecular Teratology, 67, 979-84
Birth Defects Research Part A-Clinical and Molecular Teratology, 67, 12, pp. 979-84
Birth Defects Research. Part A: Clinical and Molecular Teratology, 67(12), 979-984. Wiley-Liss Inc.
Birth Defects Research Part A-Clinical and Molecular Teratology, 67, 12, pp. 979-84
Birth Defects Research. Part A: Clinical and Molecular Teratology, 67(12), 979-984. Wiley-Liss Inc.
Phenotype of the neural tube defect mouse model bent tail is not sensitive to maternal folinic acid, myo-inositol, or zinc supplementation.Franke B, Klootwijk R, Lemmers B, de Kovel CG, Steegers-Theunissen RP, Mariman EC.Department of Human Genetics,
Autor:
Frans A. Hol, Riko Klootwijk, Catharina E. E. M. van der Zee, Wiljan Wilms, Barbara Franke, Roelie T. de Boer, Edwin C. M. Mariman
Publikováno v:
ResearcherID
Human Molecular Genetics, 9, 1615-1622
Human Molecular Genetics, 9, pp. 1615-1622
Human Molecular Genetics, 9, 1615-1622
Human Molecular Genetics, 9, pp. 1615-1622
Bent tail is a mouse model for human neural tube defects. Bent tail mice are characterized by a shortened, kinked tail. We have observed numerous aberrations in Bent tail embryos including exencephaly, rotation defects and occasionally omphalocele, o
Autor:
Irini Manoli, Donna M. Krasnewich, Marjan Huizing, Paul J.M. Savelkoul, Riko Klootwijk, William A. Gahl, Carla Ciccone, Natasha J. Caplen
Publikováno v:
The Faseb Journal, 22, 3846-52
The Faseb Journal, 22, 11, pp. 3846-52
The Faseb Journal, 22, 11, pp. 3846-52
Dominant disease alleles are attractive therapeutic targets for allele-specific gene silencing by small interfering RNA (siRNA). Sialuria is a dominant disorder caused by missense mutations in the allosteric site of GNE, coding for the rate-limiting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c51ae6e4f086868719b6659e899e6ef
https://doi.org/10.1096/fj.08-110890
https://doi.org/10.1096/fj.08-110890
Autor:
Patricia M. Zerfas, MaoSen Sun, Donna M. Krasnewich, Marjan Huizing, William A. Gahl, Riko Klootwijk, Victoria Hoffmann, Shelley Hoogstraten-Miller, Irini Manoli, Matthew F. Starost, Belinda Galeano, Daniel Darvish, Carla Ciccone
Publikováno v:
The Journal of clinical investigation. 117(6)
Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body myopathy (HIBM), an adult-onset, progressive neuromuscular d
Publikováno v:
Birth Defects Research Part A-Clinical and Molecular Teratology, 70, 880-4
Birth Defects Research Part A-Clinical and Molecular Teratology, 70, 11, pp. 880-4
Birth Defects Research. Part A: Clinical and Molecular Teratology, 70(11), 880-884. Wiley-Liss Inc.
Birth Defects Research Part A-Clinical and Molecular Teratology, 70, 11, pp. 880-4
Birth Defects Research. Part A: Clinical and Molecular Teratology, 70(11), 880-884. Wiley-Liss Inc.
Further characterization of the genetic defect of the Bent tail mouse, a mouse model for human neural tube defects.Klootwijk R, Schijvenaars MM, Mariman EC, Franke B.Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aff6fc532b41d8e989c9dde896f2320a
http://hdl.handle.net/2066/58395
http://hdl.handle.net/2066/58395
Autor:
Ben C.J. Hamel, Pascal M.W. Groenen, Edwin C. M. Mariman, Huub Straatman, Riko Klootwijk, Mascha M.V.A.P. Schijvenaars, Frans A. Hol, Barbara Franke, Régine P.M. Steegers-Theunissen
Publikováno v:
American Journal of Medical Genetics. Part A, 124, 40-7
American Journal of Medical Genetics. Part A, 124, 1, pp. 40-7
American Journal of Medical Genetics Part A, 124(1), 40-47. Wiley
American Journal of Medical Genetics. Part A, 124, 1, pp. 40-7
American Journal of Medical Genetics Part A, 124(1), 40-47. Wiley
Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.Klootwijk R, Groenen P, Schijvenaars M, Hol F, Hamel B, Straatman H, Steegers-Theunissen R, Mariman E, Franke B.Department of Human Genetics, Univer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9730b0a8e41fb2c3ddb2e5e06e43c344
http://hdl.handle.net/2066/58360
http://hdl.handle.net/2066/58360