Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Daan M. Panneman"'
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:
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:
Yasmine J. Liu, Arwen W. Gao, Reuben L. Smith, Georges E. Janssens, Daan M. Panneman, Aldo Jongejan, Michel van Weeghel, Frédéric M. Vaz, Melissa J. Silvestrini, Louis R. Lapierre, Alyson W. MacInnes, Riekelt H. Houtkooper
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-18 (2022)
Abstract Deregulated energy homeostasis represents a hallmark of aging and results from complex gene-by-environment interactions. Here, we discovered that reducing the expression of the gene ech-6 encoding enoyl-CoA hydratase remitted fat diet-induce
Externí odkaz:
https://doaj.org/article/d938ea76b080454c99df73b92155dc9b
Autor:
Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz:
https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
Autor:
Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G. P. van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P. Mahalleh-Yousefi, Merel A. Post, Karin Huijben, Daan M. Panneman, Richard J. T. Rodenburg, Nicol C. Voermans, Alejandro Garanto, Werner J. H. Koopman, Hans J. C. T. Wessels, Marek J. Noga, Dirk J. Lefeber
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 9, p 8247 (2023)
Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder c
Externí odkaz:
https://doaj.org/article/764ad37d103c4846adf3b11e0471176b
Autor:
Benjamin Mc Clinton, Zelia Corradi, Martin McKibbin, Daan M. Panneman, Susanne Roosing, Erica G. M. Boonen, Manir Ali, Christopher M. Watson, David H. Steel, Frans P. M. Cremers, Chris F. Inglehearn, Rebekkah J. Hitti-Malin, Carmel Toomes
Publikováno v:
Genes; Volume 14; Issue 1; Pages: 191
Genes, 14, 1
Genes, 14
Genes
Genes, 14, 1
Genes, 14
Genes
Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs) have proved effective in id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc625647b55b98526bd790a5acaae8e
Autor:
Martin Konrad, Rolf Beetz, Marguerite Hureaux, Rosa Vargas-Poussou, Robert Kleta, Günter Klaus, Tom Nijenhuis, Ernie M.H.F. Bongers, Daan M. Panneman, Solenne Pelletier, Richard J. Rodenburg, Martin Kömhoff, André P van Beek, Pascal Houillier, Jean-Marie Coulibaly, Nine V A M Knoers, Marion Vallet, Stéphane Decramer, Melanie Chan, Glenn Anderson, Carsten Bergmann, Detlef Bockenhauer, Mohan Shenoy, Jeroen H. F. de Baaij, Eric J. Steenbergen, Chirag Patel, Albertien M. van Eerde, Karl-Peter Schlingmann, Daan H H M Viering, Andrew Mallett
Publikováno v:
J Am Soc Nephrol
Journal of the American Society of Nephrology, 33(2), 305-325. AMER SOC NEPHROLOGY
Journal of the American Society of Nephrology, 33, 305-325
Journal of the American Society of Nephrology, 33, 2, pp. 305-325
Journal of the American Society of Nephrology, 33(2), 305-325. AMER SOC NEPHROLOGY
Journal of the American Society of Nephrology, 33, 305-325
Journal of the American Society of Nephrology, 33, 2, pp. 305-325
Contains fulltext : 248375.pdf (Publisher’s version ) (Closed access) BACKGROUND: Gitelman syndrome is the most frequent hereditary salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. Gitelman syndrome is caused by bi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a337d9b6caae0450c90e5de3c4feae
https://europepmc.org/articles/PMC8819995/
https://europepmc.org/articles/PMC8819995/
Autor:
Rebekkah J, Hitti-Malin, Claire-Marie, Dhaenens, Daan M, Panneman, Zelia, Corradi, Mubeen, Khan, Anneke I, den Hollander, G Jane, Farrar, Christian, Gilissen, Alexander, Hoischen, Maartje, van de Vorst, Femke, Bults, Erica G M, Boonen, Patrick, Saunders, Susanne, Roosing, Frans P M, Cremers
Publikováno v:
Human Mutation, 43, 12, pp. 2234-2250
Human Mutation, 43, 2234-2250
Human Mutation, 43, 2234-2250
Contains fulltext : 286869.pdf (Publisher’s version ) (Closed access) Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::101f92e5f8659b4520fa6f6fe2d0dc49
https://repository.ubn.ru.nl/handle/2066/286869
https://repository.ubn.ru.nl/handle/2066/286869
Autor:
Lonny R. Levin, Arthur J. Verhoeven, Eduardo H. Gilglioni, Hang Lam Li, Richard J. Rodenburg, Simei Go, Daan M. Panneman, Jung-Chin Chang, Ronald P.J. Oude Elferink, Suzanne Duijst, Jochen Buck, Hsu-Li Huang
Publikováno v:
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 1862(4):148367. Elsevier
Biochimica et Biophysica Acta. Bioenergetics, 1862, 4
Biochimica et Biophysica Acta. Bioenergetics, 1862
Biochimica et Biophysica Acta. Bioenergetics, 1862, 4
Biochimica et Biophysica Acta. Bioenergetics, 1862
Contains fulltext : 231545.pdf (Publisher’s version ) (Open Access) The evolutionarily conserved soluble adenylyl cyclase (sAC, ADCY10) mediates cAMP signaling exclusively in intracellular compartments. Because sAC activity is sensitive to local co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b500d958f9e3f61fd42f544fa49f31d
https://pure.amc.nl/en/publications/soluble-adenylyl-cyclase-regulates-the-cytosolic-nadhnad-redox-state-and-the-bioenergetic-switch-between-glycolysis-and-oxidative-phosphorylation(ace0b296-6c12-4419-92dd-6d7f8c2e96c4).html
https://pure.amc.nl/en/publications/soluble-adenylyl-cyclase-regulates-the-cytosolic-nadhnad-redox-state-and-the-bioenergetic-switch-between-glycolysis-and-oxidative-phosphorylation(ace0b296-6c12-4419-92dd-6d7f8c2e96c4).html
Autor:
Louis R. Lapierre, Arwen W. Gao, Daan M. Panneman, Frédéric M. Vaz, Aldo Jongejan, Yasmine J. Liu, Georges E. Janssens, Alyson W. MacInnes, Michel van Weeghel, Melissa J. Silvestrini, Reuben L. Smith, Riekelt H. Houtkooper
SUMMARYDeregulated energy homeostasis represents a hallmark of aging and results from complex gene-by-environment interactions. Here, we discovered that reducing the expression of the gene ech-6 encoding enoyl-CoA hydratase remitted fat diet-induced
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14949a0bf393a91ecb138a82c15539f3
https://doi.org/10.1101/2020.11.02.364760
https://doi.org/10.1101/2020.11.02.364760