Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Henny H Lemmink"'
Autor:
Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij‐Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser, Carolina Sepulveda, Andres M Lozano, Grace Yoon, Teresa Santiago‐Sim, Cedric S Asensio, Guy A Caldwell, Kim A Caldwell, David Chitayat, Judith Klumperman
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)
Abstract Vacuolar protein sorting 41 (VPS41) is as part of the Homotypic fusion and Protein Sorting (HOPS) complex required for lysosomal fusion events and, independent of HOPS, for regulated secretion. Here, we report three patients with compound he
Externí odkaz:
https://doaj.org/article/d01804508d9f4013b7635980e96e72a8
Autor:
Renske I Wadman, Marloes Stam, Marc D Jansen, Yana van der Weegen, Camiel A Wijngaarde, Oliver Harschnitz, Peter Sodaar, Kees P J Braun, Dennis Dooijes, Henny H Lemmink, Leonard H van den Berg, W Ludo van der Pol
Publikováno v:
PLoS ONE, Vol 11, Iss 11, p e0167087 (2016)
Clinical trials to test safety and efficacy of drugs for patients with spinal muscular atrophy (SMA) are currently underway. Biomarkers that document treatment-induced effects are needed because disease progression in childhood forms of SMA is slow a
Externí odkaz:
https://doaj.org/article/e99f54abe7b64ae79f3fd84102bb4fb4
Autor:
Julia M. K. Clabbers, Marieke C. Bolling, Charlotte Burms, Maaike Vreeburg, Henny H. Lemmink, Peter C. van den Akker, Peter M. Steijlen, Michel van Geel, Antoni H. Gostyński
Publikováno v:
Journal of the European Academy of Dermatology and Venereology, 37(4), e486-e490. Wiley
Journal of the European Academy of Dermatology and Venereology, 37(4), E486-E490. Wiley
Journal of the European Academy of Dermatology and Venereology, 37(4), E486-E490. Wiley
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c74822fec6e198faff0095b4734df58f
https://research.rug.nl/en/publications/926604b1-0dc4-42f2-b4d9-a199eb5cc72e
https://research.rug.nl/en/publications/926604b1-0dc4-42f2-b4d9-a199eb5cc72e
Autor:
Clara Harrs, Peter C. van den Akker, Rosalie Baardman, José C. Duipmans, Barbara Horváth, Marloes S. van Kester, Henny H. Lemmink, Emoke Rácz, Marieke C. Bolling, Gilles F.H. Diercks
Publikováno v:
The British journal of dermatology, 187(5), 824-826. Wiley
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::819f519c620fbd1b33eda2903fc65bd6
https://research.rug.nl/en/publications/59b2a28c-1075-4026-a48f-287947bef7f8
https://research.rug.nl/en/publications/59b2a28c-1075-4026-a48f-287947bef7f8
Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa
Autor:
Henny H. Lemmink, Gilles F. H. Diercks, P. C. van den Akker, R. Baardman, Sabrina Z. Jan, M.C. Bolling, Jeroen Bremer
Publikováno v:
Journal of the European Academy of Dermatology and Venereology, 35(9), 597-600. Wiley
Autor:
David Chitayat, Carolina Sepulveda, Tineke Veenendaal, Grace Yoon, Cedric S. Asensio, Henny H. Lemmink, Nalan Liv, Susan Zwakenberg, Andres M. Lozano, Guy A. Caldwell, Edward F Griffin, Fried J. T. Zwartkruis, Rolph Pfundt, Reini E.N. van der Welle, Judith Klumperman, Corlinda ten Brink, Christian H. Burns, Lan Chen, Rebekah Jobling, Paolo Sanza, Susan Blaser, Teresa Santiago-Sim, Alfonso Fasano, Kim A. Caldwell, Jan van der Beek, Conny M. A. van Ravenswaaij-Arts
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)
EMBO Molecular Medicine, 13
EMBO Molecular Medicine, 13, 5
EMBO Molecular Medicine, 13(5):13243, 1-24. Wiley
EMBO Molecular Medicine
EMBO Molecular Medicine, 13
EMBO Molecular Medicine, 13, 5
EMBO Molecular Medicine, 13(5):13243, 1-24. Wiley
EMBO Molecular Medicine
Vacuolar protein sorting 41 (VPS41) is as part of the Homotypic fusion and Protein Sorting (HOPS) complex required for lysosomal fusion events and, independent of HOPS, for regulated secretion. Here, we report three patients with compound heterozygou
Autor:
Bernt Popp, Shelby Romoser, Lara Menzies, Stacey A. Bélanger, Alireza Radmanesh, Kimberly A. Aldinger, Jennifer Keller-Ramey, Janice Baker, Jane A. Hurst, William B. Dobyns, Schahram Akbarian, Sébastien Jacquemont, Jan Maarten Cobben, Larissa Kerecuk, Kelly Radtke, Joseph T. Shieh, Khadije Jizi, Ian A. Glass, Patrick Watts, Nicola Foulds, Jerica Lenberg, Sumit Punj, George E. Hoganson, Nancy J. Mendelsohn, Rachel Rabin, Ina Sorge, Katarzyna A. Ellsworth, Katharina Löhner, Manuela Siekmeyer, Jennifer Burton, Leah Dowsett, John A. Bernat, Hannah Bombei, John Pappas, Henny H. Lemmink, Francis H. Sansbury, Ingrid M. Wentzensen, Kirsty McWalter, Deborah Osio, Pamela Trapane, Hermine E. Veenstra-Knol
Publikováno v:
American journal of medical genetics. Part A, 182(9), 2037-2048. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 182(9), 2037-2048. Wiley
American Journal of Medical Genetics. Part A, 182(9), 2037-2048. Wiley
The SET domain containing 2, histone lysine methyltransferase encoded by SETD2 is a dual-function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and cytoskeletal function
Autor:
Sabrina Z. Jan, Peter C. van den Akker, Henny H. Lemmink, Gilles F. H. Diercks, Marie L A Schuttelaar, Maria C. Bolling, Hendri H. Pas, Laura Loman, Klaziena Politiek
Publikováno v:
Contact Dermatitis
CONTACT DERMATITIS, 83(3), 196-205. Wiley
CONTACT DERMATITIS, 83(3), 196-205. Wiley
BACKGROUND: Hyperkeratotic hand eczema (HHE) is a typical clinical hand eczema subtype with a largely unknown pathophysiology.OBJECTIVE: To investigate histopathology, expression of keratins (K), epidermal barrier proteins, and adhesion molecules in
Autor:
Aileen Sandilands, Henny H. Lemmink, Anna M.G. Pasmooij, Robert J Sietsma, Robyn P. Hickerson, Peter C. Van Den Akker, K. Joeri van der Velde, Jeroen Bremer, Morris A. Swertz, Nine V A M Knoers, Marieke C. Bolling, Franciscus C Vermeer
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 12222, p 12222 (2021)
International Journal of Molecular Sciences, Vol 22, Iss 12222, p 12222 (2021)
Epidermolysis bullosa is a group of genetic skin conditions characterized by abnormal skin (and mucosal) fragility caused by pathogenic variants in various genes. The disease severity ranges from early childhood mortality in the most severe types to
Autor:
Huiping Zhu, Gary J. Latham, Jessica L. Larson, Ya-Wen Huang, Caren Gentile, Henny H. Lemmink, Johanna Schleutker, Tsang-Ming Ko, Vivianna M. Van Deerlin, Kristin M. Abbott, Minna Toivonen, John N. Milligan, Walairat Laosinchai-Wolf, Stela Filipovic-Sadic
Publikováno v:
Journal of molecular diagnostics, 23(6), 753-764. ELSEVIER SCIENCE INC
J Mol Diagn
J Mol Diagn
Spinal muscular atrophy is a severe autosomal recessive disease caused by disruptions in the SMN1 gene. The nearly identical SMN2 gene copy number is associated with disease severity. SMN1 duplication markers, such as c.*3+80T>G and c.*211_*212del, c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92ec57853e976c37d5479aa151cdc6c1
https://research.rug.nl/en/publications/d7553b59-7a1d-4848-95cc-0efe7d7b1c4d
https://research.rug.nl/en/publications/d7553b59-7a1d-4848-95cc-0efe7d7b1c4d