Genetic diseases

Autor: T. Inazu, T. Kawahara, H. Endou, N. Anzai, I. Sebesta, B. Stiburkova, K. Ichida, M. Hosoyamada, A. Testa, D. Leonardis, F. Catalano, A. Pisano, A. Mafrica, B. Spoto, M. C. Sanguedolce, R. M. Parlongo, G. Tripepi, M. Postorino, G. Enia, C. Zoccali, F. Mallamaci, M. Working Group, A. Luque de Pablos, V. Garcia-Nieto, J. C. Lopez-Menchero, E. Ramos-Trujillo, H. Gonzalez-Acosta, F. Claverie-Martin, M. Arsali, P. Demosthenous, L. Papazachariou, Y. Athanasiou, K. Voskarides, C. Deltas, A. Pierides, S. Lee, K. H. Jeong, C. Ihm, T. W. Lee, S. H. Lee, J. Y. Moon, J. G. Wi, H. J. Lee, E. Y. Kim, K. Rogacev, A. Friedrich, B. Hummel, J. Berg, A. Zawada, D. Fliser, J. Geisel, G. H. Heine, I. Brabcova, S. Dusilova-Sulkova, Z. Krejcik, V. Stranecky, K. Lipar, T. Marada, J. Stepankova, O. Viklicky, M. Buraczynska, P. Zukowski, W. Zaluska, A. Kuczmaszewska, A. Ksiazek, M. Gaggl, S. Weidner, M. Hofer, J. Kleinert, G. Fauler, M. Wallner, P. Kotanko, G. Sunder-Plassmann, E. Paschke, R. Heguilen, L. Albarracin, J. Politei, A. A. Liste, A. Bernasconi, E. Kusano, R. Russo, A. Pisani, G. Messalli, M. Imbriaco, L. Prikhodina, O. Ryzhkova, V. Polyakov, K. Lipkowska, D. Ostalska-Nowicka, M. Smiech, M. Jaroniec, K. Zaorska, W. Szaflarski, M. Nowicki, J. Zachwieja, G. D'arrigo, J. Moskowitz, S. Piret, A. Tashman, E. Velez, K. Lhotta, R. Thakker, J. Cox, J. Kingswood, J. Mbundi, G. Attard, U. Patel, A. Saggar, F. Elmslie, T. Doyle, A. Jansen, S. Jozwiak, E. Belousova, M. Frost, R. Kuperman, M. Bebin, B. Korf, R. Flamini, M. Kohrman, S. Sparagana, J. Wu, J. Ford, G. Shah, D. Franz, B. Zonnenberg, W. Cheung, S. Urva, J. Wang, C. Kingswood, K. Budde, T. Kofman, C. Narjoz, Q. Raimbourg, M. Roland, M.-A. Loriot, A. Karras, G. S. Hill, C. Jacquot, D. Nochy, E. Thervet, P. Jagodzinski, M. Mostowska, A. Oko, N. Nicolaou, S. Kevelam, M. Lilien, M. Oosterveld, R. Goldschmeding, A. Van Eerde, R. Pfundt, A. Sonnenberg, P. Ter Hal, N. Knoers, K. Renkema, T. Storm, R. Nielsen, E. Christensen, C. Frykholm, L. Tranebjaerg, H. Birn, P. Verroust, T. Neveus, B. Sundelin, J. M. Hertz, G. Holmstrom, K. Ericson, A. Fabris, D. Cremasco, A. Zambon, E. Muraro, M. Alessi, A. D'angelo, F. Anglani, D. Del Prete, A. Alkmim Teixeira, B. M. Quinto, C. Jose Rodrigues, A. Beltrame Ribeiro, M. Batista, A. Kerti, R. Csohany, A. Szabo, O. Arkossy, P. Sallai, V. Moriniere, V. Vega-Warner, O. Lakatos, T. Szabo, G. Reusz, K. Tory, M. Addis, E. Tosetto, C. Meloni, M. Ceol, R. Cristofaro, M. A. Melis, P. Vercelloni, G. Marra, S. Kaniuka, M. Nagel, W. Wolyniec, L. Obolonczyk, R. Swiatkowska-Stodulska, K. Sworczak, B. Rutkowski, C. Chen, L. Jiang, L. Chen, L. Fang, M. Mozes M., M. Boosi, L. Rosivall, G. Kokeny, R. Diana, O. Gross, T. Johanna, G. Rainer, C. Ayse, H. Henrik, M. Gerhard-Anton, M. Nabil, E. Intissar, H. Belge, J. Bloch, K. Dahan, Y. Pirson, P. Vanhille, N. Demoulin

Publikováno v: Nephrology Dialysis Transplantation. 27:ii320-ii329

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5bfaac771f531d7e6f82842212d59252
https://doi.org/10.1093/ndt/gfs232

A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing

Autor: C, Covaciu, F, Grosso, E, Pisaneschi, G, Zambruno, P A, Gregersen, M, Sommerlund, J M, Hertz, D, Castiglia

Publikováno v: The British journal of dermatology. 165(3)

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) (OMIM 604129) represents a distinct variant within the DEB clinical spectrum. It is characterized by intense pruritus and distinctive nodular prurigo-like and/or hypertrophic lichenoid lesions mai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c83b730d3c1feed498fd12a444ad1ebc
https://pubmed.ncbi.nlm.nih.gov/21574979

[The molecular genetic background of hereditary craniosynostoses and chondrodysplasias]

Autor: J M, Hertz, I, Juncker, L, Christensen, J R, Østergaard, P K, Jensen

Publikováno v: Ugeskrift for laeger. 163(36)

Fibroblast growth factors are structurally related proteins associated with cell growth, differentiation, migration, wound healing, angiogenesis, and oncogenesis. At the cellular level, their function is mediated by transmembrane tyrosinekinase recep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::03c048dfbe2ce929ff77dc3b11556bdf
https://pubmed.ncbi.nlm.nih.gov/11571861

[Juvenile neuronal ceroid lipofuscinosis]

Autor: J R, Ostergaard, J M, Hertz

Publikováno v: Ugeskrift for laeger. 160(26)

Neuronal ceroid-lipofuscinosis is a group of neurodegenerative diseases which are characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The diseases can be differentiated into several subgroups according to age

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::04310b5c4dbf98ecf51c6f2ba9d4af3f
https://pubmed.ncbi.nlm.nih.gov/9656828

Host-dependent evolution of the Sindbis virus promoter for subgenomic mRNA synthesis

Autor: J M Hertz, Henry V. Huang

Alphaviruses are alternately transmitted between arthropod and vertebrate hosts. In each host, the virus transcribes a subgenomic mRNA that encodes the viral structural proteins which encapsidate the genome to form progeny virions. Transcription init

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9560bbd8c5bdd7cd579a2ef4343bf577
https://europepmc.org/articles/PMC189720/