Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Anne-Sophie Fröjmark"'
Autor:
Alvaro Martinez Barrio, Oskar Eriksson, Jitendra Badhai, Anne-Sophie Fröjmark, Erik Bongcam-Rudloff, Niklas Dahl, Jens Schuster
Publikováno v:
PLoS ONE, Vol 4, Iss 7, p e6172 (2009)
BACKGROUND:The Ribosomal protein S19 gene locus (RPS19) has been linked to two kinds of red cell aplasia, Diamond-Blackfan Anemia (DBA) and Transient Erythroblastopenia in Childhood (TEC). Mutations in RPS19 coding sequences have been found in 25% of
Externí odkaz:
https://doaj.org/article/1397e6ce9ec2458c98500f323201eb89
Autor:
Sadia Nawaz, Miriam Entesarian, Dana Gabrikova, Joakim Klar, Shahid Mahmood Baig, Niklas Dahl, Michaela B.C. Kilander, Maria Sobol, Gunnar Schulte, Anne-Sophie Fröjmark, Jens Schuster
Publikováno v:
The American Journal of Human Genetics. 88(6):852-860
Inherited and isolated nail malformations are rare and heterogeneous conditions. We identified two consanguineous pedigrees in which some family members were affected by isolated nail dysplasia that suggested an autosomal-recessive inheritance patter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47f9a468467406774f7d57613167b80f
Autor:
Maria Thuveson, Anne-Sophie Fröjmark, Niklas Dahl, Jens Schuster, Jitendra Badhai, Joakim Klar
Publikováno v:
Nature Precedings
Diamond Blackfan anemia (DBA) is a bone marrow failure syndrome associated with heterozygous mutations in the ribosomal protein S19 (RPS19) gene in a subgroup of patients. One of the interacting partners with RPS19 is the oncoprotein PIM-1 kinase. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64763834c21d0f563d2b55357a4a52b
https://doi.org/10.1007/s00109-009-0558-9
https://doi.org/10.1007/s00109-009-0558-9
Autor:
Göran Carlsson, Niklas Dahl, Anne-Sophie Fröjmark, Alicja Trebinska, Bengt Fadeel, Siriporn Jitkaew, Anders Nordström, Janne Lehtiö, Ewa A. Grzybowska
Publikováno v:
Journal of Biological Chemistry. 284:27827-27837
N(alpha)-tosyl-L-phenylalanine chloromethylketone (TPCK) has been widely used to investigate signal transduction pathways that are involved in gene expression and cell survival/cell death. However, contradictory effects of TPCK on apoptosis have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a885195ad643f465e5efe50f65f685fb
https://doi.org/10.1074/jbc.m109.027912
https://doi.org/10.1074/jbc.m109.027912
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1792:1036-1042
Diamond–Blackfan anemia (DBA) is a severe congenital anemia characterized by a specific decrease of erythroid precursors. The disease is also associated with growth retardation, congenital malformations, a predisposition for malignant disease and h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96c8114fb220204775d14970f1635e39
https://doi.org/10.1016/j.bbadis.2009.08.002
https://doi.org/10.1016/j.bbadis.2009.08.002
Autor:
Chang-Yi Cui, Niklas Dahl, Anne-Sophie Fröjmark, Patrik Georgii-Heming, David Schlessinger, Joakim Klar, Shahid Mahmood Baig
Publikováno v:
The Journal of investigative dermatology
Nails protect the soft tissue of the tips of digits. The molecular mechanism of nail (and claw) development is largely unknown, but we have recently identified a Wnt receptor gene, Frizzled6 ( Fzd6 ), that is mutated in a human autosomal-recessive na
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e481cb00f215feff60ad5c30f2a579e
https://pubmed.ncbi.nlm.nih.gov/23439395
https://pubmed.ncbi.nlm.nih.gov/23439395
Autor:
Mutlu Kartal, Maud Simansour, Adrianna Vlachos, Ilenia Boria, Emanuela Garelli, Catherine Clinton, Irma Dianzani, Thierry Leblanc, Hanna T. Gazda, Niklas Dahl, Michael Landowski, Mee Rie Sheen, Ugo Ramenghi, Christopher Buros, Eva Atsidaftos, Alan H. Beggs, Anna Aspesi, Lori J. Dobson, Elisa Pavesi, Alexis Proust, Lydie Da Costa, Paola Quarello, Dagmar Pospisilova, Steven R. Ellis, Jeffrey M. Lipton, Joerg J Meerpohl, Daniela Ferrante, Anne-Sophie Fröjmark, Radek Cmejla
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2010, 31 (12), pp.1269. ⟨10.1002/humu.21383⟩
Human Mutation, Wiley, 2010, 31 (12), pp.1269. ⟨10.1002/humu.21383⟩
International audience; Diamond-Blackfan Anemia (DBA) is characterized by a defect in erythroid progenitor differentation and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3965492fbf71a9956c15e4090e655ee2
https://europepmc.org/articles/PMC4485435/
https://europepmc.org/articles/PMC4485435/
Autor:
Niklas Dahl, Jitendra Badhai, Anders Virtanen, Anne-Sophie Fröjmark, Per Nilsson, Jens Schuster
Heterozygous mutations in the ribosomal protein S19 (RPS19) gene are associated with Diamond-Blackfan anemia (DBA). The mechanism by which RPS19 mediates anemia are still unclear, as well as the regulation of RPS19 expression. We show herein that RPS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::defdea4025c8bcfa932cb325f0a4b409
https://europepmc.org/articles/PMC2878864/
https://europepmc.org/articles/PMC2878864/
Autor:
Niklas Dahl, Jitendra Badhai, Erik Bongcam-Rudloff, Anne-Sophie Fröjmark, Jens Schuster, Alvaro Martinez Barrio, Oskar Eriksson
Publikováno v:
PLoS ONE, Vol 4, Iss 7, p e6172 (2009)
PLoS ONE
PLoS ONE
BACKGROUND: The Ribosomal protein S19 gene locus (RPS19) has been linked to two kinds of red cell aplasia, Diamond-Blackfan Anemia (DBA) and Transient Erythroblastopenia in Childhood (TEC). Mutations in RPS19 coding sequences have been found in 25% o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8d30be2ec670dc1ddd35a07713e1dc7
http://europepmc.org/articles/PMC2703794?pdf=render
http://europepmc.org/articles/PMC2703794?pdf=render
Autor:
Gunnar Ronquist, Hans Matsson, B Landin, Taiju Utsugisawa, Niklas Dahl, Anne-Sophie Fröjmark, Johan Flygare, E. Zahou, Eva Davey, I. Byman, Stefan Karlsson, Koichi Miyake
Publikováno v:
Blood cells, moleculesdiseases. 36(2)
The human ribosomal protein S19 gene (RPS19) is mutated in approximately 20% of patients with Diamond-Blackfan anemia (DBA), a congenital disease with a specific defect in erythropoiesis. The clinical expression of DBA is highly variable, and subclin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd2a4d30003342edfe24d6d48fe14792
https://pubmed.ncbi.nlm.nih.gov/16458028
https://pubmed.ncbi.nlm.nih.gov/16458028