Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Charlotta Asplund"'
Autor:
Lotte N Moens, Elin Falk-Sörqvist, A Charlotta Asplund, Ewa Bernatowska, C I Edvard Smith, Mats Nilsson
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e114901 (2014)
Primary Immunodeficiencies (PID) are genetically inherited disorders characterized by defects of the immune system, leading to increased susceptibility to infection. Due to the variety of clinical symptoms and the complexity of current diagnostic pro
Externí odkaz:
https://doaj.org/article/10388e1e02d747618d5faad87f060639
Autor:
Birgitta Sander, A. Charlotta Asplund, Anna Porwit, Birger Christensson, Jenny Flygare, C. I. Edvard Smith, Xiao Wang
Publikováno v:
British Journal of Haematology. 143:248-252
Summary Gene expression analysis demonstrated high expression of the neuronal transcription factor SOX11 in mantle cell lymphoma (MCL). In contrast to follicular lymphoma, small lymphocytic lymphoma and reactive lymphoid tissue, most MCLs tested (48/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ed433424947cf36b120ce6b777c7dd0
https://doi.org/10.1111/j.1365-2141.2008.07329.x
https://doi.org/10.1111/j.1365-2141.2008.07329.x
Autor:
Lotte Moens, Elin Falk-Sörqvist, Mats Nilsson, Ewa Bernatowska, A. Charlotta Asplund, C. I. Edvard Smith
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e114901 (2014)
PLoS ONE
PLoS ONE
Primary Immunodeficiencies (PID) are genetically inherited disorders characterized by defects of the immune system, leading to increased susceptibility to infection. Due to the variety of clinical symptoms and the complexity of current diagnostic pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad3c4acc0f1747b52d179baee60531f6
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-242873
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-242873
Autor:
Gyu-Lin Hwang, C. I. Edvard Smith, A. Charlotta Asplund, Alexander Churbanov, Jana Kralovicova, Igor Vorechovsky
Publikováno v:
Nucleic Acids Research
GC 5' splice sites (5'ss) are present in ∼1% of human introns, but factors promoting their efficient selection are poorly understood. Here, we describe a case of X-linked agammaglobulinemia resulting from a GC 5'ss activated by a mutation in BTK in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc1ae934606bb2131b71e5c52570724
https://pubmed.ncbi.nlm.nih.gov/21609956
https://pubmed.ncbi.nlm.nih.gov/21609956
Autor:
Hana Hansikova, Carla M. Koehler, Jan Hadač, Anna Sediva, Jiří Zeman, Hans D. Ochs, Takeshi Futatani, Lenka Mrázová, Karin Roesch, Lenka Dvořáková, C. I. Edvard Smith, Sirje Velbri, Ales Janda, A. Charlotta Asplund, Kathleen E. Sullivan
Publikováno v:
Journal of clinical immunology. 27(6)
X-linked agammaglobulinemia (XLA) is characterized by low levels of B-lymphocytes with early-onset, recurrent, microbial infections occasionally causing neurological symptoms. We observed an atypical clinical course of XLA, complicated since early ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10ecd73ea3cd4636bc4ddd585bfe6b53
https://pubmed.ncbi.nlm.nih.gov/17851739
https://pubmed.ncbi.nlm.nih.gov/17851739
Autor:
Karin R. Engelhardt, Bernhard Fleckenstein, Ekrem Unal, C. I. Edvard Smith, Dietmar Pfeifer, Mohamed-Ridha Barbouche, Meriem Ben-Ali, Hans J. Stauss, Mohamed Bejaoui, Mirzokhid Rakhmanov, Lamia Borchani, Monia Khemiri, Stuart M. Haslam, Zineb Jouhadi, Khadija Khadir, Imen Ben-Mustapha, Bodo Grimbacher, Karin E. Lundin, A. Charlotta Asplund, Manfred Fliegauf, Uwe Kölsch, Gang Wu, A. Sassi, Sandra Lazaroski, Turkan Patiroglu, Magdalena Dziadzio, Anne Dell, Mats Nilsson, Sellama Nadifi, Khairunnadiya Prayitno, Mehmet Akif Ozdemir, Fethi Mellouli, Andrea Maul-Pavicic, Manuela O. Gustafsson, Helene Kraus, Hermann Eibel, Lotte Moens, Hatice Eke Gungor, Thilo Jakob, Elin Falk-Sörqvist, Alejandro A. Schäffer, Sandra Schaffer, Rebecca Meier, Leila Ben-Khemis, Philipp Henneke
Publikováno v:
The Journal of allergy and clinical immunology, vol 133, iss 5
Journal of Allergy and Clinical Immunology
Journal of Allergy and Clinical Immunology, Elsevier, 2014, 133 (5), pp.1410-9, 1419.e1-13. ⟨10.1016/j.jaci.2014.02.025⟩
Journal of Allergy and Clinical Immunology
Journal of Allergy and Clinical Immunology, Elsevier, 2014, 133 (5), pp.1410-9, 1419.e1-13. ⟨10.1016/j.jaci.2014.02.025⟩
International audience; BACKGROUND: Recurrent bacterial and fungal infections, eczema, and increased serum IgE levels characterize patients with the hyper-IgE syndrome (HIES). Known genetic causes for HIES are mutations in signal transducer and activ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e06ea38a2d45b30d631d9d4335a2ae68
https://doi.org/10.1016/j.jaci.2014.02.025
https://doi.org/10.1016/j.jaci.2014.02.025
Publikováno v:
Karolinska Institutet
We report a boy, born to consanguineous patients, with agammaglobulinemia associated with multiple physical anomalies: mild intrauterine growth retardation, extreme microphthalmia (clinical anophthalmia), severe microcephaly, blepharophimosis, long f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8e5ea554c727b02e683405b078d09c9
http://www.ncbi.nlm.nih.gov/pubmed/11424135
http://www.ncbi.nlm.nih.gov/pubmed/11424135