Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Kai Brakensiek"'
CFTR, SPINK1, PRSS1, and CTRC Mutations Are Not Associated With Pancreatic Cancer in German Patients
Autor:
Madeleine Maelzer, Hans Kreipe, Britta Marohn, Manfred Stuhrmann, Kai Brakensiek, Frank Traub, Jochen Gaedcke, Kathrein von Kopylow, Stephanie Schubert
Publikováno v:
Pancreas. 43:1078-1082
OBJECTIVE Mutations in the cationic trypsinogen (PRSS1), cystic fibrosis transmembrane conductance regulator (CFTR), serine protease inhibitor Kazal type 1 (SPINK1), and chymotrypsin C (CTRC) genes are associated with an elevated risk for chronic pan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad73b7dee3b0f10f3ff2e8596aeb738
https://doi.org/10.1097/mpa.0000000000000166
https://doi.org/10.1097/mpa.0000000000000166
Autor:
Kais Hussein, Hans Kreipe, Kai Brakensiek, Birgitt Wiese, Jerome Schlue, Thomas Buhr, Oliver Bock
Publikováno v:
Leukemia Research. 31:799-803
The suppressor of cytokine signalling-1 (SOCS-1) is a negative regulator of signal transduction mediated by cytoplasmic tyrosine kinases such as the Janus kinases (JAKs). We investigated SOCS-1 expression in bone marrow cells from Philadelphia chromo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4134a89bed8f682a82dfcccdc33c7c0
https://doi.org/10.1016/j.leukres.2006.08.022
https://doi.org/10.1016/j.leukres.2006.08.022
Publikováno v:
Clinical Chemistry. 53:17-23
Background: Gene silencing through aberrant CpG island methylation is the most extensively analyzed epigenetic event in human tumorigenesis and has huge diagnostic and prognostic potential. Methylation patterns are often very heterogeneous, however,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0a2930eaf9b1bd10d108588bc8f38a
https://doi.org/10.1373/clinchem.2007.072629
https://doi.org/10.1373/clinchem.2007.072629
Publikováno v:
British Journal of Haematology. 130:209-217
Transcriptional silencing because of hypermethylation is now recognised to be a hallmark of human tumours. In contrast to acute myeloid leukaemia (AML), comparably little is known about aberrant methylation in myelodysplastic syndrome (MDS), a hetero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8651a6473f90ab8f6b7382edef92462
https://doi.org/10.1111/j.1365-2141.2005.05590.x
https://doi.org/10.1111/j.1365-2141.2005.05590.x
Publikováno v:
Annals of Hematology. 83:137-152
Inactivation of tumor suppressor genes is an important event contributing to the development of neoplasia. In addition to the classic genetic mechanisms of deletion or inactivating point mutations, growth regulatory genes can be functionally inactiva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2d58bec2702cf80534fdbe405ce287d
https://doi.org/10.1007/s00277-003-0798-7
https://doi.org/10.1007/s00277-003-0798-7
Juvenile hemochromatosis due to homozygosity for the G320V mutation in theHJVgene with fatal outcome
Autor:
Kai Brakensiek, Martin Strüber, Madeleine Mälzer, Hans Kreipe, C. Fegbeutel, Manfred Stuhrmann
Publikováno v:
Clinical Genetics. 76:493-495
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c41450e4136b506e5e7d46fe06fd87d
https://doi.org/10.1111/j.1399-0004.2009.01261.x
https://doi.org/10.1111/j.1399-0004.2009.01261.x
Autor:
Matthias Bormann, Matthias Ballmaier, Kais Hussein, Kai Brakensiek, Hans Kreipe, Gudrun Göhring, Thomas Buhr, Oliver Bock
Publikováno v:
European Journal of Haematology. 77:539-541
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98d454c5544944c25485ba0b0426af3e
https://doi.org/10.1111/j.0902-4441.2006.t01-1-ejh2940.x
https://doi.org/10.1111/j.0902-4441.2006.t01-1-ejh2940.x
Autor:
Britta M Rhode, Joerg Schmidtke, Christine Zuehlke, Madeleine Maelzer, Gabriele Krueger, Kai Brakensiek, Manfred Stuhrmann, Katrin Hinderhofer, Ingolf Boehm, Loukas Argyriou, Ingrid Bauer
Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83679364d5e0d1eb35828fbf6c4c2ec2
https://europepmc.org/articles/PMC2986213/
https://europepmc.org/articles/PMC2986213/
Autor:
Manfred Stuhrmann, N. Von Beckerath, H Frye-Boukhriss, P Muschke, Gerhard Wolff, E A El-Harith, Carsten Bergmann, M Caselitz, Kai Brakensiek, Konrad Oexle, Matthias J. Bahr, Gertrud Strobl-Wildemann, M Mälzer, Elke Holinski-Feder, Marc Abramowicz
Publikováno v:
Clinical genetics. 74(2)
Hereditary haemorrhagic telangiectasia (HHT) is a heterogeneous multisystemic dysplasia of the vascular tissue. This autosomal dominant inherited disorder shows a wide variation in its phenotypic expression. Between 8 and 78% of the HHT patients show
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac9c987bd1876e16d54a863d7f13c690
https://pubmed.ncbi.nlm.nih.gov/18498373
https://pubmed.ncbi.nlm.nih.gov/18498373
Autor:
Christian Becker, Kai Brakensiek, Iqbal A. Bukhari, Manfred Stuhrmann, H. Frye-Boukhriss, Joerg Schmidtke, E.H. El-Harith, J. Huebener, Gudrun Nürnberg, M.C. Miranda, Hans Christian Hennies, S. Knothe
Publikováno v:
Clinical genetics. 73(6)
Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are pigmentary dermatoses most commonly seen in Japan. Both disorders usually show autosomal dominant inheritance, although in some cases autosomal recessive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::751367cfa1fa8fb567bd1c53625ec8a9
https://pubmed.ncbi.nlm.nih.gov/18462451
https://pubmed.ncbi.nlm.nih.gov/18462451