Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Ekkehart, Lausch"'
Autor:
Oliver Semler, Valérie Cormier-Daire, Ekkehart Lausch, Michael Bober, Ricki Carroll, Sérgio Sousa, David Deyle, Maha Faden, Gabriele Hartmann, Aaron Huser, Janet Legare, Klaus Mohnike, Tilman Rohrer, Frank Rutsch, Pamela Smith, Andre Travessa, Angela Verado, Klane White, William Wilcox, Julie Hoover-Fong
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100367- (2023)
Externí odkaz:
https://doaj.org/article/c9cb411227d9405a962dddbd42427b71
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100366- (2023)
Externí odkaz:
https://doaj.org/article/ef0d81935dbd4ae4b558b3f4e822e6b5
Autor:
Alzbeta Chabronova, Guus G.H. van den Akker, Mandy M.F. Meekels-Steinbusch, Franziska Friedrich, Andy Cremers, Don A.M. Surtel, Mandy J. Peffers, Lodewijk W. van Rhijn, Ekkehart Lausch, Bernhard Zabel, Marjolein M.J. Caron, Tim J.M. Welting
Publikováno v:
Non-coding RNA Research, Vol 6, Iss 4, Pp 211-224 (2021)
Mutations in the non-coding snoRNA component of mitochondrial RNA processing endoribonuclease (RMRP) are the cause of cartilage-hair hypoplasia (CHH). CHH is a rare form of metaphyseal chondrodysplasia characterized by disproportionate short stature
Externí odkaz:
https://doaj.org/article/d37c8f7d561c4191a6c92acb6d382bcf
Autor:
Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal, Ute Spiekerkoetter
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-6 (2019)
Abstract Background PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of life. While m
Externí odkaz:
https://doaj.org/article/2b3d0ef2808a492da22c59a02fc9e1fc
Autor:
Mandy M. F. Steinbusch, Marjolein M. J. Caron, Don A. M. Surtel, Franziska Friedrich, Ekkehart Lausch, Ger J. M. Pruijn, Wouter Verhesen, Blanche L. M. Schroen, Lodewijk W. van Rhijn, Bernhard Zabel, Tim J. M. Welting
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-15 (2017)
Abstract Mutations in the RMRP-gene, encoding the lncRNA component of the RNase MRP complex, are the origin of cartilage-hair hypoplasia. Cartilage-hair hypoplasia is associated with severe dwarfism caused by impaired skeletal development. However, i
Externí odkaz:
https://doaj.org/article/fe524fe2574a400f80a3473252df828a
Autor:
Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, Julie Deuquet, Alessandra Piersigilli, Sabine Scholl-Bürgi, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, Paolo Bonaldo, F. Gisou van der Goot
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
Hyaline fibromatosis syndrome (HFS) is a hereditary disease characterized by nodular cutaneous lesions and joint pain. Here Bürgiet al. show that CMG2/ANTXR2 regulates collagen VI abundance, with loss-of-function mutations promoting collagen VI accu
Externí odkaz:
https://doaj.org/article/4a3ba698348d47b29640ed06c5b22c1a
Autor:
Sarah C. Grünert, Uta Matysiak, Franka Hodde, Gunda Ruzaike, Ekkehart Lausch, Anke Schumann, Natascha van der Werf-Grohmann, Ute Spiekerkoetter, Miriam Schmidts
Publikováno v:
Diagnostics, Vol 11, Iss 5, p 749 (2021)
Hypomethylation of H19 and IGF2 can cause Silver–Russell syndrome (SRS), a clinically and genetically heterogeneous condition characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, craniofacial abnormalities
Externí odkaz:
https://doaj.org/article/84dc88eb5cec4a3f8fd53f21847b48ce
Autor:
Carsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, Shinsuke Hirabayashi, Axel Karow, Nina Kathrin Serwas, Marc Hoemberg, Natalja Damatova, Detlev Schindler, Jean-Baptiste Vannier, Simon J. Boulton, Ulrich Pannicke, Gudrun Göhring, Kathrin Thomay, J. J. Verdu-Amoros, Holger Hauch, Wilhelm Woessmann, Gabriele Escherich, Eckart Laack, Liliana Rindle, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Christine Jandrasits, Brigitte Strahm, Klaus Schwarz, Stephan R. Ehl, Charlotte Niemeyer, Kaan Boztug, Marcin W. Wlodarski
Publikováno v:
Frontiers in Immunology, Vol 8 (2017)
Externí odkaz:
https://doaj.org/article/aff9d9e403914c2da0bc8f7268e40a89
Autor:
Marcin W. Wlodarski, Carsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, Shinsuke Hirabayashi, Axel Karow, Nina Kathrin Serwas, Marc Hoemberg, Natalja Damatova, Detlev Schindler, Jean-Baptiste Vannier, Simon J. Boulton, Ulrich Pannicke, Gudrun Göhring, Kathrin Thomay, J. J. Verdu-Amoros, Holger Hauch, Wilhelm Woessmann, Gabriele Escherich, Eckart Laack, Liliana Rindle, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Christine Jandrasits, Brigitte Strahm, Klaus Schwarz, Stephan R. Ehl, Charlotte Niemeyer, Kaan Boztug
Publikováno v:
Frontiers in Immunology, Vol 8 (2017)
Typical features of dyskeratosis congenita (DC) resulting from excessive telomere shortening include bone marrow failure (BMF), mucosal fragility, and pulmonary or liver fibrosis. In more severe cases, immune deficiency and recurring infections can a
Externí odkaz:
https://doaj.org/article/1fbb1ff9ba8e42518ea8929e20f116f1
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162466 (2016)
Genome-wide association studies (GWAS) evaluate associations between genetic variants and a trait or disease of interest free of prior biological hypotheses. GWAS require stringent correction for multiple testing, with genome-wide significance typica
Externí odkaz:
https://doaj.org/article/10ad2fde3b5a407a9bfbc7075b6d294e