Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Sören Bäumner"'
Autor:
Sören Bäumner, Lutz T. Weber
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body.
Externí odkaz:
https://doaj.org/article/acccc5b39bb04a9a809111338365731c
Autor:
Philipp Herrmann, Hanno J. Bolz, Mareike Dahmer-Heath, Peter Charbel Issa, Georg Spital, Johannes Birtel, Sandra Habbig, Bodo B. Beck, Marius Book, Jens König, Vera Riehmer, David Rosenkranz, Sören Bäumner
Publikováno v:
Kidney international. 100(5)
Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cause of hereditary end-stage kidney disease. Nephrocystin 1, the gene product of NPHP1, is also expressed in photorecep
Autor:
Lutz T. Weber, Sören Bäumner
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 6 (2018)
Frontiers in Pediatrics, Vol 6 (2018)
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body.
Autor:
Lutz T. Weber, Sören Bäumner
Publikováno v:
Pediatric nephrology (Berlin, Germany). 32(7)
Autor:
Rita Gerardy-Schahn, Axel Wehrend, Martina Mühlenhoff, Peter Simon, René C Röhrich, Rudolf Geyer, Hildegard Geyer, Sebastian P. Galuska, Sören Bäumner, Miriam Kaese, Ralf Middendorff, Oliver Busch, Karin Müller, Peter Richterich
Publikováno v:
Journal of Biological Chemistry. 288:18825-18833
Fertilization in animals is a complex sequence of several biochemical events beginning with the insemination into the female reproductive tract and, finally, leading to embryogenesis. Studies by Kitajima and co-workers (Miyata, S., Sato, C., and Kita