Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Gabi Mücher"'
Autor:
R. Schumacher, Klaus Zerres, Sabine Rudnik-Schöneborn, H. Müntefering, P. Shahidi‐Asl, Gabi Mücher, B. Wellek, Nicolai Kohlschmidt, Christian Hallermann, Franz Bahlmann, U. Theile
Publikováno v:
American Journal of Medical Genetics. 90:115-119
We report on two sibs, both males, one born at 37 the other at 24 weeks of gestation, both with a syndrome similar to that seen in three sets of sibs by Gillessen-Kaesbach et al. [1993: Am J Med Genet 45:511–518]. Both propositi had polycystic kidn
Publikováno v:
Journal of Molecular Medicine. 76:303-309
Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood, although the spectrum of ARPKD is much more variable than generally known. Presentation of ARPKD at later
Autor:
Luiz F. Onuchic, Michael Knapp, Stefan Somlo, Klaus Zerres, G. G. Germino, Jutta Becker, Lisa M. Guay-Woodford, Markus Moser, Gabi Mücher, Reinhard Büttner, Sabine Rudnik-Schöneborn, Ellis D. Avner
Publikováno v:
Genomics. 48:40-45
A total of 33 polymorphic markers were analyzed to generate a high-resolution genetic linkage map of the locus PKHD1 (polycystic kidney and hepatic disease 1) for the autosomal recessive polycystic kidney disease (ARPKD), using a combination of recom
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen
Autor:
H Kääriäinen, Klaus Zerres, T. Lennert, Hph. Neumann, Yves Pirson, Sabine Rudnik-Schöneborn, Brunhilde Wirth, L. Bachner, Joachim Misselwitz, T. Eggermann, V. Steinbicker, Michael Knapp, Karl Schärer, Gabi Mücher, Ke. Vonmuhlendahl, G. Deschennes
Publikováno v:
Nature Genetics. 7:429-432
Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presenting in early childhood. The clinical picture is variable but there is a fatal outcome in many cases. We have performed
Publikováno v:
Human Heredity. 46:298-300
Meprins are membrane-bound oligomeric metalloendopeptidases belonging to the astacin protein family. The meprin isolated from human small intestinal mucosa was originally known as N-benzoyl-L-tyrosyl-p-aminobenzoic acid (PABA peptide) hydrolase (PPH)
Autor:
Reinhard Buettner, Jutta Becker, Christa Dixkens, Joachim Weis, Reinhard Fässler, Klaus Zerres, Armin Pscherer, Lisa M. Guay-Woodford, Markus Moser, Christina Roth, Gabi Mücher
Expression of AP-2 transcription factors has been detected previously in embryonic renal tissues. We show here thatAP-2β −/− mice complete embryonic development and die at postnatal days 1 and 2 because of polycystic kidney disease. Analyses of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d115bb852aa439a9477a7233458870c6
https://europepmc.org/articles/PMC316415/
https://europepmc.org/articles/PMC316415/
Autor:
Ellis D. Avner, Klaus Zerres, William E. Sweeny, John M. Stockwin, Lorenzo B. Santarina, Stefan Somlo, Gregory G. Germino, Toshio Mochizuki, Lisa M. Guay-Woodford, Martin Daoust, Tomohito Hayashi, Gabi Mücher, Xose M. Lens, Luiz F. Onuchic, Guanqing Wu, Jutta Becker
Publikováno v:
Genomics. 41(3)
Autosomal recessive polycystic kidney disease is one of the most common hereditary renal cystic diseases in children. Genetic studies have recently assigned the only known locus for this disorder, PKHD1, to chromosome 6p21-p12. We have generated a YA
Publikováno v:
Contributions to nephrology. 122
Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood, although the spectrum of ARPKD is much more variable than generally known. Presentation of ARPKD at later
Publikováno v:
Human Genetics. 93
Linkage analysis in 19 families with autosomal recessive polycystic kidney disease (ARPKD) has shown that ARPKD is not linked to the recently assigned second gene locus for autosomal dominant polycystic kidney disease (ADPKD) on chromosome 4q (PKD2).