Search Results - "Kuss, A W"

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly by Darvish, H, Esmaeeli-Nieh, S, Monajemi, G B, Mohseni, M, Ghasemi-Firouzabadi, S, Abedini, S S, Bahman, I, Jamali, P, Azimi, S, Mojahedi, F, Dehghan, A, Shafeghati, Y, Jankhah, A, Falah, M, Soltani Banavandi, M J, Ghani, M, Ghani-Kakhi, M, Garshasbi, M, Rakhshani, F, Naghavi, A, Tzschach, A, Neitzel, H, Ropers, H H, Kuss, A W, Behjati, F, Kahrizi, K, Najmabadi, H

“…Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Affected individuals present with head…”
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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome by Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T.

“…Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features…”
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Polymorphic AP-1 binding site in bovine CSN1S1 shows quantitative differences in protein binding associated with milk protein expression by Kuss, A W, Gogol, J, Bartenschlager, H, Geldermann, H

“…Polymorphisms in 5'-flanking regions of milk protein encoding genes can influence the binding activity of the affected response elements and thus have an…”
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Associations of a polymorphic AP-2 binding site in the 5'-flanking region of the bovine beta-lactoglobulin gene with milk proteins by Kuss, A W, Gogol, J, Geidermann, H

“…Studies on a polymorphic position (R10) in an Activator-Protein-2 (AP-2) binding site of the bovine beta-Lactoglobulin (beta-Lg) gene promoter region and…”
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Comparison of Vietnamese and European pig breeds using microsatellites by Thuy, N.T.D, Melchinger-Wild, E, Kuss, A.W, Cuong, N.V, Bartenschlager, H, Geldermann, H

“…This study characterized autochthonous pig breeds of Vietnam and compared them with breeds from other regions. A total of 343 animals were considered from 5…”
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Generation of two isogenic iPSC lines from a healthy male donor of European ancestry by Edwards, S., Hagenau, L., Nowack, B., Rhode, J., Hossain, M.F., Tzvetkova, A., Jensen, L.R., Kuss, A.W.

“…We have created two isogenic iPSC lines from fibroblasts of a healthy male donor of European ancestry. The cell lines express common pluripotency markers, are…”
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Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients by Tzschach, A., Bozorgmehr, B., Hadavi, V., Kahrizi, K., Garshasbi, M., Motazacker, M.M., Ropers, H.-H., Kuss, A.W., Najmabadi, H.

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Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying biallelic truncating mutations at the 3'-end of SRCAP using CRISPR/Cas9 by Rhode, J, Hagenau, L, Beimdiek, J, Ullmann, R, Hossain, F, Tzvetkova, A, Jensen, L R, Kuss, A W

“…Non-Floating Harbour Syndrome (FLHS) neurodevelopmental disorder (NDD) is a recently described disorder caused by mutations in certain regions of the SRCAP…”
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Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444) by Franz, M., Hagenau, L., Koch, R., Neubauer, S., Nowack, B., Tzvetkova, A., Jensen, L.R., Kuss, A.W.

“…Floating-Harbor syndrome (FLHS) is a rare genetic disease caused by mutations in the SRCAP gene. Here, we generated an induced pluripotent stem cell line from…”
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Comparison of Vietnamese and European pig breeds using microsatellites1 by Thuy, N. T. D., Melchinger-Wild, E., Kuss, A. W., Cuong, N. V., Bartenschlager, H., Geldermann, H.

“…This study characterized autochthonous pig breeds of Vietnam and compared them with breeds from other regions. A total of 343 animals were considered from 5…”
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Nine porcine microsatellite loci tested for size homoplasy in genetically diverse breeds by Peischl, T., Kuss, A. W., Melchinger-Wild, E., Geldermann, H.

“…Summary Kind and probability of homoplasy across allelic microsatellite fragments can be investigated using DNA of genetically diverse pig breeds. In this…”
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Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices by Schneider, E, Mayer, S, El Hajj, N, Jensen, L R, Kuss, A W, Zischler, H, Kondova, I, Bontrop, R E, Navarro, B, Fuchs, E, Zechner, U, Haaf, T

“…The autism susceptibility locus on human chromosome 7q32 contains the maternally imprinted MEST and the non-imprinted COPG2 and TSGA14 genes. Autism is a…”
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Analysis of polymorphic PRNP microsatellite and ORF sites in German sheep breeds by Preuss, S., Kuss, A. W., He, H., Bartenschlager, H., Geldermann, H.

“…Summary Polymorphic microsatellite and open‐reading frame (ORF) sites in the prion protein coding gene (PRNP) were analysed in eight sheep breeds. The three…”
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A high density of human communication-associated genes in chromosome 7q31-q36: differential expression in human and non-human primate cortices by Schneider, E, Jensen, L R, Farcas, R, Kondova, I, Bontrop, R E, Navarro, B, Fuchs, E, Kuss, A W, Haaf, T

“…The human brain is distinguished by its remarkable size, high energy consumption, and cognitive abilities compared to all other mammals and non-human primates…”
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Mitochondria-Dependent Caspase-9 Activation Is Necessary for Antigen Receptor-Mediated Effector Caspase Activation and Apoptosis in WEHI 231 Lymphoma Cells by Herold, Marco J, Kuss, Andreas W, Kraus, Christa, Berberich, Ingolf

“…Engagement of the B cell Ag receptor (BCR) on immature B cells leads to growth arrest followed by apoptosis. Concomitant signaling through CD40 sustains…”
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A1 expression is stimulated by CD40 in B cells and rescues WEHI 231 cells from anti‐IgM‐induced cell death by Kuss, Andreas W., Knödel, Matthias, Berberich‐Siebelt, Friederike, Lindemann, Dirk, Schimpl, Anneliese, Berberich, Ingolf

“…Engagement of the antigen receptor on murine immature B cells leads to growth arrest followed by apoptosis. Concomitant signaling through CD40 sustains…”
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Blimp‐1 over‐expression abrogates IL‐4‐ and CD40‐mediated suppression of terminal B cell differentiation but arrests isotype switching by Knödel, Matthias, Kuss, Andreas W., Berberich, Ingolf, Schimpl, Anneliese

“…Following stimulation, primary B cells either directly undergo terminal differentiation to IgM‐secreting plasma cells or enter the memory pathway characterized…”
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Reversal of Blimp‐1‐mediated apoptosis by A1, a member of the Bcl‐2 family by Knödel, Matthias, Kuss, Andreas W., Lindemann, Dirk, Berberich, Ingolf, Schimpl, Anneliese

“…Blimp‐1 (B lymphocyte‐induced maturation protein 1) is strongly expressed during the late stages of B cell differentiation to immunoglobulin‐secreting plasma…”
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A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation by Garshasbi, Masoud, Hadavi, Valeh, Habibi, Haleh, Kahrizi, Kimia, Kariminejad, Roxana, Behjati, Farkhondeh, Tzschach, Andreas, Najmabadi, Hossein, Ropers, Hans Hilger, Kuss, Andreas Walter

“…Recent studies have shown that autosomal recessive mental retardation (ARMR) is extremely heterogeneous, and there is reason to believe that the number of…”
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Das methodische Potenzial der neuen Sequenziertechnologien jenseits der Mutationssuche by Kuss, A.W.

“…Zusammenfassung In diesem Beitrag wird eine Reihe wichtiger Anwendungen der neuen Sequenziertechnologien bzw. des Next Generation Sequencing (NGS) vorgestellt…”
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