Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Andreas Rump"'
Autor:
Tao Sun, Vanessa Lopez-Pajares, Andreas Rump, Shiying Tao, Paul A. Khavari, Brian J. Zarnegar, Chenjian Li, Nataliya DiDonato, Xue Yang, Vafa Bayat, Zurab Siprashvili, Bingwei Lu, Yang Zhao
Publikováno v:
Hum Mol Genet
Missense mutations in the RNA exosome component exosome component 2 (EXOSC2), also known as ribosomal RNA-processing protein 4 (RRP4), were recently identified in two unrelated families with a novel syndrome known as Short stature, Hearing loss, Reti
Autor:
Jun Fu, Sarah Tsurkan, Barbara Klink, Konstantinos Anastassiadis, Mandy Obst, A. Francis Stewart, Andrea Kranz, Evelin Schröck, Andreas Rump, Oliver Baker
Publikováno v:
Nucleic Acids Research
Designer nucleases like CRISPR/Cas9 enable fluent site-directed damage or small mutations in many genomes. Strategies for their use to achieve more complex tasks like regional exchanges for gene humanization or the establishment of conditional allele
Autor:
Atakan Aydin, Sigrid Tinschert, Sigmar Stricker, Sylvia Bähring, Lisanne Schulze, Konrad Platzer, Friedrich C. Luft, Philipp G. Maass, Andreas Rump, Herbert Schulz, Mary B. Goldring
Publikováno v:
Journal of Clinical Investigation. 122:3990-4002
Translocations are chromosomal rearrangements that are frequently associated with a variety of disease states and developmental disorders. We identified 2 families with brachydactyly type E (BDE) resulting from different translocations affecting chro
Autor:
Tjitske Kleefstra, Katherine G. Keating, Marie Shaw, Lisenka E.L.M. Vissers, Sascha Vermeer, Jane Juusola, Barbara K. Burton, Margaret H. Harr, Hanka Venselaar, Kevin A. Strauss, Angela Myers, Antonie D. Kline, Karlla W. Brigatti, Koen L.I. van Gassen, Wendy K. Chung, E. Smeets, Willemijn M. Wissink-Lindhout, Usha Kini, Katrina Tatton-Brown, Alexander Hoischen, Amy S. Kimball, C Jensen, Hilde Van Esch, Christian Gilissen, Maaike Vreeburg, Patrick Reed, Perciliz L. Tan, M Bienek, Diana Baralle, Julie McLaughlin, Joyce Fox, Stefan A. Haas, Nicholas Katsanis, Tom S. Koemans, Jolanda H. Schieving, Janneke H M Schuurs-Hoeijmakers, Jennifer Norman, Vera M. Kalscheuer, Sally Ann Lynch, Sarju G. Mehta, Anke Van Dijck, Megan T. Cho, Alison Male, Erik C. Madsen, Katrina Haude, Marvin R. Natowicz, Pradeep Vasudevan, Jacques C. Giltay, Kyle Retterer, Alison Ross, Kristin Lindstrom, Han G. Brunner, Katherine H. Kim, Michael Parker, A. Micheil Innes, Bart Loeys, R. Frank Kooy, Joel Charrow, Kristin G. Monaghan, Eric Haan, Michael C. Kruer, Margot R.F. Reijnders, Andreas Rump, Rolph Pfundt, Lot Snijders Blok, Quinn Stein, Jozef Gecz, Audrey Foster-Barber, Elaine H. Zackai, Karin Oberndorff, Kees E. P. van Roozendaal, Alan Fryer, Ruth Newbury-Ecob, Nataliya Di Donato, Kate Chandler, Alex Henderson, Céline Helsmoortel, Igor Pediaditakis, Bregje W.M. van Bon, Eden Haverfield, Corrado Romano, Sybe Dijkstra, Evan E. Eichler, Connie T.R.M. Stumpel, Hilary Racher
Publikováno v:
The American journal of human genetics
American Journal of Human Genetics, 97, 2, pp. 343-52
American Journal of Human Genetics, 97(2), 343. Cell Press
American Journal of Human Genetics, 97(2), 343-352. Cell Press
Europe PubMed Central
The American Journal of Human Genetics
American Journal of Human Genetics, 97, 343-52
American Journal of Human Genetics, 97(2), 343-352. CELL PRESS
American journal of human genetics, vol 97, iss 2
American Journal of Human Genetics, 97, 2, pp. 343-52
American Journal of Human Genetics, 97(2), 343. Cell Press
American Journal of Human Genetics, 97(2), 343-352. Cell Press
Europe PubMed Central
The American Journal of Human Genetics
American Journal of Human Genetics, 97, 343-52
American Journal of Human Genetics, 97(2), 343-352. CELL PRESS
American journal of human genetics, vol 97, iss 2
Contains fulltext : 153453.pdf (Publisher’s version ) (Open Access) Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chrom
Autor:
Ines Müller, Andreas Rump, Reinald Fundele, Dominique Meunier, Hans-Hilger Ropers, Ulrike A. Nuber, Alexander Herr
Publikováno v:
Developmental Dynamics. 226:579-586
TBX22 belongs to the T-box family of transcription factors and was originally found in an in silico approach designed to identify new genes on the human Xq12-q21 region. Mutations in TBX22 have been reported in families with X-linked cleft palate and
Autor:
Eike Staub, Melissa Rieder, Uta Schwidetzky, Grit Kasper, Edgar Dahl, Bernd Hinzmann, Andreas Rump, Detlev Mennerich, André Rosenthal, Stefan Taudien
Publikováno v:
Gene. 295:27-32
Encephalopsin, also called Panopsin, is a recently discovered extraretinal photoreceptor, which may play a role in non-visual photic processes such as the entrainment of circadian rhythm or the regulation of pineal melatonin production. Based on RT-P
Publikováno v:
Biochemical and Biophysical Research Communications. 289:1287-1294
The recently discovered epithelial calcium channels ECaC1 and ECaC2 are thought to play an important role in active calcium absorption in the intestine and kidney. Vitamin D-responsive elements (VDRE) were detected in the promoter sequence of human E
Publikováno v:
Journal of Cerebral Blood Flow & Metabolism. 16:1362-1365
Postischemic delayed neuronal death (DND) in CA1 of the gerbil hippocampus is thought to be caused by an abnormal increase of Ca2+ influx into the cell, mediated by excessive activation of glutamate receptors. One subtype of glutamate receptors, the
Autor:
Sigrid Tinschert, Andreas Rump, Miguel Otero, Sigmar Stricker, Philipp G. Maass, J. Wirth, Kaneyuki Tsuchimochi, Sylvia Bähring, Atakan Aydin, Friedrich C. Luft, Mary B. Goldring
Publikováno v:
Human Molecular Genetics 19 (2010) 5
Human Molecular Genetics, 19(5), 848-860
Human Molecular Genetics, 19(5), 848-860
Parathyroid hormone-like hormone (PTHLH) is an important chondrogenic regulator; however, the gene has not been directly linked to human disease. We studied a family with autosomal-dominant Brachydactyly Type E (BDE) and identified a t(8;12)(q13;p11.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33f65c81618e5410738ac5a84ab867b4
https://research.wur.nl/en/publications/a-cis-regulatory-site-downregulates-pthlh-in-translocation-t812q1
https://research.wur.nl/en/publications/a-cis-regulatory-site-downregulates-pthlh-in-translocation-t812q1
Autor:
Mirna Mustapha, Pete Glenister, Aziz El-Amraoui, Gonzalo Blanco, Steve D.M. Brown, Christine Petit, Jo Clay, Ralph H. Holme, Anabel Varela, Nicholas J. Parkinson, Roney S. Coimbra, Isabelle Perfettini, Michael J. Rogers, Dominique Weil, Ann-Marie Mallon, Karen P. Steel, Rachel E. Hardisty, André Rosenthal, Philomena Mburu, Lee Moir, Adam J.W. Paige, Stéphane Blanchard, Andreas Rump, Xue Zhong Liu
Publikováno v:
Nature Genetics
Nature Genetics, 2003, 34, pp.421-428. ⟨10.1038/ng1208⟩
Nature Genetics, 2003, 34, pp.421-428. ⟨10.1038/ng1208⟩
International audience; The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in the organ of Corti of the inner ear indicates that the whirler gene encodes a protein involved in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10d84141ed25a387b291f62100580ae
https://hal-pasteur.archives-ouvertes.fr/pasteur-03926895
https://hal-pasteur.archives-ouvertes.fr/pasteur-03926895