Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Susanne Freier"'
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
Autor:
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 2, Pp n/a-n/a (2023)
Abstract Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non‐coding regions, which make up 98% of the genome, cannot be captured. The lack of functional ann
Externí odkaz:
https://doaj.org/article/921d307af59a483894117f4547a0983f
Autor:
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Poh Hui Chia, Ricardo Moreno Traspas, Nathalie Escande-Beillard, Carine Bonnard, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova, Wesam Soror, Alaa Arafat, Mohammad Shboul, Andreas Mayer, Bruno Reversade
Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non-coding regions, which make up 98% of the genome, cannot be captured. The lack of functional annotation for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6e27350a757dbaae6b7f30d93ad9ccb
https://doi.org/10.1101/2022.07.15.22276800
https://doi.org/10.1101/2022.07.15.22276800
Autor:
Andreas Mayer, Olga Jasnovidova, Martyna Gajos, Susanne Freier, Martin Vingron, Alena van Bömmel
Publikováno v:
Nucleic Acids Research
Nucleic Acids Research (London)
Nucleic Acids Research (London)
Pausing of transcribing RNA polymerase is regulated and creates opportunities to control gene expression. Research in metazoans has so far mainly focused on RNA polymerase II (Pol II) promoter-proximal pausing leaving the pervasive nature of pausing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7476608fd1fb172073eaa48f50dfeab2
https://doi.org/10.1093/nar/gkab208
https://doi.org/10.1093/nar/gkab208
Autor:
Wolfgang Berger, Christina Zeitz, Silke Feil, Susann Schweiger, Harry Scherthan, Vanessa Suckow, Susanne Freier
PURPOSE. The complete type of X-linked congenital stationary night blindness (CSNB1) in human and mouse is caused by mutations in the NYX gene. The human NYX protein has been predicted to contain an N-terminal endoplasmic reticulum (ER) signaling seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59b16930e34708a035c04fc64c2afc0
Autor:
Elke, Raderschall, Karen, Stout, Susanne, Freier, Vanessa, Suckow, Susann, Schweiger, Thomas, Haaf
Publikováno v:
Cancer research. 62(1)
Rad51 is the key enzyme for homologous recombination, an evolutionarily conserved mechanism for the repair of DNA damage and the generation of genetic diversity. Given the observation that many tumors become resistant to radiation therapy and DNA-dam