Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Ricardo Moreno Traspas"'
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:
Teruki Dainichi, Yuri Nakano, Hiromi Doi, Satoshi Nakamizo, Saeko Nakajima, Reiko Matsumoto, Thomas Farkas, Pui Mun Wong, Vipin Narang, Ricardo Moreno Traspas, Eiryo Kawakami, Emma Guttman-Yassky, Oliver Dreesen, Thomas Litman, Bruno Reversade, Kenji Kabashima
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The epidermis, outermost layer of the skin, forms a barrier and is involved in innate and adaptive immunity in an organism. Keratinocytes participate in all these three protective processes. However, a regulator of keratinocyte protective responses a
Externí odkaz:
https://doaj.org/article/edd5f834c33541978485b78d10437417
Autor:
Fanny Ehret, Ricardo Moreno Traspas, Marie-Theres Neumuth, Bianca Hamann, Daniela Lasse, Gerd Kempermann
Publikováno v:
Frontiers in Aging Neuroscience, Vol 13 (2021)
We and others have reported that Notch3 is a regulator of adult hippocampal neurogenesis. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), the most common genetic form of vascular dementia, is caus
Externí odkaz:
https://doaj.org/article/d04852e6df2644e69bb1fc683f89c7d7
Autor:
Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
Publikováno v:
Nature genetics. Nature Publishing Group
Cirrhosis is usually a late-onset and life-threatening disease characterized by fibrotic scarring and inflammation that disrupts liver architecture and function. While it is typically the result of alcoholism or hepatitis viral infection in adults, i
Autor:
Kenji Kabashima, Bruno Reversade, Thomas Litman, Oliver Dreesen, Emma Guttman-Yassky, Eiryo Kawakami, Ricardo Moreno Traspas, Vipin Narang, Pui Mun Wong, Thomas Farkas, Saeko NAKAJIMA, Satoshi Nakamizo, Hiromi Doi, Yuri Nakano, Teruki Dainichi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1661306ee98960a157a36cb0439e8ad
https://doi.org/10.26226/m.62fa0094a32203001a2f3e4a
https://doi.org/10.26226/m.62fa0094a32203001a2f3e4a
Autor:
Cassandra R. Harapas, Kim S. Robinson, Kenneth Lay, Jasmine Wong, Ricardo Moreno Traspas, Nasrin Nabavizadeh, Annick Rass-Rothschild, Bertrand Boisson, Scott B. Drutman, Pawat Laohamonthonkul, Devon Bonner, Jingwei Rachel Xiong, Mark D. Gorrell, Sophia Davidson, Chien-Hsiung Yu, Mark D. Fleming, Jonas Gudera, Jerry Stein, Miriam Ben-Harosh, Emily Groopman, Akiko Shimamura, Hannah Tamary, Hülya Kayserili, Nevin Hatipoğlu, Jean-Laurent Casanova, Jonathan A. Bernstein, Franklin L. Zhong, Seth L. Masters, Bruno Reversade
Publikováno v:
Sci Immunol
Dipeptidyl peptidase 9 (DPP9) is a direct inhibitor of NLRP1, but how it affects inflammasome regulation in vivo is not yet established. Here, we report three families with immune-associated defects, poor growth, pancytopenia, and skin pigmentation a
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:
Gerd Kempermann, Marie-Theres Neumuth, Ricardo Moreno Traspas, Bianca Hamann, Fanny Ehret, Daniela Lasse
Publikováno v:
Frontiers in Aging Neuroscience
Frontiers in aging neuroscience 13, 617733 (2021). doi:10.3389/fnagi.2021.617733
Frontiers in Aging Neuroscience, Vol 13 (2021)
Frontiers in aging neuroscience 13, 617733 (2021). doi:10.3389/fnagi.2021.617733
Frontiers in Aging Neuroscience, Vol 13 (2021)
We and others have reported that Notch3 is a regulator of adult hippocampal neurogenesis. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), the most common genetic form of vascular dementia, is caus
Autor:
Hamdi Mbarek, Afaf Alsubhi, Ricardo Moreno Traspas, Nima Rezaei, Chao L, Lena Ho, Fatima Megala Nathan, Peter Bauer, Sze Hwee Seet, Sebastian Maurer-Stroh, Teoh Ts, Davut Pehlivan, Myriam Chaabouni, Jean-Laurent Casanova, Aida M. Bertoli-Avella, Danai Georgiadou, Simin Seyedpour, Robert J. Isfort, Shan Z, Ece Cepni, Wafaa Eyaid, Kortessa Sotiropoulou, Bruno Reversade, Chun Kiat Lee, Candice Lainé, Michael Maier, Wong Hh, Guoliang Chai, Ajay S. Mathuru, Danielle Sng, Hülya Kayserili, Fernanda L. Sirota, Choo Sc, Lupski, Tadahiro M, Nur Ain Ali, Ghamar Taj Khotaei, Franziska Paul, Frederic Bard, Xue S, Charles C. Bascom, Sedat Işıkay, Maha S. Zaki, Joseph G. Gleeson, Chia Cy, Bertrand Boisson, Loh Ayt
Human C2orf69 is an evolutionary-conserved gene whose function is unknown. Here, we report 9 children from 5 unrelated families with a fatal syndrome consisting of severe auto-inflammation, progredient leukoencephalopathy with recurrent seizures that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64314110460941cfed915d10fbc86f96
https://doi.org/10.1101/2021.03.31.21253863
https://doi.org/10.1101/2021.03.31.21253863
Autor:
Fatma Gumruk, Guoliang Chai, Bertrand Boisson, Natalia Ordonez, Ricardo Moreno Traspas, Maha S. Zaki, Stephanie Efthymiou, Dana Hasbini, Sze Hwee Seet, Thanh Thao Nguyen Ly, Jean-Laurent Casanova, Tadahiro Mitani, Michael Maier, Danielle Sng, Pelin Ozlem Simsek-Kiper, Davut Pehlivan, Hülya Kayserili, James R. Lupski, Nese Yarali, Kornelia Tripolszki, Abigail Loh, Hui Hui Wong, Robert J. Isfort, Joshua J. Coon, Sedat Işıkay, Frederic Bard, Ece Cepni, Evgenia Shishkova, Charles C. Bascom, Chao Liang, Afaf Alsubhi, Bruno Reversade, Nurten A. Akarsu, Tze Shin Teoh, Jarred W. Rensvold, Nima Rezaei, Soh Sok Keng, David J. Pagliarini, Serdar Ceylaner, Naser Gilani, Lena Ho, Fatima Megala Nathan, Siew Chin Choo, Hamdi Mbarek, Crystal Y. Chia, Wafaa Eyaid, Ozlem Arman-Bilir, Reza Maroofian, Simin Seyedpour, Kortessa Sotiropoulou, Joseph G. Gleeson, Peter Bauer, Arda Cetinkaya, Beril Talim, Fernanda L. Sirota, Sule Unal, Ghamar Taj Khotaei, Sebastian Maurer-Stroh, Franziska Paul, Shan Zhang, Elanur Yılmaz, Ayse Gurel, Shifeng Xue, Henry Houlden, Ajay S. Mathuru, Myriam Chaabouni, Aida M. Bertoli-Avella, Candice Lainé, Cheryl Yi-Pin Lee, Danai Georgiadou, Nur Ain Ali, Deniz Uğurlu Çi̇men
Publikováno v:
American journal of human genetics, 108(7), 1301-1317. Cell Press
Am J Hum Genet
Am J Hum Genet
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we report eight unrelated families from which 20 children presented with a fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy wit