Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Danielle Sng"'
Autor:
Aida M. Bertoli-Avella, Samah Al-Tawalbeh, Nadia Al-Hashmi, Melis Köse, Roberta Trunzo, Fahad Al Abbas, Hasan Tawamie, Vasiliki Karageorgou, Peter Bauer, Ana Westenberger, Ghaleb Elyamany, Omar Abu Adas Blanco, Fuad Al Mutairi, Bruno Reversade, Kornelia Tripolszki, Salem Alawbathani, Mariam Al-Hilali, Fadiah Al-Khattabi, Suliman Khan, André Mégarbané, Natalia Ordonez-Herrera, Mohammed Al-raqad, Danielle Sng, Amal Alhashem, Ruslan Al-Ali, Nashat Al Sukaiti, Homoud Al Hebby
Publikováno v:
Clinical genetics, 101(2), 247-254. Wiley-Blackwell
Biallelic changes in the ZNFX1 gene have been recently reported to cause severe familial immunodeficiency. Through a search of our bio/databank with information from genetic testing of >55 000 individuals, we identified nine additional patients from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a003e0795604c54d0e6cbc4601ab971e
https://hdl.handle.net/11454/77517
https://hdl.handle.net/11454/77517
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:
Shiying Xie, Chuanming Xu, Danielle Sng, Fei Wang, Bruno Reversade, Yanting Chen, Tianxin Yang
Publikováno v:
Am J Physiol Renal Physiol
American journal of physiology. Renal physiology, 318(5), F1122-F1135. American Physiological Society
American journal of physiology. Renal physiology, 318(5), F1122-F1135. American Physiological Society
Emerging evidence has demonstrated that (pro)renin receptor (PRR)-mediated activation of intrarenal renin-angiotensin system (RAS) plays an essential role in renal handling of Na+ and water balance and blood pressure. The present study tested the pos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3726131437bbb4b17fed2cfd8e1ded1d
https://europepmc.org/articles/PMC7294342/
https://europepmc.org/articles/PMC7294342/
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c13d560c7d64faf2e637e92da4ba67e3
https://doi.org/10.1016/j.ajhg.2021.06.009
https://doi.org/10.1016/j.ajhg.2021.06.009
Autor:
Bruno Reversade, Shiying Xie, Renfei Luo, Chuanming Xu, Tianxin Yang, Fei Wang, Yanting Chen, Danielle Sng
Publikováno v:
Hypertension. 72
Emerging evidence has demonstrated that (pro)renin receptor (PRR)-mediated activation of intrarenal renin-angiotensin system (RAS) plays an essential role in renal handling of Na + and water balance and blood pressure. The present study tested the po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02893e7ff42acc7bb764eeac067cdeaa
https://doi.org/10.1161/hyp.72.suppl_1.p111
https://doi.org/10.1161/hyp.72.suppl_1.p111
Autor:
Chuanming Xu, Fei Wang, Yanting Chen, Shiying Xie, Danielle Sng, Reversade, Bruno, Tianxin Yang
Publikováno v:
American Journal of Physiology: Renal Physiology; May2020, Vol. 318 Issue 5, pF1122-F1135, 14p
Publikováno v:
Mechanisms of Development. 145:S38
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd90991f447fc5c6e0046b28a939b26b
https://doi.org/10.1016/j.mod.2017.04.052
https://doi.org/10.1016/j.mod.2017.04.052