Zobrazeno 1 - 10
of 209
pro vyhledávání: '"BHD, Birt–Hogg–Dubé"'
Autor:
Bandini, Erika1 (AUTHOR) erika.bandini@irst.emr.it, Zampiga, Valentina1 (AUTHOR) ilaria.cangini@irst.emr.it, Cangini, Ilaria1 (AUTHOR) tania.rossi@irst.emr.it, Ravegnani, Mila2 (AUTHOR) mila.ravegnani@irst.emr.it, Arcangeli, Valentina2 (AUTHOR) valentina.arcangeli@irst.emr.it, Rossi, Tania1 (AUTHOR) daniele.calistri@irst.emr.it, Mammi, Isabella3 (AUTHOR) isabella.mammi@iov.veneto.it, Schiavi, Francesca3 (AUTHOR) francesca.schiavi@iov.veneto.it, Zovato, Stefania3 (AUTHOR) stefania.zovato@iov.veneto.it, Falcini, Fabio2 (AUTHOR) fabio.falcini@irst.emr.it, Calistri, Daniele1 (AUTHOR), Danesi, Rita2 (AUTHOR) rita.danesi@irst.emr.it
Publikováno v:
International Journal of Molecular Sciences. Aug2023, Vol. 24 Issue 15, p12418. 7p.
Autor:
Konstantinou, Eleni K.1,2 (AUTHOR), Shaikh, Noreen1,3 (AUTHOR), Ramsey, David J.1,2 (AUTHOR) David.J.Ramsey@lahey.org
Publikováno v:
Ophthalmic Genetics. Apr2023, Vol. 44 Issue 2, p175-181. 7p.
Publikováno v:
The Journal of Biological Chemistry
Birt-Hogg-Dubé (BHD) syndrome is a multiorgan disorder caused by inactivation of the folliculin (FLCN) protein. Previously, we identified FLCN as a binding protein of Rab11A, a key regulator of the endocytic recycling pathway. This finding implies t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34690bccc7c80fc336ddab9214444578
https://doi.org/10.1016/j.jbc.2021.100426
https://doi.org/10.1016/j.jbc.2021.100426
Publikováno v:
JAAD Case Reports
Birt-Hogg-Dube syndrome (BHD) is an uncommon autosomal dominant genodermatosis characterized by fibrofolliculomas and trichodiscomas on the face and neck with acrochordons in flexural areas. These skin signs serve as markers for internal disease, mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72ed1c318637c188def7776fb1c4e358
Autor:
Hu, Daiju1 (AUTHOR), Wang, Rui1,2 (AUTHOR), Liu, Jinli3 (AUTHOR), Chen, Xianmeng1,4 (AUTHOR), Jiang, Xianliang5 (AUTHOR), Xiao, Jun6 (AUTHOR), Ryu, Jay H.7 (AUTHOR), Hu, Xiaowen1,4 (AUTHOR) hu.xiaowen@ustc.edu.cn
Publikováno v:
Orphanet Journal of Rare Diseases. 9/19/2024, Vol. 19 Issue 1, p1-9. 9p.
Akademický článek
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Autor:
Raoof, Suhail1 suhailraoof@gmail.com, Bondalapati, Praveen2, Vydyula, Ravikanth3, Ryu, Jay H.4, Gupta, Nishant5, Raoof, Sabiha6, Galvin, Jeff7, Rosen, Mark J.8, Lynch, David9, Travis, William10, Mehta, Sanjeev11, Lazzaro, Richard12, Naidich, David13
Publikováno v:
CHEST. Oct2016, Vol. 150 Issue 4, p945-965. 21p.
Autor:
Kawachi, Riken1 (AUTHOR), Nakatani, Yukio2 (AUTHOR) ynak2012@gmail.com, Furuya, Mitsuko3 (AUTHOR), Nakamura, Naoya4 (AUTHOR), Kondo, Yusuke4 (AUTHOR), Nagashima, Yoji5 (AUTHOR), Nakayama, Tomohiro6 (AUTHOR), Okada, Masahiro7 (AUTHOR), Sakurai, Hiroyuki1 (AUTHOR), Masuda, Shinobu8 (AUTHOR)
Publikováno v:
Pathology International. Dec2023, Vol. 73 Issue 12, p601-608. 8p.
Akademický článek
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Autor:
Homayounieh, Fatemeh, Gopal, Nikhil, Firouzabadi, Fatemeh Dehghani, Sahbaee, Pooyan, Yazdian, Pouria, Nikpanah, Moozhan, Do, Michael, Muyang Wang, Gautam, Rabindra, Ball, Mark W., Pritchard, William F., Jones, Elizabeth C., Han Wen, Linehan, W. Marston, Turkbey, Evrim B., Malayeri, Ashkan A.
Publikováno v:
Investigative Radiology; Nov2024, Vol. 59 Issue 11, p774-781, 8p