Zobrazeno 1 - 10
of 484
pro vyhledávání: '"alacrima"'
Autor:
Daphne J. Smits, Jordy Dekker, Hannie Douben, Rachel Schot, Helen Magee, Somayeh Bakhtiari, Katrin Koehler, Angela Huebner, Markus Schuelke, Hossein Darvish, Shohreh Vosoogh, Abbas Tafakhori, Melika Jameie, Ehsan Taghiabadi, Yana Wilson, Margit Shah, Marjon A. van Slegtenhorst, Evita G. Medici-van den Herik, Tjakko J. van Ham, Michael C. Kruer, Grazia M.S. Mancini
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100327- (2024)
Summary: Nuclear pore complexes (NPCs) regulate nucleocytoplasmic transport and are anchored in the nuclear envelope by the transmembrane nucleoporin NDC1. NDC1 is essential for post-mitotic NPC assembly and the recruitment of ALADIN to the nuclear e
Externí odkaz:
https://doaj.org/article/9f3b1b2ba0654a18ab9998275e27df6d
Autor:
Maja Cehic, Katarina Mitrovic, Rade Vukovic, Tatjana Milenkovic, Gordana Kovacevic, Sladjana Todorovic, Sanja Panic Zaric, Dimitrije Cvetkovic, Aleksandra Paripovic, Angela Huebner, Katrin Koehler, Friederike Quitter
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Triple A syndrome (TAS), also known as Allgrove syndrome (OMIM#231550), is a rare, autosomal recessive disorder characterized by the triad of alacrima, achalasia, and adrenal insufficiency. Additional neurological features may be present in two-third
Externí odkaz:
https://doaj.org/article/bb5d32184dc240489253af21a6e7605a
Akademický článek
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Akademický článek
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Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)
Abstract Introduction Triple A syndrome is a very uncommon disease marked by a triad of adrenocorticotrophic hormone (ACTH)—resistant features: adrenal insufficiency, alacrimia, and achalasia. It presents in several clinical forms with undetermined
Externí odkaz:
https://doaj.org/article/ba14dc8c03014965a129f121aa8c314b
Publikováno v:
Heliyon, Vol 8, Iss 12, Pp e11766- (2022)
The present study was performed on a 24-year-old Iranian man referred to Hospital with suspected symptoms of COVID-19, including fever, weakness, and cough. According to medical history, he had Alacrima, esophageal Achalasia, and adrenal insufficienc
Externí odkaz:
https://doaj.org/article/68cd323bfc4b47cab2df85b431af4f3e
Autor:
Erica L. Macke, Joel A. Morales‐Rosado, Sarah K. Macklin‐Mantia, Christopher T. Schmitz, Björn Oskarsson, Eric W. Klee, Klaas J. Wierenga
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Background Achalasia‐addisonianism‐alacrima syndrome, frequently referred to as Allgrove syndrome or Triple A syndrome, is a multisystem disorder resulting from homozygous or compound heterozygous pathogenic variants in the gene encoding
Externí odkaz:
https://doaj.org/article/df4c2837aabc49f0ad116b97a6d2a9ba
Publikováno v:
TNOA Journal of Ophthalmic Science and Research, Vol 59, Iss 3, Pp 283-285 (2021)
Allgrove's syndrome is a rare genetic disorder characterized by alacrima, achalasia, and addisonism (AAA syndrome). The rarity of the disease and the requirement of genetic analysis to confirm the disease cause diagnostic issues. The variable nature
Externí odkaz:
https://doaj.org/article/38678c262f4d4e278d032ca7893e9942
Publikováno v:
Pediatric Health, Medicine and Therapeutics, Vol Volume 10, Pp 99-106 (2019)
Myrto Eleni Flokas, Michael Tomani, Levon Agdere, Brande BrownDepartment of Pediatrics, NewYork-Presbyterian Brooklyn Methodist Hospital, Brooklyn, NY, USACorrespondence: Brande BrownDepartment of Pediatrics, NewYork-Presbyterian Brooklyn Methodist H
Externí odkaz:
https://doaj.org/article/5619259f4ecd45d1a67d91e1c6a1d851
Publikováno v:
Clinical Ophthalmology, Vol Volume 12, Pp 2591-2595 (2018)
Shigeharu Yaginuma,1 Yoko Akune,2 Chika Shigeyasu,1,2 Yoji Takano,3 Masakazu Yamada1 1Department of Ophthalmology, Kyorin University School of Medicine, Tokyo 181-8611, Japan; 2Division for Vision Research, National Institute of Sensory Organs, Natio
Externí odkaz:
https://doaj.org/article/fae3917499ef41c6b75642c8de623fa7