Zobrazeno 1 - 10
of 175
pro vyhledávání: '"Angela Huebner"'
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
Autor:
Katja K. Dumic, Claudine Heinrichs, Katrin Koehler, Angela Huebner, Miroslav Dumic, Vesna Kusec, Tina Dusek, Friederike Quitter
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
ObjectiveTriple A syndrome, caused by autosomal recessively inherited mutations in the AAAS gene is characterized by alacrima, achalasia, adrenal insufficiency, and neurological impairment. To the best of our knowledge, no patients of both sexes have
Externí odkaz:
https://doaj.org/article/d9af12447e8d498ba2e856103c2a23e2
Autor:
Shamini Ramkumar Thirumalasetty, Tina Schubert, Ronald Naumann, Ilka Reichardt, Marie-Luise Rohm, Dana Landgraf, Florian Gembardt, Mirko Peitzsch, Michaela F. Hartmann, Mihail Sarov, Stefan A. Wudy, Nicole Reisch, Angela Huebner, Katrin Koehler
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 10, p 5062 (2024)
Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder impairing cortisol synthesis due to reduced enzymatic activity. This leads to persistent adrenocortical overstimulation and the accumulation of precursors before the blocked enzy
Externí odkaz:
https://doaj.org/article/d53e98ed726046359880ca4c318162f7
Autor:
Heike Hoyer-Kuhn, Angela Huebner, Anette Richter-Unruh, Markus Bettendorf, Tilman Rohrer, Klaus Kapelari, Stefan Riedl, Klaus Mohnike, Helmuth-Günther Dörr, Friedrich-Wilhelm Roehl, Katharina Fink, Reinhard W Holl, Joachim Woelfle
Publikováno v:
Endocrine Connections, Vol 10, Iss 5, Pp 561-569 (2021)
Objective: Treatment of classic congenital adrenal hyperplasia (CAH) is necessary to compensate for glucocorticoid/mineralocorticoid deficiencies and to suppress androgen excess. Hydrocortisone (HC) is preferred in growing children with classic CAH b
Externí odkaz:
https://doaj.org/article/8df44d6c4b764632b81748064f355400
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Catecholamine-producing tumors of childhood include most notably neuroblastoma, but also pheochromocytoma and paraganglioma (PPGL). Diagnosis of the former depends largely on biopsy-dependent histopathology, but this is contraindicated in PPGL where
Externí odkaz:
https://doaj.org/article/86e8a7482cbd44789f8942869c033f36
Publikováno v:
Cell Division, Vol 13, Iss 1, Pp 1-14 (2018)
Abstract Background Membrane-associated progesterone receptors are restricted to the endoplasmic reticulum and are shown to regulate the activity of cytochrome P450 enzymes which are involved in steroidogenesis or drug detoxification. PGRMC1 and PGRM
Externí odkaz:
https://doaj.org/article/df49b427a9c64334af3de039761ab833
Autor:
Laura D. Scriba, Stefan R. Bornstein, Alice Santambrogio, Gregor Mueller, Angela Huebner, Julia Hauer, Andreas Schedl, Ben Wielockx, Graeme Eisenhofer, Cynthia L. Andoniadou, Charlotte Steenblock
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2020)
Pheochromocytoma (PCC) and paraganglioma (PGL) are rare neuroendocrine tumors associated with high cardiovascular morbidity and variable risk of malignancy. The current therapy of choice is surgical resection. Nevertheless, PCCs/PGLs are associated w
Externí odkaz:
https://doaj.org/article/bdf993559ed14b2b864a618cb5c09b65
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-5 (2018)
Abstract Background Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in
Externí odkaz:
https://doaj.org/article/5106d63024d548bda4249451a0f4bf1c
Autor:
Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar, Nalini Shah
Publikováno v:
Endocrine Connections, Vol 6, Iss 8, Pp 901-913 (2017)
Objective: To study genotype–phenotype spectrum of triple A syndrome (TAS). Methods: Retrospective chart analysis of Indian TAS patients (cohort 1, n = 8) and review of genotyped TAS cases reported in world literature (cohort 2, n = 133, 68 public
Externí odkaz:
https://doaj.org/article/618c7a0eb3b141528c6bac927deff6a6