Establishment of the South-Eastern Norway Regional Health Authority Resource Center for Children with Prenatal Alcohol/Drug Exposure

Autor: Gro C. C. Løhaugen, Marianne Møretrø Flak, Thorsten Gerstner, Cato Sundberg, Bjørn Lerdal, Jon Skranes

Publikováno v: Substance Abuse: Research and Treatment, Vol 2015, Iss Suppl. 2, Pp 67-75 (2015)

Externí odkaz: https://doaj.org/article/2a9304900d1c4f959839d0393730100e

Valproate-associated reversible encephalopathy in a 3-year-old girl with Pallister-Killian syndrome

Autor: Thorsten Gerstner, Nellie Bell, Stephan A Koenig

Publikováno v: Therapeutics and Clinical Risk Management, Vol 2008, Iss Issue 3, Pp 645-647 (2008)

Thorsten Gerstner, Nellie Bell, Stephan A KoenigUniversity Children’s Hospital, Mannheim, GermanyAbstract: Valproic acid (VPA) is considered to be a drug of first choice for the therapy of generalized and focal epilepsies, including special epilept

Externí odkaz: https://doaj.org/article/7d023f2ca3bc4e08a758864bb2a6e332

Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

Autor: Nicola de Prisco, Caitlin Ford, Nathan D. Elrod, Winston Lee, Lauren C. Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S. Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin Õunap, Karit Reinson, Monica H. Wojcik, Jill A. Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K. George-Abraham, Catherine A. Buchanan, Andrea Hanson-Khan, Jonathan A. Bernstein, Aikaterini A. Nella, Wendy K. Chung, Vicky Brandt, Marko Jovanovic, Kimara L. Targoff, Hari Krishna Yalamanchili, Eric J. Wagner, Vincenzo A. Gennarino

Publikováno v: Science Advances. 9

Alternative polyadenylation (APA) creates distinct transcripts from the same gene by cleaving the pre-mRNA at poly(A) sites that can lie within the 3′ untranslated region (3′UTR), introns, or exons. Most studies focus on APA within the 3′UTR; h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9b46c2af7bbd8a720ad40632d3eacdb9
https://doi.org/10.1126/sciadv.ade4814

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

Autor: Christiane Zweier, Anne Gregor, Caroline Maxton, Tatiana Cherevatova, Nicola Foulds, Arjan Bouman, John A. Bernat, Hannah Bombei, Heinrich Sticht, Sarah Schuhmann, Sixto García-Miñaur, Liudmila Bessonova, Tobias B. Haack, Lyusya Melikyan, A. A. Sharkov, Marta Pacio-Míguez, Sabine Hoffjan, Fernando Santos-Simarro, Georgia Vasileiou, Petra Stöbe, María Palomares-Bralo, Mandy Krumbiegel, Natasha J Brown, Moritz Hebebrand, Bernt Popp, Karen Stals, Alma Kuechler, Ruth Falb, Marwan Shinawi, Thorsten Gerstner, Johannes R. Lemke, Eva M. C. Schwaibold, Usha Kini, N. V. Shcherbakova, André Reis, Marta Bertoli, Jasmin Beygo, Peter Sparber, Sally Ann Lynch, Tanja Meerbrei, Tabib Dabir, David Hunt, Annick Toutain

Publikováno v: Human Molecular Genetics
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265

Recently, others and we identified de novo FBXO11 (F-Box only protein 11) variants as causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical and mutational information on 23 additional individuals. The phenotypic spectr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84e1c36b221ba0f786e0d35fa0e1ac8f
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85124433708

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating

Autor: Claudia Schob, Heidi L. Rehm, Johannes R. Lemke, Brianna Pruniski, Yongqiang Zhang, Stefan Kindler, Claudia A. L. Ruivenkamp, Tiffani L McDonough, Arie van Haeringen, Ulrike B. S. Hedrich, Robert Bähring, Grace E. VanNoy, Hanno J. Bolz, Emily Bryant, Trine Prescott, Holger Lerche, Georgios Tachtsidis, Kristian Tveten, Heather M. McLaughlin, Mahmoud Koko, Thorsten Gerstner, Stephanie DiTroia, U. Zechner

Publikováno v: Human Molecular Genetics, 30(23), 2300-2314. OXFORD UNIV PRESS
Hum Mol Genet

Here, we report on six unrelated individuals, all presenting with early-onset global developmental delay, associated with impaired motor, speech and cognitive development, partly with developmental epileptic encephalopathy and physical dysmorphisms.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8438641d24be9f024344f14a1dc669a1
https://hdl.handle.net/1887/3257107