Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Martin, Poms"'
Autor:
Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Ornithine Transcarbamylase Deficiency (OTCD) is an X-linked urea cycle disorder characterized by acute hyperammonemic episodes. Hemizygous males are usually affected by a severe/fatal neonatal-onset form or, less frequently, by a
Externí odkaz:
https://doaj.org/article/12abc63a342d43f697765156f5a5ac26
Autor:
Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R. Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B. Wortmann, Vassiliki Konstantopoulou, Martina Huemer
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 2, p 40 (2024)
Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D susp
Externí odkaz:
https://doaj.org/article/828e56356a734ec4bf9869a698e27071
Autor:
Georgios Makris, Semih Kayhan, Marvin Kreuzer, Véronique Rüfenacht, Erica Faccin, Jarl Underhaug, Carmen Diez‐Fernandez, Philip A. Knobel, Martin Poms, Nadine Gougeard, Vicente Rubio, Aurora Martinez, Martin Pruschy, Johannes Häberle
Publikováno v:
Cancer Communications, Vol 43, Iss 4, Pp 508-512 (2023)
Externí odkaz:
https://doaj.org/article/a86d6ccade28424492f8f58fb1112fa6
Autor:
Andrea Bazo, Aquilino Lantero, Itsaso Mauleón, Leire Neri, Martin Poms, Johannes Häberle, Ana Ricobaraza, Bernard Bénichou, Jean-Philippe Combal, Gloria Gonzalez-Aseguinolaza, Rafael Aldabe
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 23, p 14940 (2022)
Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder caused by mutations in the gene encoding argininosuccinate synthetase 1 (ASS1) that catalyzes the third step of the urea cycle. CTLN1 patients suffer from impaired elimination of nit
Externí odkaz:
https://doaj.org/article/3c5c85fe61534425b1179f700c11b6e0
Autor:
Pei Jin Lim, Severin Marfurt, Uschi Lindert, Lennart Opitz, Timothée Ndarugendamwo, Pakeerathan Srikanthan, Martin Poms, Martin Hersberger, Claus-Dieter Langhans, Dorothea Haas, Marianne Rohrbach, Cecilia Giunta
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by low bone density, bone fragility and recurrent fractures. The characterization of its heterogeneous genetic basis has allowed the identification of novel players in bone
Externí odkaz:
https://doaj.org/article/9bee465ed539427a92a499a68432087a
Autor:
Bernadette Y. Hsu, Alexander Laemmle, Jean-Marc Nuoffer, Johannes Häberle, Holger Willenbring, Martin Poms, Véronique Rüfenacht, Martin Carl Sadowski, Joshua Robinson, Mariia Borsuk
Publikováno v:
Laemmle, Alexander; Poms, Martin; Hsu, Bernadette; Borsuk, Mariia; Rüfenacht, Véronique; Robinson, Joshua; Sadowski, Martin C.; Nuoffer, Jean-Marc; Häberle, Johannes; Willenbring, Holger (2022). Aquaporin 9 Induction in Human iPSC-derived Hepatocytes Facilitates Modeling of Ornithine Transcarbamylase Deficiency. Hepatology, 76(3), pp. 646-659. Wiley 10.1002/hep.32247
BACKGROUND & AIMS Patient-derived human induced pluripotent stem cells (hiPSCs) differentiated into hepatocytes (hiPSC-Heps) have facilitated the study of rare genetic liver diseases. Here, we aimed to establish an in vitro liver disease model of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36435f367c3f91d6ceb036f10ec066cd
https://doi.org/10.5167/uzh-209426
https://doi.org/10.5167/uzh-209426
Autor:
Patrick Forny, Ximena Bonilla, David Lamparter, Wenguang Shao, Tanja Plessl, Caroline Frei, Anna Bingisser, Sandra Goetze, Audrey van Drogen, Keith Harshman, Patrick G. A. Pedrioli, Cedric Howald, Martin Poms, Florian Traversi, Sarah Cherkaoui, Raphael J. Morscher, Luke Simmons, Merima Forny, Ioannis Xenarios, Ruedi Aebersold, Nicola Zamboni, Gunnar Raetsch, Emmanouil Dermitzakis, Bernd Wollscheid, Matthias R. Baumgartner, D. Sean Froese
Multi-layered omics approaches can help define relationships between genetic factors, biochemical processes and phenotypes thus extending research of inherited diseases beyond identifying their monogenic cause 1. We implemented a multi-layered omics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31c66a499557bdb72e7a6a318d421208
https://doi.org/10.1101/2022.01.27.22269972
https://doi.org/10.1101/2022.01.27.22269972
Autor:
Lisa M. Crowther, Martin Poms, Martina Zandl‐Lang, Lucia Abela, Hans Hartmann, Michelle Seiler, Déborah Mathis, Barbara Plecko
AIM Deficiency of antiquitin (α-aminoadipic semialdehyde dehydrogenase ), an enzyme involved in lysine degradation and encoded by ALDH7A1, is the major cause of vitamin B6 -dependent epilepsy (PDE-ALDH7A1). Despite seizure control with high dose pyr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e69780bd3b99006172f0e529c13fe5
Autor:
Georgios Makris, Semih Kayhan, Marvin Kreuzer, Véronique Rüfenacht, Erica Faccin, Jarl Underhaug, Carmen Diez-Fernandez, Philip A. Knobel, Martin Poms, Aurora Martinez, Martin Pruschy, Johannes Häberle
Publikováno v:
Molecular Genetics and Metabolism. 135:284-285
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e8c63177df7ba89d91f56b08dcd3ad9
https://doi.org/10.1016/j.ymgme.2022.01.062
https://doi.org/10.1016/j.ymgme.2022.01.062
Publikováno v:
Journal of Inherited Metabolic Disease. 42:620-628
Deficiency of antiquitin (ATQ), an enzyme involved in lysine degradation, is the major cause of vitamin B6 -dependent epilepsy. Accumulation of the potentially neurotoxic α-aminoadipic semialdehyde (AASA) may contribute to frequently associated deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b640f7f187082b2f94664bd2ed5ab53
https://doi.org/10.1002/jimd.12076
https://doi.org/10.1002/jimd.12076