Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Autor: Shino, Shimada, Bobby G, Ng, Amy L, White, Kim K, Nickander, Coleman, Turgeon, Kristen L, Liedtke, Christina T, Lam, Esperanza, Font-Montgomery, Charles M, Lourenco, Miao, He, Dawn S, Peck, Luis A, Umana, Crescenda L, Uhles, Devon, Haynes, Patricia G, Wheeler, Michael J, Bamshad, Deborah A, Nickerson, Tom, Cushing, Ryan, Gates, Natalia, Gomez-Ospina, Heather M, Byers, Fernanda B, Scalco, Noelia N, Martinez, Rani, Sachdev, Lacey, Smith, Annapurna, Poduri, Stephen, Malone, Rebekah V, Harris, Ingrid E, Scheffer, Sergio D, Rosenzweig, David R, Adams, William A, Gahl, May Christine V, Malicdan, Kimiyo M, Raymond, Hudson H, Freeze, Xiaohong, Zhang

Publikováno v: Journal of medical genetics.

PurposeTo summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d43987ae7f70e65c7c9e2d98568529
https://pubmed.ncbi.nlm.nih.gov/35790351

Rhythmic liver drives feeding behavior.

Autor: Martinez-Sanchez N; National Institute for Health and Care Research Oxford Health Biomedical Research Centre and John Radcliffe Hospital, Oxford, UK.; Oxford Centre for Diabetes, Endocrinology and Metabolism and Oxford Kavli Institute for Nanoscience Discovery, University of Oxford, Oxford, UK., Ray D; National Institute for Health and Care Research Oxford Health Biomedical Research Centre and John Radcliffe Hospital, Oxford, UK.; Oxford Centre for Diabetes, Endocrinology and Metabolism and Oxford Kavli Institute for Nanoscience Discovery, University of Oxford, Oxford, UK.

Publikováno v: Science (New York, N.Y.) [Science] 2024 Nov 08; Vol. 386 (6722), pp. 622-623. Date of Electronic Publication: 2024 Nov 07.

Single-agent metronomic versus weekly oral vinorelbine as first-line chemotherapy in patients with HR-positive/HER2-negative advanced breast cancer: The randomized Tempo Breast study.

Autor: Freyer G; Medical Oncology Department, Institut de Cancérologie des HCL, 165 chemin du Grand Revoyet, 69495 Pierre-Bénite & Université de Lyon, Lyon, France. Electronic address: gilles.freyer@univ-lyon1.fr., Martinez-Jañez N; Oncology Department, Hospital Universitario Ramón y Cajal, Carretera De Colmenar Viejo km. 9,1, 28034 Madrid, Spain. Electronic address: mjnoelia@hotmail.com., Kukielka-Budny B; Oncology Department, Centrum Onkologii Ziemi Lubelskiej, Ul. Jaczewskiego 7, 20-090 Lublin, Poland. Electronic address: bozena-budny@wp.pl., Ulanska M; Oncology Department, Centrum Terapii Wspolczesnej, Ul. Kopcinskiego 21, 90-242 Łódź, Poland. Electronic address: m.ulanska@ctw.com.pl., Bourgeois H; Oncology Department, Centre Jean-Bernard, 9 rue Beauverger, 72015 Le Mans, France. Electronic address: h.bourgeois@cjb72.org., Muñoz M; Oncology Department, Hospital Clinic i Provincial de Barcelona, 170 Esc.2, pl. 5(a), 08036 Barcelona, Spain. Electronic address: mmunoz@clinic.cat., Morales S; Oncology Department, Hospital Universitario Arnau De Vilanova, Avenida Alcalde Rovira Roure, 80, 25198 Lleida, Spain. Electronic address: serafinmorales01@gmail.com., Calero JB; Oncology Department, Hospital Juan Ramón Jiménez, C/ Ronda Norte, s/n, 21005 Huelva, Spain. Electronic address: juanbayo@yahoo.es., Cortesi L; Hematology and Oncology Department, AOU Policlinico di Modena, Via del Pozzo, 71, 41125 Modena, Italy. Electronic address: hbc@unimore.it., Pintér T; Oncology Department, Petz Aladár County Hospital, Vasvári Pál u. 2-4, 9024 Győr, Hungary. Electronic address: pintert@petz.gyor.hu., Palácová M; Oncology Department, Masakikuv Oncologicky Ustav, Zluty Kopek 7, 656 53 Brno, Czech Republic. Electronic address: palacova@mou.cz., Cherciu N; Oncology Department, SC Oncolab SRL, Str. Bujorului, Nr. 7, 200385 Craiova, Romania. Electronic address: cherciu.nelly@yahoo.com., Petru E; Department of Obstetrics and Gynecology, Medical University of Graz, Auenbruggerplatz, 15, 8036 Graz, Austria. Electronic address: edgar.petru@medunigraz.at., Ettl J; Department of Obstetrics and Gynecology, Klinikum Rechts der Isar, Technische Universität München, Ismaninger Straße 22, 81675 Munich, Germany. Electronic address: johannes.ettl@tum.de., de Almeida C; Pierre Fabre Medicament, Medical & Patient/Consumer Department, 33 Av. Emile Zola, 92100 Boulogne Billancourt, France. Electronic address: cecilia.de.almeida.agudo@pierre-fabre.com., Villanova G; Pierre Fabre Medicament, Medical & Patient/Consumer Department, 33 Av. Emile Zola, 92100 Boulogne Billancourt, France. Electronic address: Gustavo.villanova@pierre-fabre.com., Raymond R; Pierre Fabre Medicament, Medical & Patient/Consumer Department, 33 Av. Emile Zola, 92100 Boulogne Billancourt, France. Electronic address: romain.raymond@pierre-fabre.com., Minh CTT; Pierre Fabre Medicament, Medical & Patient/Consumer Department, 33 Av. Emile Zola, 92100 Boulogne Billancourt, France. Electronic address: christine.ta.thanh.minh@pierre-fabre.com., Rodrigues A; Oncology Department, Instituto Portugues de Oncologia do Porto Francisco Gentil, EPE, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal. Electronic address: rodriguesana@mac.com., Cazzaniga ME; Phase 1 Clinical Research Unit, ASST Monza, via Pergolesi 33, 20052 Monza, Italy; Medical Oncology, University of Milano-Bicocca, Piazza dell'Ateneo Nuovo, 1, 20126, Milan, Italy. Electronic address: marina.cazzaniga@hsgerardo.org.

Publikováno v: Breast (Edinburgh, Scotland) [Breast] 2024 Apr; Vol. 74, pp. 103681. Date of Electronic Publication: 2024 Feb 09.

Author Correction: Low oral dose of 4-methylumbelliferone reduces glial scar but is insufficient to induce functional recovery after spinal cord injury.

Autor: Štepánková K; Institute of Experimental Medicine, Czech Academy of Sciences, Vídeňská, 1083, Prague, Czech Republic. katerina.stepankova@iem.cas.cz.; Department of Neuroscience, Charles University, Second Faculty of Medicine, 15006, Prague, Czech Republic. katerina.stepankova@iem.cas.cz., Chudíčková M; Institute of Experimental Medicine, Czech Academy of Sciences, Vídeňská, 1083, Prague, Czech Republic., Šimková Z; Institute of Experimental Medicine, Czech Academy of Sciences, Vídeňská, 1083, Prague, Czech Republic., Martinez-Varea N; Institute of Experimental Medicine, Czech Academy of Sciences, Vídeňská, 1083, Prague, Czech Republic.; Department of Neuroscience, Charles University, Second Faculty of Medicine, 15006, Prague, Czech Republic., Kubinová Š; Institute of Experimental Medicine, Czech Academy of Sciences, Vídeňská, 1083, Prague, Czech Republic.; Institute of Physics, Czech Academy of Sciences, 182 21, Prague, Czech Republic., Urdzíková LM; Institute of Experimental Medicine, Czech Academy of Sciences, Vídeňská, 1083, Prague, Czech Republic. lucia.machova@iem.cas.cz.; Department of Neuroscience, Charles University, Second Faculty of Medicine, 15006, Prague, Czech Republic. lucia.machova@iem.cas.cz., Jendelová P; Institute of Experimental Medicine, Czech Academy of Sciences, Vídeňská, 1083, Prague, Czech Republic. pavla.jendelova@iem.cas.cz.; Department of Neuroscience, Charles University, Second Faculty of Medicine, 15006, Prague, Czech Republic. pavla.jendelova@iem.cas.cz., Kwok JCF; Institute of Experimental Medicine, Czech Academy of Sciences, Vídeňská, 1083, Prague, Czech Republic. j.kwok@leeds.ac.uk.; Faculty of Biological Sciences, University of Leeds, Leeds, LS2 9JT, UK. j.kwok@leeds.ac.uk.

Publikováno v: Scientific reports [Sci Rep] 2024 Jan 08; Vol. 14 (1), pp. 785. Date of Electronic Publication: 2024 Jan 08.

Weight Loss and Sleep, Current Evidence in Animal Models and Humans.

Autor: Gangitano E; OCDEM Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LE, UK.; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy., Martinez-Sanchez N; OCDEM Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LE, UK., Bellini MI; Department of Surgery, Sapienza University of Rome, 00161 Rome, Italy., Urciuoli I; Department of Surgery, Sapienza University of Rome, 00161 Rome, Italy., Monterisi S; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, UK., Mariani S; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy., Ray D; OCDEM Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LE, UK., Gnessi L; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy.

Publikováno v: Nutrients [Nutrients] 2023 Aug 03; Vol. 15 (15). Date of Electronic Publication: 2023 Aug 03.