Polymorphisms of Beta Defensins Are Associated with the Risk of Severe Acute Pancreatitis

Autor: Tiszlavicz, Z., Szabolcs, A., Takács, T., Farkas, G., Kovács-Nagy, R., Szántai, E., Sasvári-Székely, M., Mándi, Y.

Publikováno v: In Pancreatology October 2010 10(4):483-490

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Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder.

Autor: Rüsch CT; Division of Pediatric Neurology and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Wortmann SB; Institute of Human Genetics, Technische Universität München, München, Germany.; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.; Paracelcus Medical University (PMU), University Children's Hospital, Salzburg, Austria., Kovacs-Nagy R; Institute of Human Genetics, Technische Universität München, München, Germany.; Department of Molecular Biology, Institute of Biochemistry and Molecular Biology, Semmelweis University, Budapest, Hungary., Grehten P; Department of Diagnostic Imaging and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Latal B; Division of Child Department and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Stettner GM; Division of Pediatric Neurology and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland.

Publikováno v: Neuropediatrics [Neuropediatrics] 2021 Apr; Vol. 52 (2), pp. 126-132. Date of Electronic Publication: 2020 Nov 23.

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Autor: Stenton SL; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Sheremet NL; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia., Catarino CB; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany., Andreeva NA; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia., Assouline Z; Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France., Barboni P; Scientific Institute San Raffaele, Milan, Italy., Barel O; Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel., Berutti R; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Bychkov I; Research Centre for Medical Genetics, Moscow, Russia., Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Capristo M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Carbonelli M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Cascavilla ML; Scientific Institute San Raffaele, Milan, Italy., Charbel Issa P; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Freisinger P; Department of Pediatrics, Klinikum am Steinenberg, Reutlingen, Germany., Gerber S; Laboratory Genetics in Ophthalmology (LGO), INSERM UMR1163 - Institute of Genetic Diseases, Imagine. Paris, France., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Graf E; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Heidler J; Functional Proteomics, Medical School, Goethe University, Frankfurt am Main, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Heon E; The Hospital for Sick Children, Department of Ophthalmology and Vision Sciences, The University of Toronto, Toronto, Canada., Itkis YS; Research Centre for Medical Genetics, Moscow, Russia., Javasky E; Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel., Kaplan J; Laboratory Genetics in Ophthalmology (LGO), INSERM UMR1163 - Institute of Genetic Diseases, Imagine. Paris, France., Kopajtich R; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Kornblum C; Department of Neurology, University Hospital Bonn, Bonn, Germany., Kovacs-Nagy R; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary., Krylova TD; Research Centre for Medical Genetics, Moscow, Russia., Kunz WS; Department of Experimental Epileptology and Cognition Research, University of Bonn, Bonn, Germany., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Ludwig C; Bavarian Center for Biomolecular Mass Spectrometry (BayBioMS), Technische Universität München, Munich, Germany., Malacarne PF; Institute for Cardiovascular Physiology, Goethe-University Frankfurt, Frankfurt am Main, Germany., Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria., Meisterknecht J; Functional Proteomics, Medical School, Goethe University, Frankfurt am Main, Germany., Nevinitsyna TA; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia., Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute for Rare Diseases.; Talpiot Medical Leadership Program, and., Shmelkova MS; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia., Strom TM; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany., Tagliavini F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Tzadok M; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Vignal-Clermont C; Ophthalmology Department, Centre National d'Ophtalmologie des Qinze-Vingts, Paris, France., Wagner M; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Zakharova EY; Research Centre for Medical Genetics, Moscow, Russia., Zhorzholadze NV; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia., Rozet JM; Laboratory Genetics in Ophthalmology (LGO), INSERM UMR1163 - Institute of Genetic Diseases, Imagine. Paris, France., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Tsygankova PG; Research Centre for Medical Genetics, Moscow, Russia., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster of Systems Neurology (SyNergy), Munich, Germany., Wittig I; Functional Proteomics, Medical School, Goethe University, Frankfurt am Main, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site RheinMain, Frankfurt, Germany., Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2021 Mar 15; Vol. 131 (6).

Identification of consensus homozygous regions and their associations with growth and feed efficiency traits in American mink.

Autor: Davoudi, Pourya¹ (AUTHOR), Do, Duy Ngoc¹ (AUTHOR), Rathgeber, Bruce¹ (AUTHOR), Colombo, Stefanie¹ (AUTHOR), Sargolzaei, Mehdi^2,3 (AUTHOR), Plastow, Graham⁴ (AUTHOR), Wang, Zhiquan⁴ (AUTHOR), Miar, Younes¹ (AUTHOR) miar@dal.ca

Publikováno v: BMC Genomic Data. 7/10/2024, Vol. 25 Issue 1, p1-11. 11p.