Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Autor: Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., van de Locht M; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy., Reunert J; Department of General Pediatrics, University of Münster, Münster, 48149, Germany., McLean CA; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, 3004, Australia.; Faculty of Medicine, Nursing, and Health Sciences, Monash University, Melbourne, Victoria, 3168, Australia., Zaki M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., de Winter JM; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Conijn S; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Hoomoedt D; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands., Neto OLA; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, 20122, Italy., Viaene AN; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, 19104 PA, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Gorokhova S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, 13005, France.; INSERM, U1251-MMG, Aix-Marseille Université, Marseille, 13009, France., Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Acquaye N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Napoli L; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy., Park JH; Department of General Pediatrics, University Hospital Münster, Münster, 48149 Germany., Immadisetty K; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA., Miles LB; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia., Essawi M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., McModie S; Department of Neurology, Alfred Health, Melbourne, Victoria, 3004, Australia., Ferreira LF; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Department of Orthopaedic Surgery, Duke University School of Medicine, Durham, NC 27710, USA., Zanotti S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy., Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., ElBagoury N; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., Johnson KR; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Zhang Y; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Laing NG; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia., Davis MR; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia., Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia., Hwee DT; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA., Hartman JJ; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA., Malik FI; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA., Kekenes-Huskey PM; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA., Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy., Sharaf-Eldin W; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt., Marquardt T; Department of General Pediatrics, University of Münster, Münster, 48149, Germany., Ravenscroft G; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Ottenheijm CAC; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.

Publikováno v: Science translational medicine [Sci Transl Med] 2024 Apr 03; Vol. 16 (741), pp. eadg2841. Date of Electronic Publication: 2024 Apr 03.

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NR5A1 /SF-1 Collaborates with Inhibin α and the Androgen Receptor.

Autor: Naamneh Elzenaty, Rawda^1,2,3 (AUTHOR) rawda.naamneh@students.unibe.ch, Kouri, Chrysanthi^1,2,3 (AUTHOR) chrysanthi.kouri@students.unibe.ch, Martinez de Lapiscina, Idoia^1,2,4,5,6,7 (AUTHOR) idoia.martinezdelapiscina@unibe.ch, Sauter, Kay-Sara^1,2 (AUTHOR) kay.sauter@unibe.ch, Moreno, Francisca⁸ (AUTHOR) moreno_framac@gva.es, Camats-Tarruella, Núria⁹ (AUTHOR) nucata@yahoo.es, Flück, Christa E.^1,2 (AUTHOR) christa.flueck@unibe.ch

Publikováno v: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 18, p10109. 21p.

Potential Value of miR-23a for Discriminating Neuromyelitis Optica Spectrum Disorder from Multiple Sclerosis.

Autor: Sharaf-Eldin W; Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt., Kishk N; Neurology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Sakr B; Rheumatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., El-Hariri H; Department of Community Medicine, National Research Centre, Cairo, Egypt., Refeat M; Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt., ElBagoury N; Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt., Essawi M; Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.

Publikováno v: Archives of Iranian medicine [Arch Iran Med] 2020 Oct 01; Vol. 23 (10), pp. 678-687. Date of Electronic Publication: 2020 Oct 01.

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