Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Autor: Giorgio, E, Rolyan, H, Kropp, L, Chakka, Ab, Yatsenko, S, Di Gregorio, E, Lacerenza, D, Vaula, G, Talarico, F, Mandich, Paola, Toro, C, Pierre, Ee, Labauge, P, Capellari, S, Cortelli, P, Vairo, Fp, Miguel, D, Stubbolo, D, Marques, Lc, Gahl, W, Boespflug Tanguy, O, Melberg, A, Hassin Baer, S, Cohen, Os, Pjontek, R, Grau, A, Klopstock, T, Fogel, B, Meijer, I, Rouleau, G, Bouchard, Jp, Ganapathiraju, M, Vanderver, A, Dahl, N, Hobson, G, Brusco, A, Brussino, A, Padiath, Qs

Publikováno v: Human Mutation
Human mutation 34(8), 1160-1171 (2013). doi:10.1002/humu.22348

Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::641651cf6ec216a64f30bb2a913aac23
http://hdl.handle.net/11585/145895

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Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Autor: Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA., Rodriguez Bey G; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15213, USA., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India., Patil SJ; Division of Medical Genetics, Narayana Health-Mazumdar Shaw Medical Center, Narayana Health, Bangalore 560099, India., Kekatpure M; Department of Neurology, Division of Pediatric Neurology, Narayana Health-Mazumdar Shaw Medical Center, Narayana Health, Bangalore 560099, India., Afenjar A; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Unit of Molecular Genetics, Trousseau Hospital, Department of Genetics, APHP Sorbonne University, Paris 75012, France., Qebibo L; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Unit of Molecular Genetics, Trousseau Hospital, Department of Genetics, APHP Sorbonne University, Paris 75012, France.; Developmental Brain Disorders Laboratory, Imagine Institute, Paris 75015, France., Burglen L; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Unit of Molecular Genetics, Trousseau Hospital, Department of Genetics, APHP Sorbonne University, Paris 75012, France.; Developmental Brain Disorders Laboratory, Imagine Institute, Paris 75015, France., Tomoum H; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo 11591, Egypt., Demurger F; Department of Clinical Genetics, Vannes Hospital, Vannes 56017, France., Duborg C; Service de Génétique Moléculaire, CHU Rennes, Hôpital Sud, CLAD Ouest, Rennes 40770, France., Siddiqui S; Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad 500034, India., Tsan YC; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Abdullah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi, Rawalpindi 46300, Pakistan., Ali Z; Centre for Biotechnology and Microbiology, University of Swat, Charbagh, Swat, Khyber Pakhtunkhwa 19120, Pakistan., Saadi SM; Human Molecular Genetics Laboratory, NIBGE-PIEAS, Faisalabad 61010, Pakistan., Baig SM; Faculty of Life Sciences, Health Services Academy, Park Road, Islamabad 44000, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi 74800, Pakistan., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Padiath QS; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15213, USA.; Department of Neurobiology, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Sep 18. Date of Electronic Publication: 2024 Sep 18.

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.

Autor: Nmezi B, Bey GR, Oranburg TD, Dudnyk K, Lardo SM, Herdman N, Jacko A, Rubio S, Alcocer EL, Kofler J, Kim D, Rankin J, Kivuva E, Gutowski N, Schon K, van den Ameele J, Chinnery PF, Sousa SB, Palavra F, Toro C, Pinto E Vairo F, Saute J, Pan L, Alturkustani M, Hammond R, Gros-Louis F, Gold M, Park Y, Bernard G, Raininko R, Zhou J, Hainer SJ, Padiath QS

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Aug 09. Date of Electronic Publication: 2023 Aug 09.