Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing
暂无分享,去创建一个
Yanhua Chen | Hui Huang | Meiyan Chen | Xin Yi | Jing Wu | Ning Liang | Lihui Tang | Huishuang Chen | Wei Wei | Tianying Wei | Ming Qi | X. Yi | M. Qi | Hui Huang | Yan-hua Chen | Jing Wu | Wei Wei | Huishuang Chen | Meiyan Chen | Ning Liang | T. Wei | Lihui Tang
[1] Aldo Quattrone,et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 , 2000, Nature Genetics.
[2] Salwa Hindawi,et al. Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing , 2013, Journal of Thrombosis and Thrombolysis.
[3] M. Pericak-Vance,et al. Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. , 1999, Genomics.
[4] Giuseppe Remuzzi,et al. Monogenic diseases that can be cured by liver transplantation. , 2013, Journal of hepatology.
[5] M Nakagawa,et al. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma , 2004, Neurology.
[6] Soo-A Kim,et al. Myotubularin and MTMR2, Phosphatidylinositol 3-Phosphatases Mutated in Myotubular Myopathy and Type 4B Charcot-Marie-Tooth Disease* , 2002, The Journal of Biological Chemistry.
[7] M. Devoto,et al. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. , 1996, Human molecular genetics.
[8] Michael E Shy,et al. Hereditary motor and sensory neuropathies: a biological perspective , 2002, The Lancet Neurology.
[9] Thomas Pk,et al. Autosomal recessive hereditary motor and sensory neuropathy , 2000, Current opinion in neurology.
[10] Davide Pareyson,et al. Diagnosis, natural history, and management of Charcot–Marie–Tooth disease , 2009, The Lancet Neurology.
[11] Michelangelo Foti,et al. PIKfyve controls fluid phase endocytosis but not recycling/degradation of endocytosed receptors or sorting of procathepsin D by regulating multivesicular body morphogenesis. , 2003, Molecular biology of the cell.
[12] Carsten Bergmann,et al. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. , 2003, Human molecular genetics.
[13] K. Hayasaka,et al. Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease , 2006, Journal of Human Genetics.
[14] Aldo Quattrone,et al. Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 , 2000 .
[15] M. Rebecchi,et al. Pleckstrin homology domains: a common fold with diverse functions. , 1998, Annual review of biophysics and biomolecular structure.
[16] P. Ghosh,et al. Knee MRI showing thickened peripheral nerves in Charcot–Marie–Tooth disease , 2012, Acta Neurologica Belgica.
[17] R. Ravazzolo,et al. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. , 2003, American journal of human genetics.
[18] J. Dixon,et al. The Phosphoinositide-3-phosphatase MTMR2 Associates with MTMR13, a Membrane-associated Pseudophosphatase Also Mutated in Type 4B Charcot-Marie-Tooth Disease* , 2005, Journal of Biological Chemistry.
[19] Karen Nuytemans,et al. Whole Exome Sequencing , 2020, Definitions.
[20] Murim Choi,et al. Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases , 2012, Genomics & informatics.
[21] P K Thomas,et al. Autosomal recessive forms of hereditary motor and sensory neuropathy. , 1980, Journal of neurology, neurosurgery, and psychiatry.
[22] Marius Sudol,et al. The Hippo signal transduction network in skeletal and cardiac muscle , 2014, Science Signaling.
[23] Jose A Morcuende,et al. Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease. , 2008, The Journal of bone and joint surgery. American volume.
[24] P K Thomas,et al. Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. , 2001, Brain : a journal of neurology.
[25] T. Bird,et al. Charcot-Marie-Tooth Neuropathy Type 4 , 2016 .
[26] R A Mann,et al. The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease. , 2000, Foot and ankle clinics.
[27] P K Thomas,et al. Autosomal recessive hereditary motor and sensory neuropathy , 2000, Current opinion in neurology.
[28] K. Claeys,et al. Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation , 2008, Annals of human genetics.
[29] A. Quattrone,et al. A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2) , 2004, Neurology.
[30] O. Combarros,et al. Prevalence of hereditary motor and sensory neuropathy in Cantabria , 1987, Acta neurologica Scandinavica.
[31] Isobel Franks. Genetics: Variants in SBF2 gene associated with survival in pancreatic adenocarcinoma , 2013, Nature Reviews Gastroenterology &Hepatology.
[32] Nada Jabado,et al. What can exome sequencing do for you? , 2011, Journal of Medical Genetics.
[33] P. Shannon,et al. Exome sequencing identifies the cause of a Mendelian disorder , 2009, Nature Genetics.
[34] C. van Broeckhoven,et al. Mutations in GDAP1 , 2002, Neurology.
[35] H. Skre,et al. Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease , 1974, Clinical genetics.
[36] Jia Chen,et al. Breathing Easier , 1996, Environmental Health Perspectives.
[37] P K Thomas,et al. The clinical features of hereditary motor and sensory neuropathy types I and II. , 1980, Brain : a journal of neurology.
[38] P. de Jonghe,et al. Treatment for Charcot-Marie-Tooth disease. , 2008, The Cochrane database of systematic reviews.
[39] S. Emr,et al. Phosphoinositide signaling and the regulation of membrane trafficking in yeast. , 2000, Trends in biochemical sciences.