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the 20th letter of the Roman alphabet (同)t

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tritiumの化学記号

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1. 後天性ＱＴ延長症候群 acquired long qt syndrome
2. 先天性QT延長症候群の臨床的特徴 clinical features of congenital long qt syndrome
3. 心血管疾患における低マグネシウム血症の意義 significance of hypomagnesemia in cardiovascular disease
4. 頻脈性不整脈の急性期マネージメントの概要 overview of the acute management of tachyarrhythmias
5. 心電図チュートリアル：心室性不整脈 ecg tutorial ventricular arrhythmias

English Journal

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease.

Synofzik M1, Born C2, Rominger A3, Lummel N4, Schöls L5, Biskup S6, Schüle C2, Grasshoff U7, Klopstock T8, Adamczyk C9.Author information 1Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Baden-Württemberg, Germany; German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Baden-Württemberg, Germany. Electronic address: matthis.synofzik@uni-tuebingen.de.2Department of Psychiatry and Psychotherapy, Ludwig-Maximilians-University, Munich, Bavaria, Germany.3Department of Nuclear Medicine, Ludwig-Maximilians-University, Munich, Bavaria, Germany.4Department of Neuroradiology, Ludwig-Maximilians-University, Munich, Bavaria, Germany.5Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Baden-Württemberg, Germany; German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Baden-Württemberg, Germany.6Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Baden-Württemberg, Germany; German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Baden-Württemberg, Germany; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Baden-Württemberg, Germany.7Institute of Medical Genetics and Applied Genomics, University of Tübingen, Baden-Württemberg, Germany.8Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Bavaria, Germany; German Research Center for Neurodegenerative Diseases (DZNE), Munich, Bavaria, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Bavaria, Germany.9Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Bavaria, Germany.AbstractTargeted high-throughput sequencing of many amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD) genes in parallel has the potential to reveal novel ALS- and/or FTD-phenotypes and to provide missing links on the ALS-FTD continuum. For example, although the 43-kDa transactive response DNA binding protein is the major pathologic hallmark linking ALS and FTD, mutations in the gene encoding 43-kDa transactive response DNA binding protein (TARDBP) have been appreciated only as a cause of ALS-phenotypes, but not yet of pure FTD. Thus, the genetic link is not yet well substantiated that TARDBP mutations can cause the full spectrum of the ALS-FTD continuum. High-throughput sequencing of 18 ALS and FTD genes in an index patient presenting with early-onset pure (behavioral) FTD and a positive family history for ALS revealed an established TARDBP mutation, A382T. This finding demonstrates that a TARDPB mutation can cause early-onset pure FTD without evidence for ALS even in advanced FTD disease stages. Moreover, it indicates that TARDPB screening might be considered even in young patients with "pure" neuropsychiatric disturbances and without evidence of neurodegenerative disease in the parental generation.
Neurobiology of aging.Neurobiol Aging.2014 May;35(5):1212.e1-5. doi: 10.1016/j.neurobiolaging.2013.10.092. Epub 2013 Oct 29.
Targeted high-throughput sequencing of many amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD) genes in parallel has the potential to reveal novel ALS- and/or FTD-phenotypes and to provide missing links on the ALS-FTD continuum. For example, although the 43-kDa transactive respon
PMID 24300238

PGRN haploinsufficiency increased Wnt5a signaling in peripheral cells from frontotemporal lobar degeneration-progranulin mutation carriers.

Alquézar C1, Esteras N2, de la Encarnación A2, Alzualde A3, Moreno F4, López de Munain A5, Martín-Requero A6.Author information 1Department of Cellular and Molecular Medicine, Centro de Investigaciones Biológicas, Madrid, Spain; CIBER de Enfermedades Raras.2Department of Cellular and Molecular Medicine, Centro de Investigaciones Biológicas, Madrid, Spain.3Neuroscience Area-Institute Biodonostia, San Sebastián, Spain; Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Neurodegenerativas.4Neuroscience Area-Institute Biodonostia, San Sebastián, Spain; Department of Neurology, Hospital Donostia, San Sebastián, Spain; Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Neurodegenerativas.5Neuroscience Area-Institute Biodonostia, San Sebastián, Spain; Department of Neurology, Hospital Donostia, San Sebastián, Spain; Department of Neurosciences, University of Basque Country, San Sebastián, Spain; Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Neurodegenerativas.6Department of Cellular and Molecular Medicine, Centro de Investigaciones Biológicas, Madrid, Spain; CIBER de Enfermedades Raras. Electronic address: amrequero@cib.csic.es.AbstractLoss-of-function progranulin (PGRN) mutations have been identified as the major cause of frontotemporal lobar degeneration with TDP-43 protein inclusions (FTLD-TDP). Previously, we reported cell cycle-related alterations in lymphoblasts from FTLD-TDP patients, carrying the c.709-1G>A null PGRN mutation, suggesting aberrant cell cycle activation in affected neurons. Here we report that PGRN haploinsufficiency activates the extracellular signal-regulated protein kinases 1 and 2 pathway in a Ca(2+), protein kinase C-dependent, and pertussis toxin-sensitive manner. Addition of exogenous PGRN or conditioned medium from control cells normalized the response of PGRN-deficient lymphoblasts to serum activation. Our data indicated that noncanonical Wnt5a signaling might be overactivated by PGRN deficiency. We detected increased cellular and secreted levels of Wnt5a in PGRN-deficient lymphoblasts associated with enhanced phosphorylated calmodulin kinase II. Moreover, treatment of control cells with exogenous Wingless-type 5a (Wnt5a)-activated Ca(2+)/calmodulin kinase II (CaMKII), increased extracellular signal-regulated protein kinases 1 and 2 activity and cell proliferation up to the levels found in c.709-1G>A carrier cells. PGRN knockdown SH-SY5Y neuroblastoma cells also show enhanced Wnt5a content and signaling. Taken together, our results revealed an important role of Wnt signaling in FTLD-TDP pathology and suggest a novel target for therapeutic intervention.
Neurobiology of aging.Neurobiol Aging.2014 Apr;35(4):886-98. doi: 10.1016/j.neurobiolaging.2013.09.021. Epub 2013 Oct 16.
Loss-of-function progranulin (PGRN) mutations have been identified as the major cause of frontotemporal lobar degeneration with TDP-43 protein inclusions (FTLD-TDP). Previously, we reported cell cycle-related alterations in lymphoblasts from FTLD-TDP patients, carrying the c.709-1G>A null PGRN mu
PMID 24139281

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Le Ber I1, Van Bortel I2, Nicolas G3, Bouya-Ahmed K2, Camuzat A2, Wallon D3, De Septenville A2, Latouche M2, Lattante S2, Kabashi E2, Jornea L2, Hannequin D3, Brice A4; French research Network on FTLD/FTLD-ALS.Collaborators (22)Auriacombe S, Brice A, Blanc F, Couratier P, Didic M, Dubois B, Duyckaerts C, Habert MO, Golfier V, Guedj E, Lacomblez L, Ber IL, Levy R, Meininger V, Michel BF, Pasquier F, Salengro R, Thomas-Anterion C, Puel M, Salachas F, Sellal F, Vercelletto M.
Neurobiology of aging.Neurobiol Aging.2014 Apr;35(4):934.e5-6. doi: 10.1016/j.neurobiolaging.2013.09.016. Epub 2013 Oct 9.
hnRNPA2B1 and hnRNPA1 mutations have been recently identified by exome sequencing in three families presenting with multisystem proteinopathy (MSP), a rare complex phenotype associating frontotemporal lobar degeneration (FTLD), Paget disease of bone (PDB), inclusion body myopathy (IBM), and amyotrop
PMID 24119545