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Reference EntriesFull Text
nebulin
Publisher:Oxford University Press
Journal title:A Dictionary of Biomedicine, 2019
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Nebulin: big protein with big responsibilities
Author / Creator:Yuen, Michaela ; Ottenheijm, Coen A. C.
Publisher:Cham: Springer International Publishing
Journal title:Journal of muscle research and cell motility, 2020-03, Vol.41 (1), p.103-124
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A Circular RNA Generated from Nebulin (NEB) Gene Splicing Promotes Skeletal Muscle Myogenesis in Cattle as Detected by a Multi‐Omics Approach
Author / Creator:Huang, Kongwei ; Li, Zhipeng ; Zhong, Dandan ; Yang, Yufeng ; Yan, Xiuying ; Feng, Tong ; Wang, Xiaobo ; Zhang, Liyin ; Shen, Xinyue ; Chen, Mengjie ; Luo, Xier ; Cui, Kuiqing ; Huang, Jieping ; Rehman, Saif Ur ; Jiang, Yu ; Shi, Deshun ; Pauciullo, Alfredo ; Tang, Xiangfang ; Liu, Qingyou ; Li, Hui
Publisher:Germany: John Wiley & Sons, Inc
Journal title:Advanced science, 2024-01, Vol.11 (3), p.e2300702-n/a
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Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo
Author / Creator:Witt, Christian C ; Burkart, Christoph ; Labeit, Dietmar ; McNabb, Mark ; Wu, Yiming ; Granzier, Henk ; Labeit, Siegfried
Publisher:Chichester, UK: John Wiley & Sons, Ltd
Journal title:The EMBO journal, 2006-08, Vol.25 (16), p.3843-3855
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Nebulin stiffens the thin filament and augments cross-bridge interaction in skeletal muscle
Author / Creator:Kiss, Balázs ; Lee, Eun-Jeong ; Ma, Weikang ; Li, Frank W. ; Tonino, Paola ; Mijailovich, Srboljub M. ; Irving, Thomas C. ; Granzier, Henk L.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2018-10, Vol.115 (41), p.10369-10374
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A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region
Author / Creator:Sagath, Lydia ; Lehtokari, Vilma-Lotta ; Wallgren-Pettersson, Carina ; Pelin, Katarina ; Kiiski, Kirsi
Publisher:United States: Public Library of Science
Journal title:PloS one, 2022-05, Vol.17 (5), p.e0267793-e0267793
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Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
Author / Creator:Lindqvist, Johan ; Ma, Weikang ; Li, Frank ; Hernandez, Yaeren ; Kolb, Justin ; Kiss, Balazs ; Tonino, Paola ; van der Pijl, Robbert ; Karimi, Esmat ; Gong, Henry ; Strom, Josh ; Hourani, Zaynab ; Smith, John E. ; Ottenheijm, Coen ; Irving, Thomas ; Granzier, Henk
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-06, Vol.11 (1), p.2699-2699, Article 2699
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Nebulin and N-WASP Cooperate to Cause IGF-1-Induced Sarcomeric Actin Filament Formation
Author / Creator:Takano, Kazunori ; Watanabe-Takano, Haruko ; Suetsugu, Shiro ; Kurita, Souichi ; Tsujita, Kazuya ; Kimura, Sumiko ; Karatsu, Takashi ; Takenawa, Tadaomi ; Endo, Takeshi
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2010-12, Vol.330 (6010), p.1536-1540
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Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy
Author / Creator:Lindqvist, Johan ; Lee, Eun-Jeong ; Karimi, Esmat ; Kolb, Justin ; Granzier, Henk
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-11, Vol.14 (11), p.e0224467-e0224467
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Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function
Author / Creator:Li, Frank ; Kolb, Justin ; Crudele, Julie ; Tonino, Paola ; Hourani, Zaynab ; Smith, 3rd, John E ; Chamberlain, Jeffrey S ; Granzier, Henk
Publisher:England: BioMed Central Ltd
Journal title:Skeletal muscle, 2020-01, Vol.10 (1), p.2-2, Article 2
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Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds
Author / Creator:Ahram, Dina F ; Grozdanic, Sinisa D ; Kecova, Helga ; Henkes, Arjen ; Collin, Rob W J ; Kuehn, Markus H
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-05, Vol.10 (5), p.e0126660-e0126660
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ArticlesPeer ReviewedFull Text
Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation
Author / Creator:Lam, Le Thanh ; Holt, Ian ; Laitila, Jenni ; Hanif, Mubashir ; Pelin, Katarina ; Wallgren-Pettersson, Carina ; Sewry, Caroline A. ; Morris, Glenn E.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-10, Vol.8 (1), p.15728-10, Article 15728
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A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness
Author / Creator:Mizutani, Hironori ; Misumi, Yohei ; Hamanaka, Kohei ; Tawara, Nozomu ; Miyatake, Satoko ; Matsumoto, Naomichi ; Ueda, Mitsuharu
Publisher:United States: Cureus
Journal title:Curēus (Palo Alto, CA), 2025-02, Vol.17 (2), p.e78945
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Myostatin Inhibition Using ActRIIB-mFc Does Not Produce Weight Gain or Strength in the Nebulin Conditional KO Mouse
Author / Creator:Tinklenberg, Jennifer A ; Siebers, Emily M ; Beatka, Margaret J ; Fickau, Brittany A ; Ayres, Samuel ; Meng, Hui ; Yang, Lin ; Simpson, Pippa ; Granzier, Henk L ; Lawlor, Michael W
Publisher:England: Oxford University Press
Journal title:Journal of neuropathology and experimental neurology, 2019-02, Vol.78 (2), p.130-139
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ArticlesPeer ReviewedFull Text
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
Author / Creator:de Winter, Josine Marieke ; Buck, Danielle ; Hidalgo, Carlos ; Jasper, Jeffrey R ; Malik, Fady I ; Clarke, Nigel F ; Stienen, Ger J M ; Lawlor, Michael W ; Beggs, Alan H ; Ottenheijm, Coen A C ; Granzier, Henk
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2013-06, Vol.50 (6), p.383-392
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Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing
Author / Creator:Scoto, Mariacristina ; Cullup, Thomas ; Cirak, Sebahattin ; Yau, Shu ; Manzur, Adnan Y ; Feng, Lucy ; Jacques, Thomas S ; Anderson, Glenn ; Abbs, Stephen ; Sewry, Caroline ; Jungbluth, Heinz ; Muntoni, Francesco
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1249-1252
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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
Author / Creator:Malfatti, Edoardo ; Lehtokari, Vilma-Lotta ; Böhm, Johann ; De Winter, Josine M ; Schäffer, Ursula ; Estournet, Brigitte ; Quijano-Roy, Susana ; Monges, Soledad ; Lubieniecki, Fabiana ; Bellance, Remi ; Viou, Mai Thao ; Madelaine, Angéline ; Wu, Bin ; Taratuto, Ana Lía ; Eymard, Bruno ; Pelin, Katarina ; Fardeau, Michel ; Ottenheijm, Coen A C ; Wallgren-Pettersson, Carina ; Laporte, Jocelyn ; Romero, Norma B
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2014-04, Vol.2 (1), p.44-44, Article 44
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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
Author / Creator:Sztal, Tamar E ; McKaige, Emily A ; Williams, Caitlin ; Oorschot, Viola ; Ramm, Georg ; Bryson-Richardson, Robert J
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2018-05, Vol.6 (1), p.40-10, Article 40
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Functional Characterization of the Intact Diaphragm in a Nebulin-Based Nemaline Myopathy (NM) Model-Effects of the Fast Skeletal Muscle Troponin Activator tirasemtiv
Author / Creator:Lee, Eun-Jeong ; Kolb, Justin ; Hwee, Darren T ; Malik, Fady I ; Granzier, Henk L
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2019-10, Vol.20 (20), p.5008
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Neb: a zebrafish model of nemaline myopathy due to nebulin mutation
Author / Creator:Telfer, William R ; Nelson, Darcee D ; Waugh, Trent ; Brooks, Susan V ; Dowling, James J
Publisher:England: The Company of Biologists Limited
Journal title:Disease models & mechanisms, 2012-05, Vol.5 (3), p.389-396
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Showing 1 to 20 of 348 results

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nebulin

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Nebulin: big protein with big responsibilities

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A Circular RNA Generated from Nebulin (NEB) Gene Splicing Promotes Skeletal Muscle Myogenesis in Cattle as Detected by a Multi‐Omics Approach

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Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo

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Nebulin stiffens the thin filament and augments cross-bridge interaction in skeletal muscle

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A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

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Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

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Nebulin and N-WASP Cooperate to Cause IGF-1-Induced Sarcomeric Actin Filament Formation

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Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy

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Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function

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Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds

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Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

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A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness

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Myostatin Inhibition Using ActRIIB-mFc Does Not Produce Weight Gain or Strength in the Nebulin Conditional KO Mouse

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Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

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Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

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Functional Characterization of the Intact Diaphragm in a Nebulin-Based Nemaline Myopathy (NM) Model-Effects of the Fast Skeletal Muscle Troponin Activator tirasemtiv

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Neb: a zebrafish model of nemaline myopathy due to nebulin mutation

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