Search Results - "Karimi, Esmat"

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

“…Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle sarcomere. Compound-heterozygous mutations in the nebulin gene ( NEB )…”
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Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy by Lindqvist, Johan, Lee, Eun-Jeong, Karimi, Esmat, Kolb, Justin, Granzier, Henk

“…Nemaline myopathy (NEM) is a congenital neuromuscular disorder primarily caused by nebulin gene (NEB) mutations. NEM is characterized by muscle weakness for…”
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Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing by Karimi, Esmat, Mahmoudian, Fatemeh, Reyes, Saul O. Lugo, Bargir, Umair Ahmed, Madkaikar, Manisha, Artac, Hasibe, Sabzevari, Araz, Lu, Na, Azizi, Gholamreza, Abolhassani, Hassan

“…•Inborn errors of immunity (IEI) constitute a heterogeneous group of mainly monogenic primary immune disorders.•The human gene connectome analysis shows that…”
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Spectrophotometric Determination of Rifampicin through Chelate Formation and Charge Transfer Complexation in Pharmaceutical Preparation and Biological Fluids by Sadeghi, Susan, Karimi, Esmat

“…Two simple and accurate spectrophotometric methods for determination of Rifampicin (RIF) are described. The first method is based on charge transfer (CT)…”
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Exploring Genetic Mechanisms in Nebulin-Based Nemaline Myopathy and Rhabdomyolysis by Karimi, Esmat

“…Skeletal muscle is a highly organized tissue housing components of contraction, metabolic, and regulatory machinery. These elements function coordinately to…”
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Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects by Karimi, Esmat, Gohlke, Jochen, van der Borgh, Mila, Lindqvist, Johan, Hourani, Zaynab, Kolb, Justin, Cossette, Stacy, Lawlor, Michael W., Ottenheijm, Coen, Granzier, Henk

“…Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in physiological processes such as regulating thin filament length…”
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Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy by Fabian, Lacramioara, Karimi, Esmat, Farman, Gerrie P, Gohlke, Jochen, Ottenheijm, Coen A C, Granzier, Hendrikus L, Dowling, James J

“…Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterized by muscle weakness and hypotonia, slow gross motor development, and decreased…”
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Mutations in the Large Protein Nebulin Trigger Typical Nemaline Myopathy with a Unique Molecular Mechanism by Lindqvist, Johan, Ma, Weikang, Hernandez, Yaeren, Li, Frank W., Kolb, Justin, Tonino, Paola, Kiss, Balazs, van der Pijl, Robbert, Karimi, Esmat, Hourani, Zaynab, Smith, John E., Ottenheijm, Coen A., Irving, Thomas C., Granzier, Henk L.

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Study of the effect of F17A mutation on characteristics of Bacillus thermocatenulatus lipase expressed in Pichia pastoris using in silico and experimental methods by Karimi, Esmat, Karkhane, Ali Asghar, Yakhchali, Bagher, Shamsara, Mehdi, Aminzadeh, Saeed, Torktaz, Ibrahim, Hosseini, Mostafa, Safari, Zahra

“…Bacillus thermocatenulatus lipase 2 (BTL2), a thermoalkalophilic lipase, is the best studied enzyme for its particular properties, which make it useful in…”
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In Silico and Experimental Characterization of Chimeric Bacillus thermocatenulatus Lipase with the Complete Conserved Pentapeptide of Candida rugosa Lipase by Hosseini, Mostafa, Karkhane, Ali Asghar, Yakhchali, Bagher, Shamsara, Mehdi, Aminzadeh, Saeed, Morshedi, Dena, Haghbeen, Kamahldin, Torktaz, Ibrahim, Karimi, Esmat, Safari, Zahra

“…Lipases are one of the highest value commercial enzymes as they have broad applications in detergent, food, pharmaceutical, and dairy industries. To provide…”
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Study of the effect of F 17 A mutation on characteristics of B acillus thermocatenulatus lipase expressed in P ichia pastoris using in silico and experimental methods by Karimi, Esmat, Karkhane, Ali Asghar, Yakhchali, Bagher, Shamsara, Mehdi, Aminzadeh, Saeed, Torktaz, Ibrahim, Hosseini, Mostafa, Safari, Zahra

“…Abstract B acillus thermocatenulatus lipase 2 ( BTL 2), a thermoalkalophilic lipase, is the best studied enzyme for its particular properties, which make it…”
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