muscle tissue disease

Literature (33)

Literature for DOID 66: muscle tissue disease

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Dystroglycan is required for proper retinal layering., Lunardi A,Cremisi F,Dente L, Dev Biol. February 15, 2006; 290(2):1095-564X.
Barrier-to-autointegration factor phosphorylation on Ser-4 regulates emerin binding to lamin A in vitro and emerin localization in vivo., Bengtsson L,Wilson KL, Mol Biol Cell. March 1, 2006; 17(3):1939-4586.
Emerin expression in early development of Xenopus laevis., Gareiss M,Eberhardt K,Krüger E,Kandert S,Böhm C,Zentgraf H,Müller CR,Dabauvalle MC, Eur J Cell Biol. March 1, 2005; 84(2-3):0171-9335.
Regulation and function of small heat shock protein genes during amphibian development., Heikkila JJ, J Cell Biochem. November 1, 2004; 93(4):0730-2312.
Amyloid beta(1-42) peptide alters the gating of human and mouse alpha-bungarotoxin-sensitive nicotinic receptors., Grassi F,Palma E,Tonini R,Amici M,Ballivet M,Eusebi F, J Physiol. February 15, 2003; 547(Pt 1):0022-3751.
Investigation of nuclear architecture with a domain-presenting expression system., Dreger CK,König AR,Spring H,Lichter P,Herrmann H, J Struct Biol. January 1, 2002; 140(1-3):1047-8477.
Expression of the gene encoding the beta-amyloid precursor protein APP in Xenopus laevis., van den Hurk WH,Bloemen M,Martens GJ, Brain Res Mol Brain Res. December 16, 2001; 97(1):0169-328X.
The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia., Saviane C,Conti F,Pusch M, J Gen Physiol. March 1, 1999; 113(3):1540-7748.
Chloride dependence of hyperpolarization-activated chloride channel gates., Pusch M,Jordt SE,Stein V,Jentsch TJ, J Physiol. March 1, 1999; 515 ( Pt 2):0022-3751.
A multiple subunit Mi-2 histone deacetylase from Xenopus laevis cofractionates with an associated Snf2 superfamily ATPase., Wade PA,Jones PL,Vermaak D,Wolffe AP, Curr Biol. July 2, 1998; 8(14):0960-9822.
Disruption of mitochondrial respiration inhibits volume-regulated anion channels and provokes neuronal cell swelling., Patel AJ,Lauritzen I,Lazdunski M,Honoré E, J Neurosci. May 1, 1998; 18(9):1529-2401.
Efficient repair of abasic sites in DNA by mitochondrial enzymes., Pinz KG,Bogenhagen DF, Mol Cell Biol. March 1, 1998; 18(3):1098-5549.
Dystrophin is replaced by utrophin in frog heart; implications for muscular dystrophy., Morris GE, Neuromuscul Disord. December 1, 1997; 7(8):0960-8966.
Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1., Schmidt-Rose T,Jentsch TJ, J Biol Chem. August 15, 1997; 272(33):1083-351X.
Molecular basis for decreased muscle chloride conductance in the myotonic goat., Beck CL,Fahlke C,George AL, Proc Natl Acad Sci U S A. October 1, 1996; 93(20):1091-6490.
Modulation of skeletal muscle sodium channels by human myotonin protein kinase., Mounsey JP,Xu P,John JE,Horne LT,Gilbert J,Roses AD,Moorman JR, J Clin Invest. May 1, 1995; 95(5):1558-8238.
Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements., Wang YH,Griffith J, Genomics. January 20, 1995; 25(2):1089-8646.
Xenopus fibrillin regulates directed convergence and extension., Skoglund P,Keller R, Dev Biol. January 15, 2007; 301(2):1095-564X.
Twenty odd years of stretch-sensitive channels., Hamill OP, Pflugers Arch. December 1, 2006; 453(3):1432-2013.
Influence of lamin A on the mechanical properties of amphibian oocyte nuclei measured by atomic force microscopy., Schäpe J,Prausse S,Radmacher M,Stick R, Biophys J. May 20, 2009; 96(10):1542-0086.
Testing the effects of FSHD candidate gene expression in vertebrate muscle development., Wuebbles RD,Long SW,Hanel ML,Jones PL, Int J Clin Exp Pathol. March 28, 2010; 3(4):1936-2625.
CNBP: a multifunctional nucleic acid chaperone involved in cell death and proliferation control., Calcaterra NB,Armas P,Weiner AM,Borgognone M, IUBMB Life. October 1, 2010; 62(10):1521-6543.
Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1., Richman DP,Yu Y,Lee TT,Tseng PY,Yu WP,Maselli RA,Tang CY,Chen TY, Neuromolecular Med. December 1, 2012; 14(4):1559-1174.
Essential roles of LEM-domain protein MAN1 during organogenesis in Xenopus laevis and overlapping functions of emerin., Reil M,Dabauvalle MC, Eur J Cell Biol. January 1, 2013; 92(8-9):0171-9335.
Activation of TRPV1 channels inhibits mechanosensitive Piezo channel activity by depleting membrane phosphoinositides., Borbiro I,Badheka D,Rohacs T, Sci Signal. February 10, 2015; 8(363):1937-9145.
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients., Vindas-Smith R,Fiore M,Vásquez M,Cuenca P,Del Valle G,Lagostena L,Gaitán-Peñas H,Estevez R,Pusch M,Morales F, Hum Mutat. January 1, 2016; 37(1):1098-1004.
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function., Gurzau AD,Chen K,Xue S,Dai W,Lucet IS,Ly TTN,Reversade B,Blewitt ME,Murphy JM, J Biol Chem. June 22, 2018; 293(25):1083-351X.
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4., Elia N,Palmio J,Castañeda MS,Shieh PB,Quinonez M,Suominen T,Hanna MG,Männikkö R,Udd B,Cannon SC, Neurology. March 26, 2019; 92(13):1526-632X.
S-nitrosylation of connexin43 hemichannels elicits cardiac stress-induced arrhythmias in Duchenne muscular dystrophy mice., Lillo MA,Himelman E,Shirokova N,Xie LH,Fraidenraich D,Contreras JE, JCI Insight. December 19, 2019; 4(24):2379-3708.
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients., Brenes O,Barbieri R,Vásquez M,Vindas-Smith R,Roig J,Romero A,Valle GD,Bermúdez-Guzmán L,Bertelli S,Pusch M,Morales F, Cells. February 11, 2021; 10(2):2073-4409.
Functional rice with tandemly repeated Cbl-b ubiquitin ligase inhibitory pentapeptide prevents denervation-induced muscle atrophy in vivo., Akama K,Shimajiri Y,Kainou K,Iwasaki R,Nakao R,Nikawa T,Nishikawa A, Biosci Biotechnol Biochem. May 25, 2021; 85(6):1347-6947.
The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.
Genetic models of fibrillinopathies., Summers KM, Genetics. January 3, 2024; 226(1):1943-2631.

Dystroglycan is required for proper retinal layering., Lunardi A,Cremisi F,Dente L, Dev Biol. February 15, 2006; 290(2):1095-564X.

Barrier-to-autointegration factor phosphorylation on Ser-4 regulates emerin binding to lamin A in vitro and emerin localization in vivo., Bengtsson L,Wilson KL, Mol Biol Cell. March 1, 2006; 17(3):1939-4586.

Emerin expression in early development of Xenopus laevis., Gareiss M,Eberhardt K,Krüger E,Kandert S,Böhm C,Zentgraf H,Müller CR,Dabauvalle MC, Eur J Cell Biol. March 1, 2005; 84(2-3):0171-9335.

Regulation and function of small heat shock protein genes during amphibian development., Heikkila JJ, J Cell Biochem. November 1, 2004; 93(4):0730-2312.

Amyloid beta(1-42) peptide alters the gating of human and mouse alpha-bungarotoxin-sensitive nicotinic receptors., Grassi F,Palma E,Tonini R,Amici M,Ballivet M,Eusebi F, J Physiol. February 15, 2003; 547(Pt 1):0022-3751.

Investigation of nuclear architecture with a domain-presenting expression system., Dreger CK,König AR,Spring H,Lichter P,Herrmann H, J Struct Biol. January 1, 2002; 140(1-3):1047-8477.

Expression of the gene encoding the beta-amyloid precursor protein APP in Xenopus laevis., van den Hurk WH,Bloemen M,Martens GJ, Brain Res Mol Brain Res. December 16, 2001; 97(1):0169-328X.

The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia., Saviane C,Conti F,Pusch M, J Gen Physiol. March 1, 1999; 113(3):1540-7748.

Chloride dependence of hyperpolarization-activated chloride channel gates., Pusch M,Jordt SE,Stein V,Jentsch TJ, J Physiol. March 1, 1999; 515 ( Pt 2):0022-3751.

A multiple subunit Mi-2 histone deacetylase from Xenopus laevis cofractionates with an associated Snf2 superfamily ATPase., Wade PA,Jones PL,Vermaak D,Wolffe AP, Curr Biol. July 2, 1998; 8(14):0960-9822.

Disruption of mitochondrial respiration inhibits volume-regulated anion channels and provokes neuronal cell swelling., Patel AJ,Lauritzen I,Lazdunski M,Honoré E, J Neurosci. May 1, 1998; 18(9):1529-2401.

Efficient repair of abasic sites in DNA by mitochondrial enzymes., Pinz KG,Bogenhagen DF, Mol Cell Biol. March 1, 1998; 18(3):1098-5549.

Dystrophin is replaced by utrophin in frog heart; implications for muscular dystrophy., Morris GE, Neuromuscul Disord. December 1, 1997; 7(8):0960-8966.

Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1., Schmidt-Rose T,Jentsch TJ, J Biol Chem. August 15, 1997; 272(33):1083-351X.

Molecular basis for decreased muscle chloride conductance in the myotonic goat., Beck CL,Fahlke C,George AL, Proc Natl Acad Sci U S A. October 1, 1996; 93(20):1091-6490.

Modulation of skeletal muscle sodium channels by human myotonin protein kinase., Mounsey JP,Xu P,John JE,Horne LT,Gilbert J,Roses AD,Moorman JR, J Clin Invest. May 1, 1995; 95(5):1558-8238.

Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements., Wang YH,Griffith J, Genomics. January 20, 1995; 25(2):1089-8646.

Xenopus fibrillin regulates directed convergence and extension., Skoglund P,Keller R, Dev Biol. January 15, 2007; 301(2):1095-564X.

Twenty odd years of stretch-sensitive channels., Hamill OP, Pflugers Arch. December 1, 2006; 453(3):1432-2013.

Influence of lamin A on the mechanical properties of amphibian oocyte nuclei measured by atomic force microscopy., Schäpe J,Prausse S,Radmacher M,Stick R, Biophys J. May 20, 2009; 96(10):1542-0086.

Testing the effects of FSHD candidate gene expression in vertebrate muscle development., Wuebbles RD,Long SW,Hanel ML,Jones PL, Int J Clin Exp Pathol. March 28, 2010; 3(4):1936-2625.

CNBP: a multifunctional nucleic acid chaperone involved in cell death and proliferation control., Calcaterra NB,Armas P,Weiner AM,Borgognone M, IUBMB Life. October 1, 2010; 62(10):1521-6543.

Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1., Richman DP,Yu Y,Lee TT,Tseng PY,Yu WP,Maselli RA,Tang CY,Chen TY, Neuromolecular Med. December 1, 2012; 14(4):1559-1174.

Essential roles of LEM-domain protein MAN1 during organogenesis in Xenopus laevis and overlapping functions of emerin., Reil M,Dabauvalle MC, Eur J Cell Biol. January 1, 2013; 92(8-9):0171-9335.

Activation of TRPV1 channels inhibits mechanosensitive Piezo channel activity by depleting membrane phosphoinositides., Borbiro I,Badheka D,Rohacs T, Sci Signal. February 10, 2015; 8(363):1937-9145.

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients., Vindas-Smith R,Fiore M,Vásquez M,Cuenca P,Del Valle G,Lagostena L,Gaitán-Peñas H,Estevez R,Pusch M,Morales F, Hum Mutat. January 1, 2016; 37(1):1098-1004.

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function., Gurzau AD,Chen K,Xue S,Dai W,Lucet IS,Ly TTN,Reversade B,Blewitt ME,Murphy JM, J Biol Chem. June 22, 2018; 293(25):1083-351X.

Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4., Elia N,Palmio J,Castañeda MS,Shieh PB,Quinonez M,Suominen T,Hanna MG,Männikkö R,Udd B,Cannon SC, Neurology. March 26, 2019; 92(13):1526-632X.

S-nitrosylation of connexin43 hemichannels elicits cardiac stress-induced arrhythmias in Duchenne muscular dystrophy mice., Lillo MA,Himelman E,Shirokova N,Xie LH,Fraidenraich D,Contreras JE, JCI Insight. December 19, 2019; 4(24):2379-3708.

Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients., Brenes O,Barbieri R,Vásquez M,Vindas-Smith R,Roig J,Romero A,Valle GD,Bermúdez-Guzmán L,Bertelli S,Pusch M,Morales F, Cells. February 11, 2021; 10(2):2073-4409.

Functional rice with tandemly repeated Cbl-b ubiquitin ligase inhibitory pentapeptide prevents denervation-induced muscle atrophy in vivo., Akama K,Shimajiri Y,Kainou K,Iwasaki R,Nakao R,Nikawa T,Nishikawa A, Biosci Biotechnol Biochem. May 25, 2021; 85(6):1347-6947.

The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.

Genetic models of fibrillinopathies., Summers KM, Genetics. January 3, 2024; 226(1):1943-2631.