Published in Hum Mol Genet on October 01, 1993
A stoichiometric complex of neurexins and dystroglycan in brain. J Cell Biol (2001) 2.98
Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc Natl Acad Sci U S A (1997) 1.59
The role of laminins in basement membrane function. J Anat (1998) 1.45
Integrins (alpha7beta1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophy. J Clin Invest (1997) 1.41
Mammalian alpha 1- and beta 1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH terminus. J Cell Biol (1995) 1.35
Non-muscle alpha-dystroglycan is involved in epithelial development. J Cell Biol (1995) 1.34
Identification of cell surface molecules involved in dystroglycan-independent Lassa virus cell entry. J Virol (2011) 1.23
Dystroglycan expression is frequently reduced in human breast and colon cancers and is associated with tumor progression. Am J Pathol (2003) 1.23
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. J Neurosci (2008) 1.22
Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain. J Neurosci (2010) 1.20
Increasing complexity of the dystrophin-associated protein complex. Proc Natl Acad Sci U S A (1994) 1.18
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet (1997) 1.17
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol (2004) 1.17
Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction. Dev Neurobiol (2011) 1.10
Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies. Skelet Muscle (2011) 1.08
Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. J Clin Invest (2012) 1.08
O Mannosylation of alpha-dystroglycan is essential for lymphocytic choriomeningitis virus receptor function. J Virol (2005) 1.06
Sarcospan-dependent Akt activation is required for utrophin expression and muscle regeneration. J Cell Biol (2012) 1.01
Muscle dystroglycan organizes the postsynapse and regulates presynaptic neurotransmitter release at the Drosophila neuromuscular junction. PLoS One (2008) 0.99
Laminin-induced clustering of dystroglycan on embryonic muscle cells: comparison with agrin-induced clustering. J Cell Biol (1997) 0.99
Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. Proc Natl Acad Sci U S A (1994) 0.98
Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol (1998) 0.97
Visual impairment in the absence of dystroglycan. J Neurosci (2009) 0.94
Laminin-211 in skeletal muscle function. Cell Adh Migr (2012) 0.92
Human hemorrhagic Fever causing arenaviruses: molecular mechanisms contributing to virus virulence and disease pathogenesis. Pathogens (2015) 0.92
Aquaporin expression in normal and pathological skeletal muscles: a brief review with focus on AQP4. J Biomed Biotechnol (2010) 0.91
Dystroglycan receptor is involved in integrin activation in intestinal epithelia. Am J Physiol Gastrointest Liver Physiol (2005) 0.90
Dystrophin and utrophin expression require sarcospan: loss of α7 integrin exacerbates a newly discovered muscle phenotype in sarcospan-null mice. Hum Mol Genet (2012) 0.90
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. Biochem J (2011) 0.88
Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium. Am J Hum Genet (1994) 0.87
Loss of LARGE2 disrupts functional glycosylation of α-dystroglycan in prostate cancer. J Biol Chem (2012) 0.86
The evolution of the dystroglycan complex, a major mediator of muscle integrity. Biol Open (2015) 0.85
Dystroglycan binding to α-neurexin competes with neurexophilin-1 and neuroligin in the brain. J Biol Chem (2014) 0.85
miRNA-based buffering of the cobblestone-lissencephaly-associated extracellular matrix receptor dystroglycan via its alternative 3'-UTR. Nat Commun (2014) 0.81
From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies. Skelet Muscle (2011) 0.81
Alterations of dystrophin-associated glycoproteins in the heart lacking dystrophin or dystrophin and utrophin. J Muscle Res Cell Motil (2013) 0.80
Development of rabbit monoclonal antibodies for detection of alpha-dystroglycan in normal and dystrophic tissue. PLoS One (2014) 0.79
Molecular and genetic basis of inherited nephrotic syndrome. Int J Nephrol (2011) 0.78
Duplication of the dystroglycan gene in most branches of teleost fish. BMC Mol Biol (2007) 0.78
Cell entry of lymphocytic choriomeningitis virus is restricted in myotubes. Virology (2014) 0.78
Genomic organization of the dog dystroglycan gene DAG1 locus on chromosome 20q15.1-q15.2. Genome Res (2000) 0.77
Ultrastructural localization of the C-terminus of the 43-kd dystrophin-associated glycoprotein and its relation to dystrophin in normal murine skeletal myofiber. Am J Pathol (1995) 0.77
The glycosyltransferase LARGE2 is repressed by Snail and ZEB1 in prostate cancer. Cancer Biol Ther (2015) 0.77
Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex. Anat Rec (Hoboken) (2014) 0.75
An evaluation of the evolution of the gene structure of dystroglycan. BMC Res Notes (2017) 0.75
Pathogenesis of proteinuria in idiopathic minimal change disease: molecular mechanisms. Pediatr Nephrol (2016) 0.75
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84
Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene. Science (1985) 9.12
Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Nature (1986) 7.90
Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J (1987) 7.32
Anti-inflammatory properties of cytochrome P450 epoxygenase-derived eicosanoids. Science (1999) 7.13
Membrane organization of the dystrophin-glycoprotein complex. Cell (1991) 6.64
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature (1992) 6.37
Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscle. J Cell Biol (1988) 6.30
Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Science (1986) 6.10
Identification of alpha-dystroglycan as a receptor for lymphocytic choriomeningitis virus and Lassa fever virus. Science (1998) 5.83
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol (1993) 5.73
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell (1996) 5.67
Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc Natl Acad Sci U S A (1987) 4.61
Purified ryanodine receptor from rabbit skeletal muscle is the calcium-release channel of sarcoplasmic reticulum. J Gen Physiol (1988) 4.56
Calcium channel beta-subunit binds to a conserved motif in the I-II cytoplasmic linker of the alpha 1-subunit. Nature (1994) 4.34
The naming of voltage-gated calcium channels. Neuron (1994) 4.31
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell (1993) 4.30
Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. Science (1985) 4.29
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature (1990) 4.23
Mapping of transforming growth factor alpha gene on human chromosome 2 close to the breakpoint of the Burkitt's lymphoma t(2;8) variant translocation. Cancer Res (1985) 4.17
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell (1994) 4.04
The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4. Am J Hum Genet (1985) 4.01
Negative control of bacterial DNA replication by a cell cycle regulatory protein that binds at the chromosome origin. Proc Natl Acad Sci U S A (1998) 3.85
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83
Immunosuppression and resultant viral persistence by specific viral targeting of dendritic cells. J Exp Med (2000) 3.50
Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor. Science (1987) 3.47
Generation and phenotype of a transgenic knockout mouse lacking the mercurial-insensitive water channel aquaporin-4. J Clin Invest (1997) 3.45
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test (1999) 3.42
Sequence and expression of mRNAs encoding the alpha 1 and alpha 2 subunits of a DHP-sensitive calcium channel. Science (1988) 3.38
An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins. Nature (1987) 3.33
Animal models for muscular dystrophy show different patterns of sarcolemmal disruption. J Cell Biol (1997) 3.32
The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit. Nat Genet (1998) 3.31
The mammalian sodium channel BNC1 is required for normal touch sensation. Nature (2000) 3.30
Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin. EMBO J (1988) 3.26
Purified ryanodine receptor from skeletal muscle sarcoplasmic reticulum is the Ca2+-permeable pore of the calcium release channel. J Biol Chem (1987) 3.25
Requirement for the leukocyte-specific adapter protein SLP-76 for normal T cell development. Science (1998) 3.18
A novel form of Epstein-Barr virus latency in normal B cells in vivo. Cell (1995) 3.17
Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes. Hum Genet (1978) 3.13
Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S A (1982) 3.11
Nomenclature of voltage-gated calcium channels. Neuron (2000) 3.09
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics (1978) 3.04
Severely impaired urinary concentrating ability in transgenic mice lacking aquaporin-1 water channels. J Biol Chem (1998) 3.00
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet (2007) 2.91
A system of nomenclature for band patterns of mouse chromosomes. Chromosoma (1973) 2.87
Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet (1984) 2.82
The neu gene: an erbB-homologous gene distinct from and unlinked to the gene encoding the EGF receptor. Science (1985) 2.80
Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle. Nature (1992) 2.76
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem (1991) 2.70
Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice. Hum Mol Genet (1997) 2.69
Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice. J Cell Biol (1991) 2.68
Molecular basis of muscular dystrophies. Muscle Nerve (2000) 2.65
Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Nature (1993) 2.63
Direct binding of G-protein betagamma complex to voltage-dependent calcium channels. Nature (1997) 2.60
The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Nucleic Acids Res (1987) 2.57
Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell (1999) 2.57
Ryanodine receptor of skeletal muscle is a gap junction-type channel. Science (1988) 2.56
Identification of the site of Epstein-Barr virus persistence in vivo as a resting B cell. J Virol (1997) 2.53
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Enteroviral protease 2A cleaves dystrophin: evidence of cytoskeletal disruption in an acquired cardiomyopathy. Nat Med (1999) 2.50
The ryanodine receptor/Ca2+ release channel. J Biol Chem (1993) 2.50
Structural mosaicism on the submicron scale in the plasma membrane. Biophys J (1998) 2.50
Structure and functional expression of the human macrophage inflammatory protein 1 alpha/RANTES receptor. J Exp Med (1993) 2.49
Molecular analysis and chromosomal mapping of amplified genes isolated from a transformed mouse 3T3 cell line. Somat Cell Mol Genet (1987) 2.48
Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. Am J Hum Genet (1972) 2.45
Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. J Cell Biol (1998) 2.44
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet (1999) 2.42
Staining of the Ca2+-binding proteins, calsequestrin, calmodulin, troponin C, and S-100, with the cationic carbocyanine dye "Stains-all". J Biol Chem (1983) 2.40
MCP-1 enhances excitability of nociceptive neurons in chronically compressed dorsal root ganglia. J Neurophysiol (2006) 2.38
Half chromatid mutations: transmission in humans? Am J Hum Genet (1975) 2.38
A role for dystroglycan in basement membrane assembly. Cell (1998) 2.36
Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet (1993) 2.33
Dystrophin-related protein is localized to neuromuscular junctions of adult skeletal muscle. Neuron (1991) 2.30
A regular pattern of two types of 100-residue motif in the sequence of titin. Nature (1990) 2.29
Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer. Genomics (1997) 2.28
Cloning, mapping, and characterization of activated leukocyte-cell adhesion molecule (ALCAM), a CD6 ligand. J Exp Med (1995) 2.24
Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III (1994) 2.22
Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33. Genomics (1988) 2.21
Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Genomics (1988) 2.20
Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7. EMBO J (1986) 2.19
Conservation of autosomal gene synteny groups in mouse and man. Nature (1978) 2.18
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet (1979) 2.18
The Ca2+-release channel/ryanodine receptor is localized in junctional and corbular sarcoplasmic reticulum in cardiac muscle. J Cell Biol (1993) 2.18
A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet (1998) 2.16
Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system. Proc Natl Acad Sci U S A (1997) 2.15
The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21 to qter. Hum Genet (1981) 2.14
Muscular dystrophies and the dystrophin-glycoprotein complex. Curr Opin Neurol (1997) 2.13
p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. Mol Cell Biol (1998) 2.13
Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7. Genomics (1988) 2.12
Toso, a cell surface, specific regulator of Fas-induced apoptosis in T cells. Immunity (1998) 2.11
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature (1987) 2.10
Dystrophin-glycoprotein complex is highly enriched in isolated skeletal muscle sarcolemma. J Cell Biol (1991) 2.10
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 2.08
The brain ryanodine receptor: a caffeine-sensitive calcium release channel. Neuron (1991) 2.05
Isolation, characterization, and localization of the inositol 1,4,5-trisphosphate receptor protein in Xenopus laevis oocytes. J Biol Chem (1992) 2.05
Dual function of the voltage-dependent Ca2+ channel alpha 2 delta subunit in current stimulation and subunit interaction. Neuron (1996) 2.04