Published in Nat Genet on October 01, 1995
Collagen VI related muscle disorders. J Med Genet (2005) 3.38
The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform. J Cell Biol (1997) 3.34
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet (2001) 2.66
Conditional disruption of beta 1 integrin in Schwann cells impedes interactions with axons. J Cell Biol (2002) 2.35
Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiation. J Cell Biol (1999) 2.31
Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins. EMBO J (1999) 2.31
Roles for laminin in embryogenesis: exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chain. J Cell Biol (1998) 2.31
Distribution and function of laminins in the neuromuscular system of developing, adult, and mutant mice. J Cell Biol (1997) 2.25
Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells. J Cell Biol (1999) 2.14
Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin. J Cell Biol (1998) 1.98
Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat Genet (2011) 1.89
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet (2008) 1.84
Deletion of the laminin alpha4 chain leads to impaired microvessel maturation. Mol Cell Biol (2002) 1.81
Laminin gamma1 is critical for Schwann cell differentiation, axon myelination, and regeneration in the peripheral nerve. J Cell Biol (2003) 1.78
Bridging structure with function: structural, regulatory, and developmental role of laminins. Int J Biochem Cell Biol (2007) 1.66
Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models. J Clin Invest (1998) 1.60
Schwann cell-specific ablation of laminin gamma1 causes apoptosis and prevents proliferation. J Neurosci (2005) 1.58
The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy. Proc Natl Acad Sci U S A (2007) 1.56
Laminin expression in adult and developing retinae: evidence of two novel CNS laminins. J Neurosci (2000) 1.49
The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. J Cell Biol (2013) 1.45
The role of laminins in basement membrane function. J Anat (1998) 1.45
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest (1996) 1.45
Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival. J Cell Biol (1996) 1.42
Integrins (alpha7beta1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophy. J Clin Invest (1997) 1.41
The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet (2001) 1.41
Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord (2014) 1.40
wing blister, a new Drosophila laminin alpha chain required for cell adhesion and migration during embryonic and imaginal development. J Cell Biol (1999) 1.31
Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice. Proc Natl Acad Sci U S A (2002) 1.31
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet (2005) 1.31
Patterning, prestress, and peeling dynamics of myocytes. Biophys J (2004) 1.29
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). Am J Hum Genet (1998) 1.29
Mesangial cells organize the glomerular capillaries by adhering to the G domain of laminin alpha5 in the glomerular basement membrane. J Cell Biol (2003) 1.29
The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle. J Cell Biol (2000) 1.29
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet (2002) 1.28
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat (2012) 1.25
Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Hum Mol Genet (2008) 1.23
Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse. Hum Genet (2006) 1.23
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert Rev Mol Med (2009) 1.22
Basement membrane components are key players in specialized extracellular matrices. Cell Mol Life Sci (2010) 1.22
Extracellular matrix: functions in the nervous system. Cold Spring Harb Perspect Biol (2011) 1.21
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet (2011) 1.20
Tumor necrosis factor-alpha augments matrix metalloproteinase-9 production in skeletal muscle cells through the activation of transforming growth factor-beta-activated kinase 1 (TAK1)-dependent signaling pathway. J Biol Chem (2007) 1.12
Drosophila laminins act as key regulators of basement membrane assembly and morphogenesis. Development (2009) 1.12
Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster. Am J Pathol (1998) 1.12
The congenital muscular dystrophies: recent advances and molecular insights. Pediatr Dev Pathol (2006) 1.09
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Hum Mol Genet (2011) 1.09
Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies. Skelet Muscle (2011) 1.08
Extrasynaptic location of laminin beta 2 chain in developing and adult human skeletal muscle. Am J Pathol (1997) 1.07
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet (1997) 1.07
Distinct genetic regions modify specific muscle groups in muscular dystrophy. Physiol Genomics (2010) 1.05
Laminin-111 protein therapy reduces muscle pathology and improves viability of a mouse model of merosin-deficient congenital muscular dystrophy. Am J Pathol (2012) 1.02
Congenital muscular dystrophies: a brief review. Semin Pediatr Neurol (2011) 1.02
Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI. Pediatr Radiol (2005) 0.99
The dystrophin-glycoprotein complex in the prevention of muscle damage. J Biomed Biotechnol (2011) 0.97
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am J Hum Genet (1996) 0.96
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics (2003) 0.96
The development of the myotendinous junction. A review. Muscles Ligaments Tendons J (2012) 0.96
α6β1 and α7β1 integrins are required in Schwann cells to sort axons. J Neurosci (2013) 0.95
Direct interaction of beta-dystroglycan with F-actin. Biochem J (2003) 0.95
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. Am J Hum Genet (1999) 0.94
laminin alpha 1 gene is essential for normal lens development in zebrafish. BMC Dev Biol (2006) 0.94
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am J Hum Genet (1998) 0.93
A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. PLoS One (2012) 0.92
Transgenic overexpression of the α7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A. J Cell Sci (2011) 0.92
Autophagy in skeletal muscle homeostasis and in muscular dystrophies. Cells (2012) 0.92
Laminin-211 in skeletal muscle function. Cell Adh Migr (2012) 0.92
Enzymatic self-assembly of nanostructures for theranostics. Theranostics (2012) 0.92
Laminin {alpha}1 chain corrects male infertility caused by absence of laminin {alpha}2 chain. Am J Pathol (2005) 0.90
Collagen XVII and BPAG1 expression in the retina: evidence for an anchoring complex in the central nervous system. J Comp Neurol (2005) 0.89
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. Neurogenetics (2013) 0.88
Targeting β1-integrin signaling enhances regeneration in aged and dystrophic muscle in mice. Nat Med (2016) 0.88
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. Am J Hum Genet (2000) 0.88
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. J Med Genet (1997) 0.88
Soleus muscle in glycosylation-deficient muscular dystrophy is protected from contraction-induced injury. Am J Physiol Cell Physiol (2010) 0.87
The intriguing regulators of muscle mass in sarcopenia and muscular dystrophy. Front Aging Neurosci (2014) 0.86
Zebrafish models flex their muscles to shed light on muscular dystrophies. Dis Model Mech (2012) 0.86
Laminin-111 improves muscle repair in a mouse model of merosin-deficient congenital muscular dystrophy. Hum Mol Genet (2013) 0.86
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. J Med Genet (1998) 0.86
Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-α2-deficient congenital muscular dystrophy (MDC1A). Skelet Muscle (2012) 0.86
Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathy. Neurochem Res (2008) 0.85
Ex vivo stretch reveals altered mechanical properties of isolated dystrophin-deficient hearts. PLoS One (2012) 0.85
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. Acta Neuropathol (2007) 0.85
Proregenerative properties of ECM molecules. Biomed Res Int (2013) 0.85
Animal models of muscular dystrophy. Prog Mol Biol Transl Sci (2012) 0.83
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2. BMC Res Notes (2011) 0.83
Protein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction. Mol Ther (2012) 0.83
Diseased muscles that lack dystrophin or laminin-alpha2 have altered compositions and proliferation of mononuclear cell populations. BMC Neurol (2005) 0.83
Proinflammatory signals and the loss of lymphatic vessel hyaluronan receptor-1 (LYVE-1) in the early pathogenesis of laminin alpha2-deficient skeletal muscle. J Histochem Cytochem (2011) 0.82
Identification of alpha-dystroglycan binding sequences in the laminin alpha2 chain LG4-5 module. Matrix Biol (2009) 0.82
Hanging on for the ride: adhesion to the extracellular matrix mediates cellular responses in skeletal muscle morphogenesis and disease. Dev Biol (2015) 0.81
Genome wide analysis indicates genes for basement membrane and cartilage matrix proteins as candidates for hip dysplasia in Labrador Retrievers. PLoS One (2014) 0.81
Bcl-2 inhibits the innate immune response during early pathogenesis of murine congenital muscular dystrophy. PLoS One (2011) 0.80
Partial laminin alpha2 chain restoration in alpha2 chain-deficient dy/dy mouse by primary muscle cell culture transplantation. J Cell Biol (1996) 0.80
Quantitative proteomic analysis reveals metabolic alterations, calcium dysregulation, and increased expression of extracellular matrix proteins in laminin α2 chain-deficient muscle. Mol Cell Proteomics (2014) 0.79
LG4-5 domains of laminin-211 binds alpha-dystroglycan to allow myotube attachment and prevent anoikis. J Cell Physiol (2010) 0.79
Merosin-negative congenital muscular dystrophy: Report of five cases. J Pediatr Neurosci (2016) 0.78
Merosin-deficient congenital muscular dystrophy type 1A: A case report. Exp Ther Med (2013) 0.78
The myotomal basement membrane: insight into laminin-111 function and its control by Sonic hedgehog signaling. Cell Adh Migr (2013) 0.78
Novel sequence variations in LAMA2 andSGCG genes modulating cis-acting regulatory elements and RNA secondary structure. Genet Mol Biol (2010) 0.77
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The genome sequence of Drosophila melanogaster. Science (2000) 74.32
A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature (1996) 27.61
An STS-based map of the human genome. Science (1995) 17.72
The 1993-94 Généthon human genetic linkage map. Nat Genet (1994) 17.64
A novel transcription factor, T-bet, directs Th1 lineage commitment. Cell (2000) 17.61
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence. Nat Genet (2000) 14.51
A gene map of the human genome. Science (1996) 14.32
A physical map of 30,000 human genes. Science (1998) 12.43
A physical map of the human genome. Nature (2001) 12.39
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell (1998) 9.85
The complete genome sequence of the lactic acid bacterium Lactococcus lactis ssp. lactis IL1403. Genome Res (2001) 8.63
Aberrant CpG-island methylation has non-random and tumour-type-specific patterns. Nat Genet (2000) 8.58
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature (1996) 8.02
Genome sequence and gene compaction of the eukaryote parasite Encephalitozoon cuniculi. Nature (2001) 7.53
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation (2001) 7.47
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
Isolation and characterization of type IV procollagen, laminin, and heparan sulfate proteoglycan from the EHS sarcoma. Biochemistry (1982) 6.87
Prevalence of specific language impairment in kindergarten children. J Speech Lang Hear Res (1997) 6.37
Genome sequence of the plant pathogen Ralstonia solanacearum. Nature (2002) 6.23
Metastatic potential correlates with enzymatic degradation of basement membrane collagen. Nature (1980) 5.84
Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature (1996) 5.44
Mechanisms of evolution in Rickettsia conorii and R. prowazekii. Science (2001) 5.32
An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30
Histone-like TAFs within the PCAF histone acetylase complex. Cell (1998) 5.26
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet (1999) 5.04
Negative regulation of Gcn4 and Msn2 transcription factors by Srb10 cyclin-dependent kinase. Genes Dev (2001) 4.91
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet (1998) 4.75
A radiation hybrid map of the human genome. Hum Mol Genet (1996) 4.75
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet (1999) 4.74
Cytochrome c release and apoptosis induced by mitochondrial targeting of nuclear orphan receptor TR3. Science (2000) 4.57
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature (1998) 4.47
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38
Impaired endochondral ossification and angiogenesis in mice deficient in membrane-type matrix metalloproteinase I. Proc Natl Acad Sci U S A (2000) 4.22
Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science (1990) 4.15
Expression of apoptosis-regulating proteins in chronic lymphocytic leukemia: correlations with In vitro and In vivo chemoresponses. Blood (1998) 4.07
The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death. Hum Mol Genet (2001) 4.00
Crystal structure of four-stranded Oxytricha telomeric DNA. Nature (1992) 3.96
Aromatic hydrogen bond in sequence-specific protein DNA recognition. Nat Struct Biol (1996) 3.91
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet (1997) 3.79
Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci U S A (1999) 3.77
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature (1990) 3.77
Genomic exploration of the hemiascomycetous yeasts: 1. A set of yeast species for molecular evolution studies. FEBS Lett (2000) 3.71
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet (1997) 3.68
Effectiveness of community health workers in the care of persons with diabetes. Diabet Med (2006) 3.66
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet (1998) 3.62
PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet (1997) 3.58
A presynaptic inositol-5-phosphatase. Nature (1996) 3.54
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet (2001) 3.50
Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators. Mol Cell (1999) 3.47
Concerted dephosphorylation of the transcription factor NFAT1 induces a conformational switch that regulates transcriptional activity. Mol Cell (2000) 3.44
Phosphorylation of the AMPA receptor subunit GluR2 differentially regulates its interaction with PDZ domain-containing proteins. J Neurosci (2000) 3.44
State estimates of Medicaid expenditures attributable to cigarette smoking, fiscal year 1993. Public Health Rep (1998) 3.41
Three-dimensional structure of an evolutionarily conserved N-terminal domain of syntaxin 1A. Cell (1998) 3.40
A first-generation physical map of the human genome. Nature (1993) 3.40
Exaggerated anesthetic requirements in the preferentially anesthetized brain. Anesthesiology (1993) 3.37
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet (2000) 3.35
Clustering of AMPA receptors by the synaptic PDZ domain-containing protein PICK1. Neuron (1999) 3.33
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell (2001) 3.29
Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathway. Oncogene (1999) 3.23
A method for constructing radiation hybrid maps of whole genomes. Nat Genet (1994) 3.19
New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci U S A (1998) 3.14
The complete genome sequence of Lactobacillus bulgaricus reveals extensive and ongoing reductive evolution. Proc Natl Acad Sci U S A (2006) 3.11
A herpesvirus of rhesus monkeys related to the human Kaposi's sarcoma-associated herpesvirus. J Virol (1997) 3.10
Real time detection of DNA.RNA hybridization in living cells. Proc Natl Acad Sci U S A (1998) 3.10
A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature (1986) 3.09
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
Timetables of neurogenesis in the human brain based on experimentally determined patterns in the rat. Neurotoxicology (1993) 3.00
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98
Histone chaperone Asf1 is required for histone H3 lysine 56 acetylation, a modification associated with S phase in mitosis and meiosis. Proc Natl Acad Sci U S A (2006) 2.98
Human magnetic resonance imaging at 8 T. NMR Biomed (1998) 2.96
ORegAnno: an open access database and curation system for literature-derived promoters, transcription factor binding sites and regulatory variation. Bioinformatics (2006) 2.93
Identification of a translation initiation factor 3 (eIF3) core complex, conserved in yeast and mammals, that interacts with eIF5. Mol Cell Biol (1998) 2.91
Myosin isoenzyme redistribution in chronic heart overload. Nature (1979) 2.89
Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. J Biol Chem (1993) 2.89
Two interferon mRNAs in human fibroblasts: in vitro translation and Escherichia coli cloning studies. Proc Natl Acad Sci U S A (1980) 2.88
A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science (1985) 2.88
Three myosin heavy-chain isozymes appear sequentially in rat muscle development. Nature (1981) 2.88
Therapeutic benefit of intracerebral transplantation of bone marrow stromal cells after cerebral ischemia in rats. J Neurol Sci (2001) 2.84
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet (1994) 2.83
Basal cell carcinomas in mice overexpressing Gli2 in skin. Nat Genet (2000) 2.82
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet (1993) 2.79
The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J Clin Invest (1999) 2.77
cisRED: a database system for genome-scale computational discovery of regulatory elements. Nucleic Acids Res (2006) 2.75
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet (2001) 2.72
Myoblast transplantation for heart failure. Lancet (2001) 2.71
A novel human SRB/MED-containing cofactor complex, SMCC, involved in transcription regulation. Mol Cell (1999) 2.71
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet (1994) 2.71
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol (2000) 2.71
An agent cleaving glucose-derived protein crosslinks in vitro and in vivo. Nature (1996) 2.71
New variants of a method of MRI scale standardization. IEEE Trans Med Imaging (2000) 2.69