Published in Hum Mol Genet on July 01, 1999
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet (2002) 2.14
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology (2013) 2.09
Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. J Cell Biol (2001) 1.97
Characterization of palladin, a novel protein localized to stress fibers and cell adhesions. J Cell Biol (2000) 1.93
Loss of enigma homolog protein results in dilated cardiomyopathy. Circ Res (2010) 1.85
Characterization of human palladin, a microfilament-associated protein. Mol Biol Cell (2001) 1.56
Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. J Cell Biol (2000) 1.56
A promoter DNA demethylation landscape of human hematopoietic differentiation. Nucleic Acids Res (2011) 1.49
Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A (2001) 1.45
Myofibrillar myopathies. Neuromuscul Disord (2011) 1.45
Dynamics of Z-band based proteins in developing skeletal muscle cells. Cell Motil Cytoskeleton (2005) 1.43
The role of palladin in actin organization and cell motility. Eur J Cell Biol (2008) 1.22
Cardiac-specific ablation of Cypher leads to a severe form of dilated cardiomyopathy with premature death. Hum Mol Genet (2008) 1.22
A class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: a common link for Z-disc myopathies. Mol Cell Biol (2008) 1.17
Dynamic regulation of sarcomeric actin filaments in striated muscle. Cytoskeleton (Hoboken) (2010) 1.17
The interaction of titin and alpha-actinin is controlled by a phospholipid-regulated intramolecular pseudoligand mechanism. EMBO J (2000) 1.15
Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human disease. Cell Motil Cytoskeleton (2009) 1.02
Caenorhabditis elegans kettin, a large immunoglobulin-like repeat protein, binds to filamentous actin and provides mechanical stability to the contractile apparatuses in body wall muscle. Mol Biol Cell (2006) 1.01
Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. Mol Cell Biol (2006) 1.00
DIM-1, a novel immunoglobulin superfamily protein in Caenorhabditis elegans, is necessary for maintaining bodywall muscle integrity. Genetics (2003) 0.96
Identification of novel tissue-specific genes by analysis of microarray databases: a human and mouse model. PLoS One (2013) 0.95
myotilin Mutation found in second pedigree with LGMD1A. Am J Hum Genet (2002) 0.94
Fishing out proteins that bind to titin. J Cell Biol (2001) 0.92
Sarcomeric pattern formation by actin cluster coalescence. PLoS Comput Biol (2012) 0.88
Translation elongation factor eEF1A binds to a novel myosin binding protein-C-like protein. J Cell Biochem (2008) 0.87
The actin associated protein palladin in smooth muscle and in the development of diseases of the cardiovasculature and in cancer. J Muscle Res Cell Motil (2011) 0.87
Structure and function of palladin's actin binding domain. J Mol Biol (2013) 0.83
Actin cross-linking protein palladin and spermatogenesis. Spermatogenesis (2013) 0.82
Myotilin dynamics in cardiac and skeletal muscle cells. Cytoskeleton (Hoboken) (2011) 0.81
Maintenance of muscle mass, fiber size, and contractile function in mice lacking the Z-disc protein myotilin. Ups J Med Sci (2009) 0.81
Structural characterization of the interactions between palladin and α-actinin. J Mol Biol (2011) 0.81
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. J Biol Chem (2014) 0.81
Palladin regulation of the actin structures needed for cancer invasion. Cell Adh Migr (2013) 0.79
RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies. Curr Gene Ther (2012) 0.79
A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1. PLoS One (2012) 0.79
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? J Neurol Sci (2008) 0.79
Levels of inflammation and oxidative stress, and a role for taurine in dystropathology of the Golden Retriever Muscular Dystrophy dog model for Duchenne Muscular Dystrophy. Redox Biol (2016) 0.78
Actin-induced dimerization of palladin promotes actin-bundling. Protein Sci (2014) 0.78
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. Acta Neuropathol Commun (2016) 0.78
Expression of myotilin during chicken development. Anat Rec (Hoboken) (2014) 0.78
Novel recessive myotilin mutation causes severe myofibrillar myopathy. Neurogenetics (2014) 0.76
Solution structure of the first immunoglobulin domain of human myotilin. J Biomol NMR (2009) 0.76
Protein differences between human trapezius and vastus lateralis muscles determined with a proteomic approach. BMC Musculoskelet Disord (2011) 0.76
Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains. Sci Rep (2017) 0.75
Enhanced evaluation of selective androgen receptor modulators in vivo. Andrology (2012) 0.75
Proteostasis and Diseases of the Motor Unit. Front Mol Neurosci (2016) 0.75
Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet (2000) 5.65
Microsatellite diversity and the demographic history of modern humans. Proc Natl Acad Sci U S A (1997) 4.96
Direct selection: a method for the isolation of cDNAs encoded by large genomic regions. Proc Natl Acad Sci U S A (1991) 3.66
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet (1996) 2.70
Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology (2000) 2.25
X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Res (1997) 2.06
ICAM-2 redistributed by ezrin as a target for killer cells. Nature (1996) 2.04
Association of ezrin with intercellular adhesion molecule-1 and -2 (ICAM-1 and ICAM-2). Regulation by phosphatidylinositol 4, 5-bisphosphate. J Biol Chem (1998) 2.01
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest (2000) 1.97
Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet (1997) 1.82
Data mining applied to linkage disequilibrium mapping. Am J Hum Genet (2000) 1.78
The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci U S A (1997) 1.77
Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol (1999) 1.68
Polarization of NK cell cytoskeleton upon conjugation with sensitive target cells. J Immunol (1983) 1.67
Mechanisms for regulating expression of membrane isoforms of Fc gamma RIII (CD16). Science (1989) 1.63
Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. Genomics (2000) 1.57
Characterization of human palladin, a microfilament-associated protein. Mol Biol Cell (2001) 1.56
Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. J Cell Biol (2000) 1.56
Adhesion molecule expression in symptomatic and asymptomatic carotid stenosis. Neurology (2003) 1.47
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. Am J Physiol (1999) 1.47
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet (1995) 1.46
Patterns of matrix metalloproteinase and TIMP-1 expression in chronic and normally healing human cutaneous wounds. Br J Dermatol (1996) 1.44
DYX1C1 functions in neuronal migration in developing neocortex. Neuroscience (2006) 1.42
The cytotoxic activity of human natural killer cells requires an intact secretory apparatus. Cell Immunol (1981) 1.40
Phenylketonuria screening registry as a resource for population genetic studies. J Med Genet (2005) 1.38
Distinct expression profiles of stromelysin-2 (MMP-10), collagenase-3 (MMP-13), macrophage metalloelastase (MMP-12), and tissue inhibitor of metalloproteinases-3 (TIMP-3) in intestinal ulcerations. Am J Pathol (1998) 1.38
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet (1998) 1.37
A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population. Nat Genet (2001) 1.36
A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32. J Med Genet (2003) 1.35
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. FEBS Lett (1990) 1.35
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet (1992) 1.35
Neurofibromatosis 2 tumor suppressor protein colocalizes with ezrin and CD44 and associates with actin-containing cytoskeleton. J Cell Sci (1997) 1.33
A dominant gene for developmental dyslexia on chromosome 3. J Med Genet (2001) 1.33
Endothelial ICAM-1 expression associated with inflammatory cell response in human ischemic stroke. Circulation (1996) 1.30
Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum Mol Genet (1999) 1.29
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum Mutat (1998) 1.28
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes (1999) 1.27
Evolution of cerebral tumor necrosis factor-alpha production during human ischemic stroke. Stroke (2001) 1.27
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Eur J Hum Genet (2000) 1.27
Gene mapping in isolated populations: new roles for old friends? Hum Hered (2000) 1.23
Ezrin as a prognostic indicator and its relationship to tumor characteristics in uveal malignant melanoma. Invest Ophthalmol Vis Sci (2001) 1.22
Homotypic and heterotypic interaction of the neurofibromatosis 2 tumor suppressor protein merlin and the ERM protein ezrin. J Cell Sci (1999) 1.22
Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28. Genomics (1991) 1.21
The ezrin protein family: membrane-cytoskeleton interactions and disease associations. Curr Opin Cell Biol (1997) 1.21
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet (2000) 1.20
Expression of vascular endothelial growth factor receptors 1, 2 and 3 in placentas from normal and complicated pregnancies. Mol Hum Reprod (2001) 1.20
Global analysis of uniparental disomy using high density genotyping arrays. J Med Genet (2005) 1.18
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet (1998) 1.18
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. Am J Hum Genet (1998) 1.17
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet (2001) 1.14
Cusp patterning defect in Tabby mouse teeth and its partial rescue by FGF. Dev Biol (1999) 1.14
Monosomy 7 in granulocytes and monocytes in myelodysplastic syndrome. N Engl J Med (1987) 1.14
Natural killer cell and granulocyte Fc gamma receptor III (CD16) differ in membrane anchor and signal transduction. J Immunol (1989) 1.13
Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. Hum Mol Genet (2001) 1.13
Simplified template preparation and improved direct sequencing using Taq polymerase. PCR Methods Appl (1992) 1.11
Complement activation in the central nervous system following blood-brain barrier damage in man. Ann Neurol (1996) 1.11
Haplotype analysis to determine the position of a mutation among closely linked DNA markers. Hum Mol Genet (1993) 1.11
Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics (1997) 1.10
Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. Eur J Hum Genet (2001) 1.07
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet (1994) 1.07
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet (1997) 1.07
EGFR gene copy number assessment from areas with highest EGFR expression predicts response to anti-EGFR therapy in colorectal cancer. Br J Cancer (2011) 1.06
Two translocations of chromosome 15q associated with dyslexia. J Med Genet (2000) 1.04
Introduction of complementary foods in infancy and atopic sensitization at the age of 5 years: timing and food diversity in a Finnish birth cohort. Allergy (2013) 1.04
Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1. Hum Mol Genet (1996) 1.04
Ordered shotgun sequencing, a strategy for integrated mapping and sequencing of YAC clones. Genomics (1993) 1.04
Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma. Clin Exp Allergy (2007) 1.03
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. Histochem Cell Biol (2000) 1.03
Protein kinase A-mediated phosphorylation of the NF2 tumor suppressor protein merlin at serine 10 affects the actin cytoskeleton. Oncogene (2007) 1.02
Influence of male sex and parental allergic disease on childhood wheezing: role of interactions. Clin Exp Allergy (2004) 1.02
Factors predisposing to acute and recurrent bacterial non-necrotizing cellulitis in hospitalized patients: a prospective case-control study. Clin Microbiol Infect (2009) 1.02
Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. Genomics (1992) 1.02
Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA. Genomics (2001) 1.01
A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele. Hum Mol Genet (2000) 1.01
Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion. Mech Dev (1999) 1.00
Differential cellular expression of tumor necrosis factor-alpha and Type I tumor necrosis factor receptor after transient global forebrain ischemia. J Neurol Sci (2001) 0.99
VEGF, its receptors and the tie receptors in recurrent miscarriage. Mol Hum Reprod (2000) 0.99
Binding of the cytoplasmic domain of intercellular adhesion molecule-2 (ICAM-2) to alpha-actinin. J Biol Chem (1996) 0.99
Familial systemic lupus erythematosus in Finland. J Rheumatol (2001) 0.99
SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. J Histochem Cytochem (2001) 0.99
Upregulation of CFTR expression but not SLC26A3 and SLC9A3 in ulcerative colitis. Am J Physiol Gastrointest Liver Physiol (2002) 0.98
Human TIMP-3 is expressed during fetal development, hair growth cycle, and cancer progression. J Histochem Cytochem (1998) 0.98
Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea. Mol Hum Reprod (2006) 0.98
Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis. Ann Hum Genet (2008) 0.97
Stromelysin-2 is upregulated during normal wound repair and is induced by cytokines. J Invest Dermatol (2000) 0.97
Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. Arch Dermatol (2000) 0.96
Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach. Oncogene (2007) 0.96
Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed. Am J Hum Genet (1996) 0.96
Concomitant DNA copy number amplification at 17q and 22q in dermatofibrosarcoma protuberans. Cytogenet Cell Genet (2001) 0.96
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. Genomics (1992) 0.95
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Hum Mutat (2001) 0.95
Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families. Eur J Hum Genet (2001) 0.95
NANOG priming before full reprogramming may generate germ cell tumours. Eur Cell Mater (2011) 0.95