Published in BMC Genomics on February 05, 2002
Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am J Hum Genet (2007) 1.44
The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1. Pflugers Arch (2009) 1.04
Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning. PLoS Genet (2014) 0.80
Evolutionary dynamics of metazoan TRP channels. Pflugers Arch (2015) 0.78
Identification of the gene causing mucolipidosis type IV. Nat Genet (2000) 2.87
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet (2000) 2.43
Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. Nat Genet (2001) 2.23
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Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet (2000) 2.08
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Homology-driven assembly of a sequence-ready mouse BAC contig map spanning regions related to the 46-Mb gene-rich euchromatic segments of human chromosome 19. Genomics (2001) 1.02
Reanalysis of ATP11B, a type IV P-type ATPase. J Biol Chem (2002) 0.86
Myelin/oligodendrocyte glycoprotein is alternatively spliced in humans but not mice. J Neurosci Res (1996) 0.82
A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2. Genomics (2001) 0.80
The GPR54 gene as a regulator of puberty. N Engl J Med (2003) 9.54
Bif-1 interacts with Beclin 1 through UVRAG and regulates autophagy and tumorigenesis. Nat Cell Biol (2007) 8.29
Antioxidant activity and phenolic compounds of 112 traditional Chinese medicinal plants associated with anticancer. Life Sci (2004) 5.41
Akt/protein kinase B signaling inhibitor-2, a selective small molecule inhibitor of Akt signaling with antitumor activity in cancer cells overexpressing Akt. Cancer Res (2004) 3.62
Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family. J Biol Chem (2003) 2.98
Retracted Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin. J Biol Chem (2002) 2.97
Retracted Akt phosphorylation and stabilization of X-linked inhibitor of apoptosis protein (XIAP). J Biol Chem (2003) 2.89
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 2.47
Activation and overexpression of centrosome kinase BTAK/Aurora-A in human ovarian cancer. Clin Cancer Res (2003) 2.43
Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. Proc Natl Acad Sci U S A (2004) 2.28
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med (2008) 2.10
Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia. Mol Cell (2006) 2.02
Antioxidant capacity of 26 spice extracts and characterization of their phenolic constituents. J Agric Food Chem (2005) 1.99
Twist is transcriptionally induced by activation of STAT3 and mediates STAT3 oncogenic function. J Biol Chem (2008) 1.98
Infection of human cancer cells with myxoma virus requires Akt activation via interaction with a viral ankyrin-repeat host range factor. Proc Natl Acad Sci U S A (2006) 1.96
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet (2005) 1.94
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A (2006) 1.87
New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies. Circulation (2005) 1.87
Using peripheral blood mononuclear cells to determine a gene expression profile of acute ischemic stroke: a pilot investigation. Circulation (2005) 1.79
AKT/PKB signaling mechanisms in cancer and chemoresistance. Front Biosci (2005) 1.72
Hypoglycemic and hypolipidemic effects and antioxidant activity of fruit extracts from Lycium barbarum. Life Sci (2004) 1.71
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease. Proc Natl Acad Sci U S A (2007) 1.70
Akt and CHIP coregulate tau degradation through coordinated interactions. Proc Natl Acad Sci U S A (2008) 1.66
Gelsolin regulates cardiac remodeling after myocardial infarction through DNase I-mediated apoptosis. Circ Res (2009) 1.63
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol (2006) 1.62
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol (2002) 1.60
Genetic diversity and population structure of a diverse set of rice germplasm for association mapping. Theor Appl Genet (2010) 1.59
Global defects in collagen secretion in a Mia3/TANGO1 knockout mouse. J Cell Biol (2011) 1.58
Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. J Clin Endocrinol Metab (2004) 1.57
Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression. Clin Auton Res (2005) 1.52
Antioxidant activity of betalains from plants of the amaranthaceae. J Agric Food Chem (2003) 1.52
Lysosomal exocytosis is impaired in mucolipidosis type IV. Mol Genet Metab (2006) 1.45
Improved quantitative analysis of primary bone marrow megakaryocytes utilizing imaging flow cytometry. Cytometry A (2014) 1.45
Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am J Hum Genet (2007) 1.44
Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases. J Biol Chem (2011) 1.42
Anthocyanins, flavonols, and free radical scavenging activity of Chinese bayberry (Myrica rubra) extracts and their color properties and stability. J Agric Food Chem (2005) 1.38
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. Hum Mol Genet (2004) 1.37
Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP. Mol Cell Biol (2008) 1.35
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet (2004) 1.32
Type XIV Collagen Regulates Fibrillogenesis: PREMATURE COLLAGEN FIBRIL GROWTH AND TISSUE DYSFUNCTION IN NULL MICE. J Biol Chem (2009) 1.32
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. FEBS Lett (2002) 1.31
Host-detrimental role of Esx-1-mediated inflammasome activation in mycobacterial infection. PLoS Pathog (2010) 1.31
Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV. J Neuropathol Exp Neurol (2009) 1.26
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet (2003) 1.26
Chaperone-mediated autophagy is defective in mucolipidosis type IV. J Cell Physiol (2009) 1.25
Stem cell factor receptor induces progenitor and natural killer cell-mediated cardiac survival and repair after myocardial infarction. Proc Natl Acad Sci U S A (2006) 1.23
Evolutionary association of stomatal traits with leaf vein density in Paphiopedilum, Orchidaceae. PLoS One (2012) 1.22
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. Hum Mutat (2004) 1.22
Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred. J Clin Endocrinol Metab (2002) 1.20
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. J Mol Med (Berl) (2007) 1.17
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. Biochem Biophys Res Commun (2004) 1.16
Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. Am J Psychiatry (2010) 1.16
Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease. Proc Natl Acad Sci U S A (2012) 1.15
The corticotropin-releasing hormone gene and behavioral inhibition in children at risk for panic disorder. Biol Psychiatry (2005) 1.15
Retracted Curcumin prevents and reverses murine cardiac hypertrophy. J Clin Invest (2008) 1.15
Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase. J Med Chem (2012) 1.14
Insulin-like growth factor 1 receptor enhances invasion and induces resistance to apoptosis of colon cancer cells through the Akt/Bcl-x(L) pathway. Cancer Res (2003) 1.12
A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet (2003) 1.10
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Genomics (2007) 1.08
Association of a genetic marker at the corticotropin-releasing hormone locus with behavioral inhibition. Biol Psychiatry (2003) 1.07
Macroautophagy is defective in mucolipin-1-deficient mouse neurons. Neurobiol Dis (2010) 1.07
Type XII collagen regulates osteoblast polarity and communication during bone formation. J Cell Biol (2011) 1.06
Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis. Science (2011) 1.06
Cellular and molecular mechanisms of heat stress-induced up-regulation of occludin protein expression: regulatory role of heat shock factor-1. Am J Pathol (2008) 1.05
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity. J Med Chem (2011) 1.05
Mechanism of glucocorticoid regulation of the intestinal tight junction barrier. Am J Physiol Gastrointest Liver Physiol (2006) 1.05
Household catastrophic medical expenses in eastern China: determinants and policy implications. BMC Health Serv Res (2013) 1.05
Role of X-linked inhibitor of apoptosis protein in chemoresistance in ovarian cancer: possible involvement of the phosphoinositide-3 kinase/Akt pathway. Drug Resist Updat (2002) 1.05
Mucolipidosis type IV: an update. Mol Genet Metab (2011) 1.05
Estrogen receptor α36 mediates a bone-sparing effect of 17β-estrodiol in postmenopausal women. J Bone Miner Res (2011) 1.04
The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1. Pflugers Arch (2009) 1.04
Matrix metalloproteinases in cardiovascular disease. Can J Cardiol (2006) 1.03
A mutation in SCARB2 is a modifier in Gaucher disease. Hum Mutat (2011) 1.03
Mechanism of interferon-gamma-induced increase in T84 intestinal epithelial tight junction. J Interferon Cytokine Res (2009) 1.03
Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia. Pediatr Res (2011) 1.02
Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations. Mol Genet Metab (2011) 1.02
The role of saposin C in Gaucher disease. Mol Genet Metab (2012) 1.02
Copy number variation in familial Parkinson disease. PLoS One (2011) 1.02
Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model. Acta Paediatr Suppl (2006) 1.01
Trends of increase in western medical services in traditional medicine hospitals in China. BMC Health Serv Res (2011) 1.01
Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing. Pediatr Res (2009) 1.00
Atrioventricular valve development: new perspectives on an old theme. Differentiation (2012) 0.98
Perfusing chemotherapy by percutaneous lung puncture in the treatment of extensive drug resistant pulmonary tuberculosis. J Thorac Dis (2012) 0.98
Proliferation-inhibiting and apoptosis-inducing effects of ursolic acid and oleanolic acid on multi-drug resistance cancer cells in vitro. Chin J Integr Med (2011) 0.98
Retracted A small molecule inhibits Akt through direct binding to Akt and preventing Akt membrane translocation. J Biol Chem (2010) 0.98
Association of a polymorphism near CREB1 with differential aversion processing in the insula of healthy participants. Arch Gen Psychiatry (2008) 0.97
Functional multimerization of mucolipin channel proteins. J Cell Physiol (2010) 0.97
Food traceability systems in China: The current status of and future perspectives on food supply chain databases, legal support, and technological research and support for food safety regulation. Biosci Trends (2015) 0.96
Genetic enhancement of visual learning by activation of protein kinase C pathways in small groups of rat cortical neurons. J Neurosci (2005) 0.96
Recovery of diurnal depression of leaf hydraulic conductance in a subtropical woody bamboo species: embolism refilling by nocturnal root pressure. Tree Physiol (2012) 0.95
Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators. Eur J Med Chem (2010) 0.94
Extraction and purification of squalene from amaranthus grain. J Agric Food Chem (2002) 0.93