Published in Mol Cell Biol on August 01, 2006
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The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development. Mol Cell Biol (2006) 0.95
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Disturbed cholesterol traffic but normal proteolytic function in LAMP-1/LAMP-2 double-deficient fibroblasts. Mol Biol Cell (2004) 2.29
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Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet (2012) 1.90
Models for facilitating access to patents on genetic inventions. Nat Rev Genet (2006) 1.89
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Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur J Hum Genet (2007) 1.78
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A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet (2010) 1.70
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The carbon charging of pines at the climatic treeline: a global comparison. Oecologia (2003) 1.60
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci U S A (2006) 1.56
CDG nomenclature: time for a change! Biochim Biophys Acta (2009) 1.49
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet (2005) 1.49
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Human beta-defensin 3 inhibits cell wall biosynthesis in Staphylococci. Infect Immun (2010) 1.48
Heparan sulfate 6-O-endosulfatases: discrete in vivo activities and functional co-operativity. Biochem J (2006) 1.48
A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme. Proc Natl Acad Sci U S A (2005) 1.45
Patenting and licensing in genetic testing: ethical, legal, and social issues. Eur J Hum Genet (2008) 1.45
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Hum Mol Genet (2007) 1.40
Next generation of elevated [CO2] experiments with crops: a critical investment for feeding the future world. Plant Cell Environ (2008) 1.39
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat (2005) 1.39
Patent pools and diagnostic testing. Trends Biotechnol (2006) 1.36
Molecular characterization of the human Calpha-formylglycine-generating enzyme. J Biol Chem (2005) 1.35
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34
Thyroid functions of mouse cathepsins B, K, and L. J Clin Invest (2003) 1.33
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation. Mol Genet Metab (2007) 1.33
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. Glycobiology (2003) 1.32
Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet (2009) 1.32
LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice. Hum Mol Genet (2003) 1.32
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29
Phylogenetically balanced evidence for structural and carbon isotope responses in plants along elevational gradients. Oecologia (2009) 1.26
Loss of plant biodiversity eliminates stimulatory effect of elevated CO2 on earthworm activity in grasslands. Oecologia (2013) 1.26
Mannose phosphorylation in health and disease. Eur J Cell Biol (2009) 1.24
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A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. J Biol Chem (2002) 1.22
Does carbon storage limit tree growth? New Phytol (2013) 1.22
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. Biochim Biophys Acta (2008) 1.21
Crystal structure of human pFGE, the paralog of the Calpha-formylglycine-generating enzyme. J Biol Chem (2005) 1.21
The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes. Gene (2003) 1.20
TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet (2012) 1.20
Responses of deciduous forest trees to severe drought in Central Europe. Tree Physiol (2005) 1.19
Male germ cells require polyenoic sphingolipids with complex glycosylation for completion of meiosis: a link to ceramide synthase-3. J Biol Chem (2008) 1.18
Locating the anomalous scatterer substructures in halide and sulfur phasing. Acta Crystallogr D Biol Crystallogr (2002) 1.17
Carbon fluxes to the soil in a mature temperate forest assessed by 13C isotope tracing. Oecologia (2004) 1.17
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol (2005) 1.16
Congenital disorders of glycosylation: a review. Pediatr Res (2002) 1.15
A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. J Biol Chem (2003) 1.15
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet (2007) 1.14
The PNPLA3 rs738409 148M/M genotype is a risk factor for liver cancer in alcoholic cirrhosis but shows no or weak association in hepatitis C cirrhosis. PLoS One (2011) 1.13
AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways. Traffic (2008) 1.13
Elevational species shifts in a warmer climate are overestimated when based on weather station data. Int J Biometeorol (2010) 1.12
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet (2005) 1.11
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. Hum Mol Genet (2010) 1.11
Identification of novel lysosomal matrix proteins by proteome analysis. Proteomics (2005) 1.10
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest (2002) 1.10
Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr (2005) 1.10
Patenting genes. BMJ (2004) 1.08
Sustained enhancement of photosynthesis in mature deciduous forest trees after 8 years of free air CO(2) enrichment. Planta (2010) 1.07
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet (2004) 1.07
Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law. Eur J Hum Genet (2011) 1.07
How Golgi glycosylation meets and needs trafficking: the case of the COG complex. Glycobiology (2010) 1.07
A greener Greenland? Climatic potential and long-term constraints on future expansions of trees and shrubs. Philos Trans R Soc Lond B Biol Sci (2013) 1.07
NK cells from HCV-infected patients effectively induce apoptosis of activated primary human hepatic stellate cells in a TRAIL-, FasL- and NKG2D-dependent manner. Lab Invest (2012) 1.06
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. Nat Med (2011) 1.06
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. Hum Mutat (2008) 1.06
Moving beyond photosynthesis: from carbon source to sink-driven vegetation modeling. New Phytol (2013) 1.06
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. Am J Hum Genet (2004) 1.06
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem (2011) 1.05
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The polarized epithelia-specific mu 1B-adaptin complements mu 1A-deficiency in fibroblasts. EMBO Rep (2002) 1.04
Golgi GDP-fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II. J Biol Chem (2007) 1.03