Genomes and Genes
Experts and Doctors on base sequence in Leuven, Flanders, Belgium
Locale: Leuven, Flanders, Belgium
Topic: base sequence
Publications104 found, 100 shown here
- Bers K, Sniegowski K, Albers P, Breugelmans P, Hendrickx L, De Mot R, et al. A molecular toolbox to estimate the number and diversity of Variovorax in the environment: application in soils treated with the phenylurea herbicide linuron. FEMS Microbiol Ecol. 2011;76:14-25 pubmed publisher..Our data support the hypothesis that the genus Variovorax is involved in linuron degradation in linuron-treated agricultural soils. ..
- Tsonos J, Adriaenssens E, Klumpp J, Hernalsteens J, Lavigne R, De Greve H. Complete genome sequence of the novel Escherichia coli phage phAPEC8. J Virol. 2012;86:13117-8 pubmed publisher..As such, phAPEC8 represents a novel, phylogenetically distinct clade within the Myoviridae, with molecular properties suitable for phage therapy applications...
- Zlateva K, Van Ranst M. Detection of subgroup B respiratory syncytial virus in the cerebrospinal fluid of a patient with respiratory syncytial virus pneumonia. Pediatr Infect Dis J. 2004;23:1065-6 pubmed..The infant was diagnosed with bilateral pneumonia and had a febrile seizure. The patient recovered uneventfully after 9 days in the hospital. ..
- De Keersmaecker K, Graux C, Odero M, Mentens N, Somers R, Maertens J, et al. Fusion of EML1 to ABL1 in T-cell acute lymphoblastic leukemia with cryptic t(9;14)(q34;q32). Blood. 2005;105:4849-52 pubmed..These data further demonstrate the involvement of ABL1 fusions in the pathogenesis of T-ALL and identify EML1-ABL1 as a novel therapeutic target of imatinib. ..
- Debeer P, Huysmans C, Van de Ven W, Fryns J, Devriendt K. Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation. Am J Med Genet A. 2005;134:318-20 pubmed..The parents were clinically unaffected, and these two mutations were not detected in their white blood cells or buccal mucosa. This indicates the presence of gonadal mosaicism or a low level of somatic mosaicism in one of the parents...
- Henry I, Carpentier S, Pampurova S, Van Hoylandt A, Panis B, Swennen R, et al. Structure and regulation of the Asr gene family in banana. Planta. 2011;234:785-98 pubmed publisher..mASR3 exhibited the most variation both in terms of amino acid sequence and expression pattern, making it the most promising candidate for further functional study and use in crop improvement...
- Van Wielendaele P, Dillen S, Marchal E, Badisco L, Vanden Broeck J. CRF-like diuretic hormone negatively affects both feeding and reproduction in the desert locust, Schistocerca gregaria. PLoS ONE. 2012;7:e31425 pubmed publisher..Our discussion about the functional relationship between CRF/DH and OMP led to the hypothesis that OMP may possibly act as a monitoring peptide that can elicit negative feedback effects. ..
- Coemans B, Matsumura H, Terauchi R, Remy S, Swennen R, Sági L. SuperSAGE combined with PCR walking allows global gene expression profiling of banana (Musa acuminata), a non-model organism. Theor Appl Genet. 2005;111:1118-26 pubmed..SuperSAGE in conjunction with 3'RACE and TAIL-PCR will be a powerful tool for transcriptomics of non-model, but otherwise important organisms. ..
- Vandermarliere E, Bourgois T, Rombouts S, Van Campenhout S, Volckaert G, Strelkov S, et al. Crystallographic analysis shows substrate binding at the -3 to +1 active-site subsites and at the surface of glycoside hydrolase family 11 endo-1,4-beta-xylanases. Biochem J. 2008;410:71-9 pubmed..subtilis and A. niger xylanases was observed. This extra binding site may have a function similar to the separate carbohydrate-binding modules of other glycoside hydrolase families. ..
- Lescrinier E, Dyubankova N, Nauwelaerts K, Jones R, Herdewijn P. Structure determination of the top-loop of the conserved 3'-terminal secondary structure in the genome of flaviviruses. Chembiochem. 2010;11:1404-12 pubmed publisher..The observed differences cannot be predicted based on sequence analysis. A different biology can be correlated with a different RNA tertiary structure. The underlying biological mechanism, however, remains to be studied. ..
- Badisco L, Huybrechts J, Simonet G, Verlinden H, Marchal E, Huybrechts R, et al. Transcriptome analysis of the desert locust central nervous system: production and annotation of a Schistocerca gregaria EST database. PLoS ONE. 2011;6:e17274 pubmed publisher..However, molecular studies in locusts are hampered by the fact that genome/transcriptome sequence information available for this branch of insects is still limited...
- Vekemans D, Proost S, Vanneste K, Coenen H, Viaene T, Ruelens P, et al. Gamma paleohexaploidy in the stem lineage of core eudicots: significance for MADS-box gene and species diversification. Mol Biol Evol. 2012;29:3793-806 pubmed publisher..We consider that the traits generated from this potential characterize extant core eudicots both chemically and morphologically. ..
- Franceschini L, Soskine M, Biesemans A, Maglia G. A nanopore machine promotes the vectorial transport of DNA across membranes. Nat Commun. 2013;4:2415 pubmed publisher..This nanopore machine might be used to separate or concentrate nucleic acids or to transport genetic information across biological membranes. ..
- Duitama J, Zablotskaya A, Gemayel R, Jansen A, Belet S, Vermeesch J, et al. Large-scale analysis of tandem repeat variability in the human genome. Nucleic Acids Res. 2014;42:5728-41 pubmed publisher..The method opens new routes to look at this underappreciated type of genetic variability, including the identification of novel disease-related repeats. ..
- Rice G, del Toro Duany Y, Jenkinson E, Forte G, Anderson B, Ariaudo G, et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014;46:503-509 pubmed publisher..Our results demonstrate that aberrant sensing of nucleic acids can cause immune upregulation. ..
- Mirzaa G, Parry D, Fry A, Giamanco K, Schwartzentruber J, Vanstone M, et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014;46:510-515 pubmed publisher..These observations suggest that cyclin D2 stabilization, caused by CCND2 mutation or PI3K-AKT activation, is a unifying mechanism in PI3K-AKT-related megalencephaly syndromes. ..
- Vanrompay D, Cox E, Mast J, Goddeeris B, Volckaert G. High-level expression of Chlamydia psittaci major outer membrane protein in COS cells and in skeletal muscles of turkeys. Infect Immun. 1998;66:5494-500 pubmed..Intramuscular administration of pcDNA1/MOMP in specific-pathogen-free turkeys resulted in local expression of rMOMP in its native conformation, after which anti-MOMP antibodies appeared in the serum. ..
- Remy S, Thiry E, Coemans B, Windelinckx S, Swennen R, Sági L. Improved T-DNA vector for tagging plant promoters via high-throughput luciferase screening. Biotechniques. 2005;38:763-70 pubmed..5% in 19,000 cell colonies screened. Detailed molecular analysis of flanking DNA sequences in a tagged line revealed insertion of the luciferase tag in a novel gene with near-constitutive expression. ..
- Pals K, Vankelecom H, Denef C. Triiodothyronine expands the lactotroph and maintains the lactosomatotroph population, whereas thyrotrophin-releasing hormone augments thyrotroph abundance in aggregate cell cultures of postnatal rat pituitary gland. J Neuroendocrinol. 2006;18:203-16 pubmed
- Kalender Atak Z, De Keersmaecker K, Gianfelici V, Geerdens E, Vandepoel R, Pauwels D, et al. High accuracy mutation detection in leukemia on a selected panel of cancer genes. PLoS ONE. 2012;7:e38463 pubmed publisher..In conclusion, we established an optimized analysis pipeline for Roche/454 data that can be applied to accurately detect gene mutations in cancer, which led to the identification of several new candidate T-ALL driver mutations. ..
- Sourbron J, Schneider H, KecskÃ©s A, Liu Y, Buening E, Lagae L, et al. Serotonergic Modulation as Effective Treatment for Dravet Syndrome in a Zebrafish Mutant Model. ACS Chem Neurosci. 2016;7:588-98 pubmed publisher..Modulating certain serotonergic receptors was shown to effectively reduce seizures. Our findings therefore open new avenues for the development of future novel DS therapeutics. ..
- Toth Zsamboki E, Oury C, Watanabe H, Nilius B, Vermylen J, Hoylaerts M. The intracellular tyrosine residues of the ATP-gated P2X(1) ion channel are essential for its function. FEBS Lett. 2002;524:15-9 pubmed..Thus, Y16, Y362, Y363 and Y370 are required for the appropriate three-dimensional structure and function of the intracellular P2X(1) domains. ..
- Vantieghem K, De Haes P, Bouillon R, Segaert S. Dermal fibroblasts pretreated with a sterol Delta7-reductase inhibitor produce 25-hydroxyvitamin D3 upon UVB irradiation. J Photochem Photobiol B. 2006;85:72-8 pubmed..The physiological relevance of dermal vitamin D3 photoproduction and its subsequent conversion into 25OHD3 remains elusive. ..
- Cools J, Bilhou Nabera C, Wlodarska I, Cabrol C, Talmant P, Bernard P, et al. Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13). Blood. 1999;94:1820-4 pubmed
- Van Hellemont R, Blomme T, Van de Peer Y, Marchal K. Divergence of regulatory sequences in duplicated fish genes. Genome Dyn. 2007;3:81-100 pubmed publisher..In this study we used in silico motif detection to show how alterations in the composition of regulatory motifs between paralogous genes in zebrafish and Tetraodon might reflect the functional divergence of duplicates. ..
- Backx L, Seuntjens E, Devriendt K, Vermeesch J, Van Esch H. A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum. Cytogenet Genome Res. 2011;132:135-43 pubmed publisher..Additional experimental results suggest that ARID1B, a gene involved in chromatin remodeling, constitutes a good candidate for the central nervous system phenotype present in the patient. ..
- De Nys K, Meyhi E, Mannaerts G, Fransen M, Van Veldhoven P. Characterisation of human peroxisomal 2,4-dienoyl-CoA reductase. Biochim Biophys Acta. 2001;1533:66-72 pubmed..Hence, the reductase does not seem to constitute a rate limiting step in the peroxisomal degradation of docosahexaenoic acid. The reduction of docosaheptaenoyl-CoA, however, was severely decreased in the presence of albumin. ..
- Denayer E, Parret A, Chmara M, Schubbert S, Vogels A, Devriendt K, et al. Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation. Hum Mutat. 2008;29:232-9 pubmed..Together, these data show that a RAS mutation that only perturbs guanine nucleotide binding has similar functional consequences as mutations that impair GTP hydrolysis and causes human disease. ..
- Janssens S, Viaene T, Huysmans S, Smets E, Geuten K. Selection on length mutations after frameshift can explain the origin and retention of the AP3/DEF-like paralogues in Impatiens. J Mol Evol. 2008;66:424-35 pubmed publisher..It is rather the length of the C-terminal domain that either is strictly conserved or varies strongly. This suggests a role for the length of the C-terminal domain in the retention of duplicated genes. ..
- Meysman P, Sánchez Rodríguez A, Fu Q, Marchal K, Engelen K. Expression divergence between Escherichia coli and Salmonella enterica serovar Typhimurium reflects their lifestyles. Mol Biol Evol. 2013;30:1302-14 pubmed publisher..coli and S. Typhimurium, consisting of highly conserved orthologs, have been tuned to help accommodate the differences in lifestyle and the pathogenic potential of Salmonella. ..
- Eggermont J, Wuytack F, De Jaegere S, Nelles L, Casteels R. Evidence for two isoforms of the endoplasmic-reticulum Ca2+ pump in pig smooth muscle. Biochem J. 1989;260:757-61 pubmed
- Petit M, Mols R, Schoenmakers E, Mandahl N, Van de Ven W. LPP, the preferred fusion partner gene of HMGIC in lipomas, is a novel member of the LIM protein gene family. Genomics. 1996;36:118-29 pubmed..Two alternative HMGIC/LPP hybrid transcripts have been detected; the difference between them is mainly the presence of either two or three LIM domains in the predicted HMGI-C/LPP fusion proteins. ..
- Van Loock M, Vanrompay D, Herrmann B, Vander Stappen J, Volckaert G, Goddeeris B, et al. Missing links in the divergence of Chlamydophila abortus from Chlamydophila psittaci. Int J Syst Evol Microbiol. 2003;53:761-70 pubmed..abortus diverged from C. psittaci, and so strain R54 was designated a C. psittaci strain. It is recommended that characterization of C. psittaci and C. abortus strains should utilize more than a single method and more than a single gene...
- Lavigne R, Burkal tseva M, Robben J, Sykilinda N, Kurochkina L, Grymonprez B, et al. The genome of bacteriophage phiKMV, a T7-like virus infecting Pseudomonas aeruginosa. Virology. 2003;312:49-59 pubmed..Also, the strong virulence toward many clinical P. aeruginosa isolates and a short replication time make phiKMV attractive for phage therapy or a potential source for antimicrobial proteins...
- Reeve S, Lin X, Sahin B, Jiang F, Yao A, Liu Z, et al. Mutational analysis establishes a critical role for the N terminus of fragile X mental retardation protein FMRP. J Neurosci. 2008;28:3221-6 pubmed publisher..Thus, our mutational analyses establish that the N terminus of FMRP is critical for its neuronal function. ..
- Cassano M, Dellavalle A, Tedesco F, Quattrocelli M, Crippa S, Ronzoni F, et al. Alpha sarcoglycan is required for FGF-dependent myogenic progenitor cell proliferation in vitro and in vivo. Development. 2011;138:4523-33 pubmed publisher..The reduced proliferative ability of Sgca-null MPCs explains, at least in part, the severity of this muscular dystrophy and also why wild-type donor progenitor cells engraft efficiently and consequently ameliorate disease. ..
- Van Hoecke A, Schoonaert L, Lemmens R, Timmers M, Staats K, Laird A, et al. EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med. 2012;18:1418-22 pubmed..This suggests that Epha4 generically modulates the vulnerability of (motor) neurons to axonal degeneration and may represent a new target for therapeutic intervention. ..
- Papaemmanuil E, Rapado I, Li Y, Potter N, Wedge D, Tubio J, et al. RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia. Nat Genet. 2014;46:116-25 pubmed publisher..Thus, a remarkably parsimonious mutational process transforms ETV6-RUNX1-positive lymphoblasts, targeting the promoters, enhancers and first exons of genes that normally regulate B cell differentiation. ..
- Dewerchin M, Nuffelen A, Wallays G, Bouche A, Moons L, Carmeliet P, et al. Generation and characterization of urokinase receptor-deficient mice. J Clin Invest. 1996;97:870-8 pubmed..u-PAR-1- peritoneal macrophages had a threefold decreased initial rate of u-PA-mediated plasminogen activation in vitro but degraded extracellular matrix proteins in vitro as efficiently as u-PAR-1- macrophages. ..
- Dode L, De Greef C, Mountian I, Attard M, Town M, Casteels R, et al. Structure of the human sarco/endoplasmic reticulum Ca2+-ATPase 3 gene. Promoter analysis and alternative splicing of the SERCA3 pre-mRNA. J Biol Chem. 1998;273:13982-94 pubmed..Expression of the mouse SERCA3 isoforms in COS-1 cells demonstrated their ability to function as active pumps, although with different apparent affinities for Ca2+. ..
- Matthijs G, Schollen E, Heykants L, Grunewald S. Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). Mol Genet Metab. 1999;68:220-6 pubmed
- Van Poyer W, Torfs H, Poels J, Swinnen E, De Loof A, Akerman K, et al. Phenolamine-dependent adenylyl cyclase activation in Drosophila Schneider 2 cells. Insect Biochem Mol Biol. 2001;31:333-8 pubmed..This receptor was previously shown to be positively coupled to adenylyl cyclase. ..
- Voros G, Sandy J, Collen D, Lijnen H. Expression of aggrecan(ases) during murine preadipocyte differentiation and adipose tissue development. Biochim Biophys Acta. 2006;1760:1837-44 pubmed..Proteoglycans in the extracellular matrix of adipose tissue, such as aggrecan, may contribute to the regulation of lipid uptake and obesity in mice. ..
- Matthijnssens J, Heylen E, Zeller M, Rahman M, Lemey P, Van Ranst M. Phylodynamic analyses of rotavirus genotypes G9 and G12 underscore their potential for swift global spread. Mol Biol Evol. 2010;27:2431-6 pubmed publisher..g., a vaccine escape mutant) can spread worldwide in little more than a decade. These results re-emphasize the need for thorough and continued RV surveillance in order to detect such potential spreading events at an early stage. ..
- Schulz J, Ceulemans H, Caussinus E, Baietti M, Affolter M, Hassan B, et al. Drosophila syndecan regulates tracheal cell migration by stabilizing Robo levels. EMBO Rep. 2011;12:1039-46 pubmed publisher..We conclude that Sdc cell autonomously regulates Slit/Robo2 signalling in tracheal cells to guarantee ordered directional migration and branch fusion. ..
- Baens M, Marynen P. A human homologue (BICD1) of the Drosophila bicaudal-D gene. Genomics. 1997;45:601-6 pubmed..The conserved structural characteristics of the BICD1 protein and its expression in muscle and especially brain suggest that BICD1 is a component of a cytoskeleton-based mRNA sorting mechanism conserved during evolution. ..
- Huang Z, Depoortere I, De Clercq P, Peeters T. Sequence and characterization of cDNA encoding the motilin precursor from chicken, dog, cow and horse. Evidence of mosaic evolution in prepromotilin. Gene. 1999;240:217-26 pubmed..Our study demonstrates that the N- and C-terminal regions of the motilin precursor have evolved at different rates, which is evidence for 'mosaic evolution'. ..
- Van Veldhoven P, Gijsbers S, Mannaerts G, Vermeesch J, Brys V. Human sphingosine-1-phosphate lyase: cDNA cloning, functional expression studies and mapping to chromosome 10q22(1). Biochim Biophys Acta. 2000;1487:128-34 pubmed..Northern analysis showed the presence of rare large-sized mRNAs of 6.7, 5.8 and 4 kb and the highest expression in liver. By fluorescent in situ hybridization, the gene was mapped to chromosome 10q22. ..
- Lebeer S, De Keersmaecker S, Verhoeven T, Fadda A, Marchal K, Vanderleyden J. Functional analysis of luxS in the probiotic strain Lactobacillus rhamnosus GG reveals a central metabolic role important for growth and biofilm formation. J Bacteriol. 2007;189:860-71 pubmed publisher..Moreover, our data indicate that suppressor mutations are likely to occur in luxS mutants of L. rhamnosus GG. Therefore, results of luxS-related studies should be carefully interpreted...
- Nauwelaerts K, Fisher M, Froeyen M, Lescrinier E, Aerschot A, Xu D, et al. Structural characterization and biological evaluation of small interfering RNAs containing cyclohexenyl nucleosides. J Am Chem Soc. 2007;129:9340-8 pubmed..This was tested by targeting inhibition of expression of the MDR1 gene with accompanying changes in P-glycoprotein expression, drug transport, and drug resistance. ..
- Thienpont B, Breckpot J, Holvoet M, Vermeesch J, Devriendt K. A microduplication of CBP in a patient with mental retardation and a congenital heart defect. Am J Med Genet A. 2007;143A:2160-4 pubmed..This finding implicates CBP as one of the causative genes for the trisomy 16p13 syndrome, and indicates this is a contiguous gene syndrome. ..
- Clements J, Hens K, Francis C, Schellens A, Callaerts P. Conserved role for the Drosophila Pax6 homolog Eyeless in differentiation and function of insulin-producing neurons. Proc Natl Acad Sci U S A. 2008;105:16183-8 pubmed publisher..We propose that Eyeless has an evolutionarily conserved role in IPCs with remarkable similarities to the role of vertebrate Pax6 in beta cells of the pancreas. ..
- Baron S, Vangheluwe P, Sepúlveda M, Wuytack F, Raeymaekers L, Vanoevelen J. The secretory pathway Ca(2+)-ATPase 1 is associated with cholesterol-rich microdomains of human colon adenocarcinoma cells. Biochim Biophys Acta. 2010;1798:1512-21 pubmed publisher..From these results we conclude that SPCA1 is associated with cholesterol-rich domains of HT29 cells and that the cholesterol-rich environment is essential for the functioning of the pump. ..
- Janssen S, Laermans J, Verhulst P, Thijs T, Tack J, Depoortere I. Bitter taste receptors and ?-gustducin regulate the secretion of ghrelin with functional effects on food intake and gastric emptying. Proc Natl Acad Sci U S A. 2011;108:2094-9 pubmed publisher..Modulation of endogenous ghrelin levels by tastants may provide novel therapeutic applications for the treatment of weight -and gastrointestinal motility disorders. ..
- Vandenbroeck K, Willems L, Billiau A, Opdenakker G, Huybrechts R. Glycoform heterogeneity of porcine interferon-gamma expressed in Sf9 cells. Lymphokine Cytokine Res. 1994;13:253-8 pubmed..Their affinity for the larger glycoforms of PoIFN-gamma suggests that the biosynthetic pathways in Sf9 cells are able to modify oligomannose structures to complex or hybrid glycans...
- Carmeliet P, Ferreira V, Breier G, Pollefeyt S, Kieckens L, Gertsenstein M, et al. Abnormal blood vessel development and lethality in embryos lacking a single VEGF allele. Nature. 1996;380:435-9 pubmed
- Kas K, Lemahieu V, Meyen E, Van de Ven W, Merregaert J. Isolation, cDNA, and genomic structure of a conserved gene (NOF) at chromosome 11q13 next to FAU and oriented in the opposite transcriptional orientation. Genomics. 1996;34:433-6 pubmed..Moreover, the mouse ESTs map in the same organization, closely linked to the FAU gene, in the mouse genome. NOF, however, is not affected by the t(11;17)(q13;q21) chromosomal translocation. ..
- van Brussel M, Goubau P, Rousseau R, Desmyter J, Vandamme A. Complete nucleotide sequence of the new simian T-lymphotropic virus, STLV-PH969 from a Hamadryas baboon, and unusual features of its long terminal repeat. J Virol. 1997;71:5464-72 pubmed..We conclude that STLV-PH969 has all the genes and genomic regions to suggest a replication cycle comparable to that of HTLV-1 and HTLV-2...
- Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G. GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics. 1998;53:1-11 pubmed..The tight clustering of GPC3 and GPC4, with deletions that occasionally affect both genes, may be relevant for explaining the variability of the SGBS phenotype. ..
- Vastmans K, Froeyen M, Kerremans L, Pochet S, Herdewijn P. Reverse transcriptase incorporation of 1,5-anhydrohexitol nucleotides. Nucleic Acids Res. 2001;29:3154-63 pubmed..These results could be rationalised based on the X-ray structure of HIV-1 reverse transcriptase. ..
- Mertens I, Meeusen T, Huybrechts R, De Loof A, Schoofs L. Characterization of the short neuropeptide F receptor from Drosophila melanogaster. Biochem Biophys Res Commun. 2002;297:1140-8 pubmed
- De Muynck S, Schollen E, Matthijs G, Verdonck A, Devriendt K, Carels C. A novel MSX1 mutation in hypodontia. Am J Med Genet A. 2004;128A:401-3 pubmed..In one family, some individuals also had cleft lip and/or palate. We have identified a novel MSX1 mutation (559 C --> T, resulting in Gln187Stop) in three individuals of one family. ..
- Eelen G, Vanden Bempt I, Verlinden L, Drijkoningen M, Smeets A, Neven P, et al. Expression of the BRCA1-interacting protein Brip1/BACH1/FANCJ is driven by E2F and correlates with human breast cancer malignancy. Oncogene. 2008;27:4233-41 pubmed publisher..In conclusion, these data show that Brip1 is a genuine target gene for the E2F/Rb pathway and that elevated expression levels of Brip1 are detected in primary invasive breast carcinomas with unfavorable characteristics. ..
- Declercq J, Skaland I, Van Dyck F, Janssen E, Baak J, Drijkoningen M, et al. Adenomyoepitheliomatous lesions of the mammary glands in transgenic mice with targeted PLAG1 overexpression. Int J Cancer. 2008;123:1593-600 pubmed publisher..Collectively, these results establish the oncogenic potential of PLAG1 in mammary glands of mice and point towards contributing roles of Igf and Wnt signaling. ..
- Lemmens R, Maugeri A, Niessen H, Goris A, Tousseyn T, Demaerel P, et al. Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. Hum Mol Genet. 2013;22:391-7 pubmed publisher..These findings suggest haploinsufficiency, a different mechanism from the commonly assumed dominant-negative effect, for COL4A1 mutations as a cause of (antenatal) intracerebral hemorrhage and white matter disease. ..
- Vandewalle J, Bauters M, Van Esch H, Belet S, Verbeeck J, Fieremans N, et al. The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability. Hum Genet. 2013;132:1177-85 pubmed publisher..Our data indicate that SLC25A5 is involved in memory formation or establishment, which could add mitochondrial processes to the wide array of pathways that regulate normal cognitive functions. ..
- Baens M, Steyls A, Dierlamm J, De Wolf Peeters C, Marynen P. Structure of the MLT gene and molecular characterization of the genomic breakpoint junctions in the t(11;18)(q21;q21) of marginal zone B-cell lymphomas of MALT type. Genes Chromosomes Cancer. 2000;29:281-91 pubmed..The clustering of breaks in intron 7 of API2 and the consistent "in frame" API2-MLT fusions could therefore reflect certain functional constraints crucial for clonal outgrowth. ..
- Van der Geyten S, Toguyeni A, Baroiller J, Fauconneau B, Fostier A, Sanders J, et al. Hypothyroidism induces type I iodothyronine deiodinase expression in tilapia liver. Gen Comp Endocrinol. 2001;124:333-42 pubmed
- Frints S, Jun L, Fryns J, Devriendt K, Teulingkx R, Van den Berghe L, et al. Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. Am J Med Genet A. 2003;119A:367-74 pubmed..Therefore, mutation screening of the NXF gene family in phenotypically identical patients is recommended. ..
- Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi M, Heikkila H, et al. Novel PORCN mutations in focal dermal hypoplasia. Clin Genet. 2009;76:535-43 pubmed publisher..The clinical characteristics of our patients with PORCN mutations were compared with the previously reported mutation-positive cases. In this report, we summarize the literature on PORCN mutations and associated phenotypes...
- Storms V, Claeys M, Sanchez A, De Moor B, Verstuyf A, Marchal K. The effect of orthology and coregulation on detecting regulatory motifs. PLoS ONE. 2010;5:e8938 pubmed publisher..Insights in this relation provide information useful to both developers and users. All benchmark datasets are available at http://homes.esat.kuleuven.be/~kmarchal/Supplementary_Storms_Valerie_PlosONE. ..
- Louwette S, Labarque V, Wittevrongel C, Thys C, Metz J, Gijsbers R, et al. Regulator of G-protein signaling 18 controls megakaryopoiesis and the cilia-mediated vertebrate mechanosensory system. FASEB J. 2012;26:2125-36 pubmed publisher..In summary, our study is the first to show that RGS18 regulates megakaryopoiesis but also reveals its unexpected role in ciliogenesis, at least in lower vertebrates, via interference with Wnt signaling. ..
- Van Houdt J, Nowakowska B, Sousa S, van Schaik B, Seuntjens E, Avonce N, et al. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet. 2012;44:445-9, S1 pubmed publisher..These alterations likely do not impair SWI/SNF complex assembly but may be associated with disrupted ATPase activity. The identification of SMARCA2 mutations in humans provides insight into the function of the Snf2 helicase family...
- Descheemaeker K. On the regulation of the plasminogen activator inhibitor-1 gene expression. Verh K Acad Geneeskd Belg. 1993;55:225-64 pubmed..Southwestern blotting of HeLa nuclear extracts revealed that the labeled oligomer covering region -82 to -65 bound the proteins with molecular weights of 52 kD and 72 kD.(ABSTRACT TRUNCATED AT 400 WORDS) ..
- Wlodarska I, Baens M, Peeters P, Aerssens J, Mecucci C, Brock P, et al. Biallelic alterations of both ETV6 and CDKN1B genes in a t(12;21) childhood acute lymphoblastic leukemia case. Cancer Res. 1996;56:2655-61 pubmed..In addition, the putative loss of wild-type function of CDKN1B and ETV6 could indicate a synergistic effect of both genes in the pathogenesis of this leukemia case. ..
- Graux C, Cools J, Melotte C, Quentmeier H, Ferrando A, Levine R, et al. Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. Nat Genet. 2004;36:1084-9 pubmed..NUP214-ABL1 expression defines a new subgroup of individuals with T-ALL who could benefit from treatment with imatinib. ..
- Rector A, Mostmans S, Van Doorslaer K, McKnight C, Maes R, Wise A, et al. Genetic characterization of the first chiropteran papillomavirus, isolated from a basosquamous carcinoma in an Egyptian fruit bat: the Rousettus aegyptiacus papillomavirus type 1. Vet Microbiol. 2006;117:267-75 pubmed publisher..This is the first time a papillomavirus has been isolated and characterized from a member of the Chiroptera order...
- Rector A, Lemey P, Tachezy R, Mostmans S, Ghim S, Van Doorslaer K, et al. Ancient papillomavirus-host co-speciation in Felidae. Genome Biol. 2007;8:R57 pubmed
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