Experts and Doctors on mutation in Belgium


Locale: Belgium
Topic: mutation

Top Publications

  1. Abramowicz M, Vassart G, Christophe D. Functional study of the human thyroid peroxidase gene promoter. Eur J Biochem. 1992;203:467-73 pubmed
  2. Cruts M, Backhovens H, Wang S, Van Gassen G, Theuns J, De Jonghe C, et al. Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Hum Mol Genet. 1995;4:2363-71 pubmed
  3. Schmit J, Cogniaux J, Hermans P, van Vaeck C, Sprecher S, Van Remoortel B, et al. Multiple drug resistance to nucleoside analogues and nonnucleoside reverse transcriptase inhibitors in an efficiently replicating human immunodeficiency virus type 1 patient strain. J Infect Dis. 1996;174:962-8 pubmed
    ..The multi-ddN-resistant isolate was not eliminated in a competition culture with the wild type isolate. Sequential therapy did not prevent the appearance of multidrug-resistant virus with a conserved replication rate. ..
  4. Van Dam D, D Hooge R, Staufenbiel M, Van Ginneken C, Van Meir F, De Deyn P. Age-dependent cognitive decline in the APP23 model precedes amyloid deposition. Eur J Neurosci. 2003;17:388-96 pubmed
    ..Detectable plaque formation is not the (only) causal factor contributing to memory defects in the APP23 model. ..
  5. Vergauwen B, Pauwels F, Vaneechoutte M, Van Beeumen J. Exogenous glutathione completes the defense against oxidative stress in Haemophilus influenzae. J Bacteriol. 2003;185:1572-81 pubmed
    ..coli. Finally, we demonstrated that cysteine is an essential amino acid for growth and that cystine, GSH, glutathione amide, and cysteinylglycine can be catabolized in order to complement cysteine deficiency. ..
  6. Raymackers J, Debaix H, Colson Van Schoor M, De Backer F, Tajeddine N, Schwaller B, et al. Consequence of parvalbumin deficiency in the mdx mouse: histological, biochemical and mechanical phenotype of a new double mutant. Neuromuscul Disord. 2003;13:376-87 pubmed
    ..The slight aggravation of muscle dystrophy observed in mdx mice deprived of parvalbumin cannot explain the severity of the affection observed in xmd dogs and Duchenne dystrophy patients where parvalbumin is constitutively not expressed. ..
  7. Mathis R, Van Gijsegem F, De Rycke R, D Haeze W, Van Maelsaeke E, Anthonio E, et al. Lipopolysaccharides as a communication signal for progression of legume endosymbiosis. Proc Natl Acad Sci U S A. 2005;102:2655-60 pubmed
    ..Nod factors act first to trigger the onset of the nodulation and invasion program; LPSs inform the plant to proceed with the symbiotic interaction and to develop a functional fixation zone...
  8. Gloire G, Horion J, El Mjiyad N, Bex F, Chariot A, Dejardin E, et al. Promoter-dependent effect of IKKalpha on NF-kappaB/p65 DNA binding. J Biol Chem. 2007;282:21308-18 pubmed
    ..We conclude that nuclear IKKalpha is required for p65 DNA binding in a gene-specific manner. ..
  9. Lemmens R, Van Hoecke A, Hersmus N, Geelen V, D Hollander I, Thijs V, et al. Overexpression of mutant superoxide dismutase 1 causes a motor axonopathy in the zebrafish. Hum Mol Genet. 2007;16:2359-65 pubmed

More Information

Publications339 found, 100 shown here

  1. Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, et al. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet. 2009;46:233-41 pubmed publisher
    ..These proteins constitute together with cyclophilin B (CyPB) the prolyl 3-hydroxylation complex that hydroxylates the Pro986 residue in both the type I and type II collagen alpha1-chains...
  2. Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol. 2009;256 Suppl 1:3-8 pubmed publisher
    ..In addition to a review of the clinicopathological features of FRDA, a discussion of recent advances in our understanding of the underlying molecular mechanisms is provided. ..
  3. Lecordier L, Vanhollebeke B, Poelvoorde P, Tebabi P, Paturiaux Hanocq F, Andris F, et al. C-terminal mutants of apolipoprotein L-I efficiently kill both Trypanosoma brucei brucei and Trypanosoma brucei rhodesiense. PLoS Pathog. 2009;5:e1000685 pubmed publisher
    ..In addition, they provide a possible explanation for the ability of Papio serum to kill T. b. rhodesiense, and offer a perspective to generate transgenic cattle resistant to both T. b. brucei and T. b. rhodesiense...
  4. Régal L, Ebberink M, Goemans N, Wanders R, De Meirleir L, Jaeken J, et al. Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol. 2010;68:259-63 pubmed publisher
    ..Bile acid supplements and dietary restriction of phytanic acid were started. Peroxisomal biogenesis disorders should be considered in the differential diagnosis of autosomal recessive ataxia. ..
  5. Vroonen L, Jaffrain Rea M, Petrossians P, Tamagno G, Chanson P, Vilar L, et al. Prolactinomas resistant to standard doses of cabergoline: a multicenter study of 92 patients. Eur J Endocrinol. 2012;167:651-62 pubmed publisher
    ..3%) and three a pituitary carcinoma (3.3%). CAB-resistant prolactinomas remain a serious concern. Surgical debulking, newer therapeutic strategies, and early diagnosis of genetic forms could help to improve their outcome. ..
  6. Van Der Borght K, Verbeke G, Van Vlijmen H. Multi-model inference using mixed effects from a linear regression based genetic algorithm. BMC Bioinformatics. 2014;15:88 pubmed publisher
    ..As we largely automated setting the GA parameters, the method should be applicable on similar datasets with clustered observations. ..
  7. Van Roosbroeck K, Ferreiro J, Tousseyn T, van der Krogt J, Michaux L, Pienkowska Grela B, et al. Genomic alterations of the JAK2 and PDL loci occur in a broad spectrum of lymphoid malignancies. Genes Chromosomes Cancer. 2016;55:428-41 pubmed publisher
    ..1 rearrangements occurring in lymphoid malignancies seem to target the programmed death-1 ligands, what potentiates the therapeutic activity of PD-1 blockade in these tumors. © 2016 Wiley Periodicals, Inc. ..
  8. Ghislain M, De Sadeleer M, Goffeau A. Altered plasma membrane H(+)-ATPase from the Dio-9-resistant pma1-2 mutant of Schizosaccharomyces pombe. Eur J Biochem. 1992;209:275-9 pubmed
  9. Lissens W, Mahmoud K, El Gindi E, Abdel Sattar A, Seneca S, Van Steirteghem A, et al. Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens. Mol Hum Reprod. 1999;5:10-3 pubmed
    ..However, one patient was homozygous for a leucine to proline substitution at amino acid position 541 (L541P) of the CFTR. It is as yet not clear whether this change is involved in CBAVD in this male. ..
  10. Busch K, Martin B, Baniahmad A, Martial J, Renkawitz R, Muller M. Silencing subdomains of v-ErbA interact cooperatively with corepressors: involvement of helices 5/6. Mol Endocrinol. 2000;14:201-11 pubmed
    ..In conclusion, full silencing activity requires corepressor interaction with all three silencing subdomains, SSD1-3. Among these, SSD2 is a new target for N-CoR and SMRT and is essential for corepressor binding and function. ..
  11. Scohy S, Gabant P, Szpirer C, Szpirer J. Identification of an enhancer and an alternative promoter in the first intron of the alpha-fetoprotein gene. Nucleic Acids Res. 2000;28:3743-51 pubmed
  12. Abadjieva A, Pauwels K, Hilven P, Crabeel M. A new yeast metabolon involving at least the two first enzymes of arginine biosynthesis: acetylglutamate synthase activity requires complex formation with acetylglutamate kinase. J Biol Chem. 2001;276:42869-80 pubmed
    ..Hypotheses regarding the biological significance of this interaction are discussed. ..
  13. Vanhoenacker F, Van Hul W, Wuyts W, Willems P, De Schepper A. Hereditary multiple exostoses: from genetics to clinical syndrome and complications. Eur J Radiol. 2001;40:208-17 pubmed
    ..To give an overview of genetic, clinical and radiological aspects in two families over four generations with known hereditary multiple exostoses (HME)...
  14. Nelissen H, Clarke J, De Block M, De Block S, Vanderhaeghen R, Zielinski R, et al. DRL1, a homolog of the yeast TOT4/KTI12 protein, has a function in meristem activity and organ growth in plants. Plant Cell. 2003;15:639-54 pubmed
    ..Upregulation of the ANGUSTIFOLIA transcript in the strong drl1-2 allele supports this model. ..
  15. Dewerchin M, Herault J, Wallays G, Petitou M, Schaeffer P, Millet L, et al. Life-threatening thrombosis in mice with targeted Arg48-to-Cys mutation of the heparin-binding domain of antithrombin. Circ Res. 2003;93:1120-6 pubmed
  16. Mascaux C, Iannino N, Martin B, Paesmans M, Berghmans T, Dusart M, et al. The role of RAS oncogene in survival of patients with lung cancer: a systematic review of the literature with meta-analysis. Br J Cancer. 2005;92:131-9 pubmed
    ..40; 95% CI 1.18-1.65) but not in studies using IHC (HR 1.08; 95% CI 0.86-1.34). RAS appears to be a pejorative prognostic factor in terms of survival in NSCLC globally, in ADC and when it is studied by PCR. ..
  17. Diels A, De Taeye J, Michiels C. Sensitisation of Escherichia coli to antibacterial peptides and enzymes by high-pressure homogenisation. Int J Food Microbiol. 2005;105:165-75 pubmed
    ..coli to lysozyme and nisin by inducing a transient permeabilisation of the outer membrane that does not involve a physical disruption and that is immediately repaired after the process. ..
  18. Mertens I, Vandingenen A, Johnson E, Shafer O, Li W, Trigg J, et al. PDF receptor signaling in Drosophila contributes to both circadian and geotactic behaviors. Neuron. 2005;48:213-9 pubmed
    ..These data establish the first synapse within the Drosophila circadian neural circuit and underscore the importance of Class II peptide GPCR signaling in circadian neural systems. ..
  19. Peeters H, Voz M, Verschueren K, De Cat B, Pendeville H, Thienpont B, et al. Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling. Hum Mol Genet. 2006;15:3369-77 pubmed
    ..In this study, we identify SESN1 as an indispensable gene for vertebrate left-right asymmetry and a new player in mediating Nodal signaling. ..
  20. Vandenbussche F, Habricot Y, Condiff A, Maldiney R, Van Der Straeten D, Ahmad M. HY5 is a point of convergence between cryptochrome and cytokinin signalling pathways in Arabidopsis thaliana. Plant J. 2007;49:428-41 pubmed
  21. La Gerche A, Robberecht C, Kuiperi C, Nuyens D, Willems R, de Ravel T, et al. Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin. Heart. 2010;96:1268-74 pubmed publisher
    ..This adds further weight to the hypothesis that an ARVC-like phenotype may be acquired through intense exercise without an identifiable genetic predisposition. ..
  22. De Storme N, Geelen D. The Arabidopsis mutant jason produces unreduced first division restitution male gametes through a parallel/fused spindle mechanism in meiosis II. Plant Physiol. 2011;155:1403-15 pubmed publisher
  23. Buske B, Gengler N, Soyeurt H. Short communication: influence of the muscle hypertrophy mutation of the myostatin gene on milk production traits and milk fatty acid composition in dual-purpose Belgian Blue dairy cattle. J Dairy Sci. 2011;94:3687-92 pubmed publisher
  24. François K, Balzarini J. The highly conserved glycan at asparagine 260 of HIV-1 gp120 is indispensable for viral entry. J Biol Chem. 2011;286:42900-10 pubmed publisher
    ..Thus, the Asn-260 glycan in the gp120 envelope of HIV-1 represents a hot spot for targeting suicidal drugs or antibodies in a therapeutic effort to efficiently neutralize a broad array of virus strains. ..
  25. Dagklis A, Pauwels D, Lahortiga I, Geerdens E, Bittoun E, Cauwelier B, et al. Hedgehog pathway mutations in T-cell acute lymphoblastic leukemia. Haematologica. 2015;100:e102-5 pubmed publisher
  26. Moraru A, Cakan Akdogan G, Strassburger K, Males M, Mueller S, Jabs M, et al. THADA Regulates the Organismal Balance between Energy Storage and Heat Production. Dev Cell. 2017;41:72-81.e6 pubmed publisher
    ..In sum, this identifies THADA as a regulator of the balance between energy consumption and energy storage, which was selected during human evolution. ..
  27. Walton P, Brees C, Lismont C, Apanasets O, Fransen M. The peroxisomal import receptor PEX5 functions as a stress sensor, retaining catalase in the cytosol in times of oxidative stress. Biochim Biophys Acta Mol Cell Res. 2017;1864:1833-1843 pubmed publisher
  28. Vandenbol M, Jauniaux J, Grenson M. The Saccharomyces cerevisiae NPR1 gene required for the activity of ammonia-sensitive amino acid permeases encodes a protein kinase homologue. Mol Gen Genet. 1990;222:393-9 pubmed
    ..Hence, the NPR1 protein probably acts at the post-transcriptional level. Proteins that may serve as substrates for phosphorylation are discussed. ..
  29. Leyns L, Gomez Skarmeta J, Dambly Chaudiere C. iroquois: a prepattern gene that controls the formation of bristles on the thorax of Drosophila. Mech Dev. 1996;59:63-72 pubmed
    ..We propose that iro is a prepattern gene essential to activate the expression of scute in the regions of the disc that will form the lateral notum. ..
  30. Claes K, Vandesompele J, Poppe B, Dahan K, Coene I, De Paepe A, et al. Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene. Oncogene. 2002;21:4171-5 pubmed
    ..We hypothesize that disruption of alternative transcript ratios of BRCA1 may be a dominant mechanism affecting predisposition to hereditary breast and/or ovarian cancer. ..
  31. Sauvage E, Kerff F, Fonze E, Herman R, Schoot B, Marquette J, et al. The 2.4-A crystal structure of the penicillin-resistant penicillin-binding protein PBP5fm from Enterococcus faecium in complex with benzylpenicillin. Cell Mol Life Sci. 2002;59:1223-32 pubmed
    ..Moreover, the insertion of a serine after residue 466 in the most resistant strains underlines even more the determining role of this loop in the recognition of the substrates. ..
  32. Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer Grumbach M, Kwon J, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet. 2003;72:722-7 pubmed
    ..The alignment of RAB7 orthologs shows that both missense mutations target highly conserved amino acid residues. RAB7 is ubiquitously expressed, and we found expression in sensory and motor neurons. ..
  33. Stove V, Naessens E, Stove C, Swigut T, Plum J, Verhasselt B. Signaling but not trafficking function of HIV-1 protein Nef is essential for Nef-induced defects in human intrathymic T-cell development. Blood. 2003;102:2925-32 pubmed
    ..These results point to sites in Nef to target therapeutically for restoration of thymopoiesis in HIV infection. ..
  34. Zabeau L, Defeau D, Iserentant H, Vandekerckhove J, Peelman F, Tavernier J. Leptin receptor activation depends on critical cysteine residues in its fibronectin type III subdomains. J Biol Chem. 2005;280:22632-40 pubmed
    ..We propose a model wherein leptin-induced clustering of two preformed dimers forms the activated LR complex. Disulfide bridge formation involving Cys-672 and Cys-751 may be necessary for JAK activation and hence signaling. ..
  35. Vandedrinck S, Deschamps G, Sablon E, Vandamme E. Construction and characterization of a PPC (phosphoenolpyruvate carboxylase) knockout mutant of Escherichia coli. Meded Rijksuniv Gent Fak Landbouwkd Toegep Biol Wet. 2001;66:345-9 pubmed
  36. Paeshuyse J, Leyssen P, Mabery E, Boddeker N, Vrancken R, Froeyen M, et al. A novel, highly selective inhibitor of pestivirus replication that targets the viral RNA-dependent RNA polymerase. J Virol. 2006;80:149-60 pubmed
    ..The potential of BPIP for the treatment of pestivirus and hepacivirus infections is discussed. ..
  37. Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, et al. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet. 2005;48:377-87 pubmed
    ..We identified three novel and one previously described GJA1 mutation in two large ODDD families and two sporadic ODDD cases. ..
  38. D Hulst C, De Geest N, Reeve S, Van Dam D, De Deyn P, Hassan B, et al. Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res. 2006;1121:238-45 pubmed
  39. De Coster P, Cornelissen M, De Paepe A, Martens L, Vral A. Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders. Arch Oral Biol. 2007;52:101-9 pubmed
    ..These observations on (ultra)structural dentin defects associated with the two novel gene mutations are the first ever reported. ..
  40. Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, et al. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet. 2008;82:432-43 pubmed publisher
    ..Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too...
  41. Hilgert N, Huentelman M, Thorburn A, Fransen E, Dieltjens N, Mueller Malesinska M, et al. Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. Eur J Hum Genet. 2009;17:517-24 pubmed publisher
    ..Significantly associated SNPs may reflect a small modifying effect on the phenotype. Increasing the power of the study will be of greatest importance to confirm these results. ..
  42. Beel K, Vandenberghe P. G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia. Haematologica. 2009;94:1449-52 pubmed publisher
    ..Thus, leukemic transformation with acquisition of CSF3R mutations and monosomy 7 is not restricted to classical congenital neutropenia with autosomal inheritance, but can also occur in other genotypes of inherited neutropenia. ..
  43. Galle M, Jin S, Bogaert P, Haegman M, Vandenabeele P, Beyaert R. The Pseudomonas aeruginosa type III secretion system has an exotoxin S/T/Y independent pathogenic role during acute lung infection. PLoS ONE. 2012;7:e41547 pubmed publisher
    ..These results demonstrate a T3SS effector toxin independent role for the T3SS, in particular the T3SS translocator protein PopB, in the pathogenicity of P. aeruginosa during acute lung infection. ..
  44. Eloy N, Gonzalez N, Van Leene J, Maleux K, Vanhaeren H, De Milde L, et al. SAMBA, a plant-specific anaphase-promoting complex/cyclosome regulator is involved in early development and A-type cyclin stabilization. Proc Natl Acad Sci U S A. 2012;109:13853-8 pubmed publisher
    ..Inactivation of SAMBA stabilized A2-type cyclins during early development. Our data suggest that SAMBA regulates cell proliferation during early development by targeting CYCLIN A2 for APC/C-mediated proteolysis. ..
  45. Huysman M, Fortunato A, Matthijs M, Costa B, Vanderhaeghen R, Van Den Daele H, et al. AUREOCHROME1a-mediated induction of the diatom-specific cyclin dsCYC2 controls the onset of cell division in diatoms (Phaeodactylum tricornutum). Plant Cell. 2013;25:215-28 pubmed publisher
  46. Cho H, Ryu H, Rho S, Hill K, Smith S, Audenaert D, et al. A secreted peptide acts on BIN2-mediated phosphorylation of ARFs to potentiate auxin response during lateral root development. Nat Cell Biol. 2014;16:66-76 pubmed publisher
    ..In summary, this study delineates a TDIF-TDR-BIN2 signalling cascade that controls regulation of ARF and AUX/IAA interaction independent of auxin perception during lateral root development...
  47. Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay G, et al. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS ONE. 2015;10:e0120020 pubmed publisher
    ..Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers. ..
  48. Ogunjimi B, Zhang S, Sørensen K, Skipper K, Carter Timofte M, Kerner G, et al. Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections. J Clin Invest. 2017;127:3543-3556 pubmed publisher
  49. Cupers P, Bentahir M, Craessaerts K, Orlans I, Vanderstichele H, Saftig P, et al. The discrepancy between presenilin subcellular localization and gamma-secretase processing of amyloid precursor protein. J Cell Biol. 2001;154:731-40 pubmed
    ..Our data confirm the "spatial paradox" and raise several questions regarding the PS1 is gamma-secretase hypothesis. ..
  50. Decordier I, Cundari E, Kirsch Volders M. Influence of caspase activity on micronuclei detection: a possible role for caspase-3 in micronucleation. Mutagenesis. 2005;20:173-9 pubmed
    ..These results suggest that caspase-3, besides its function as an effector caspase in the apoptotic pathway, is also involved in the formation of micronuclei. ..
  51. De Grauwe L, Vandenbussche F, Tietz O, Palme K, Van Der Straeten D. Auxin, ethylene and brassinosteroids: tripartite control of growth in the Arabidopsis hypocotyl. Plant Cell Physiol. 2005;46:827-36 pubmed
    ..Hence, our results indicate that HLS1, SUR1/HLS3/RTY1/ALF1 and AMP1/HPT/COP2/HLS2/PT act on the auxin-ethylene interaction, rather than at the level of BRs. A model for the tripartite hormone interactions is presented. ..
  52. Sleegers K, Bettens K, Brouwers N, Engelborghs S, Van Miegroet H, De Deyn P, et al. Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia. Hum Mutat. 2009;30:E338-44 pubmed publisher
    ..6). The association was driven by a higher frequency of the major haplotype in patients. Our data independently replicate an association between GAB2 and late-onset AD, which appears to be limited to APOE epsilon4 carriers. ..
  53. De Leeneer K, Coene I, Poppe B, De Paepe A, Claes K. Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden. J Mol Diagn. 2009;11:415-9 pubmed publisher
    ..This is one of the largest studies reported to date and the first that presents an approach combining genotyping and mutation scanning of two large polymorphic genes. ..
  54. Castro Roa D, Garcia Pino A, De Gieter S, van Nuland N, Loris R, Zenkin N. The Fic protein Doc uses an inverted substrate to phosphorylate and inactivate EF-Tu. Nat Chem Biol. 2013;9:811-7 pubmed publisher
  55. Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, et al. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J Clin Endocrinol Metab. 2001;86:234-8 pubmed
    ..Our results give further evidence that, contrary to the situation in knockout mice, haplo-insufficiency of PAX8 is a cause of CH in humans. ..
  56. Vleminckx V, Van Damme P, Goffin K, Delye H, Van Den Bosch L, Robberecht W. Upregulation of HSP27 in a transgenic model of ALS. J Neuropathol Exp Neurol. 2002;61:968-74 pubmed
    ..The early nuclear localization was confirmed by Western blot analysis of spinal cord nuclear and cytoplasmic fractions. In contrast to HSP27, alphaB-crystallin was localized exclusively in the cytoplasm of reactive glial cells. ..
  57. Donaton M, Holsbeeks I, Lagatie O, Van Zeebroeck G, Crauwels M, Winderickx J, et al. The Gap1 general amino acid permease acts as an amino acid sensor for activation of protein kinase A targets in the yeast Saccharomyces cerevisiae. Mol Microbiol. 2003;50:911-29 pubmed
  58. Peeters P, Baker A, Goris I, Daneels G, Verhasselt P, Luyten W, et al. Sensory deficits in mice hypomorphic for a mammalian homologue of unc-53. Brain Res Dev Brain Res. 2004;150:89-101 pubmed
    ..We hypothesize that in analogy with its C. elegans homologue, unc53H2 may play a role in the processes of cellular outgrowth and migration. ..
  59. Nguyen T, Calomme C, Wijmeersch G, Nizet S, Veithen E, Portetelle D, et al. Deacetylase inhibitors and the viral transactivator TaxBLV synergistically activate bovine leukemia virus gene expression via a cAMP-responsive element- and cAMP-responsive element-binding protein-dependent mechanism. J Biol Chem. 2004;279:35025-36 pubmed
    ..Our results together suggest that an increase in CREB/ATF occupancy of the viral CREs in response to HDACi potentiates Tax(BLV) transactivation of the BLV promoter. ..
  60. De Preter K, Vandesompele J, Hoebeeck J, Vandenbroecke C, Smet J, Nuyts A, et al. No evidence for involvement of SDHD in neuroblastoma pathogenesis. BMC Cancer. 2004;4:55 pubmed
    ..Also, although a haplo-insufficient mechanism for SDHD involvement in advanced stage neuroblastoma could be considered, the present data do not provide consistent evidence for this hypothesis. ..
  61. De Muynck C, Van der Borght J, De Mey M, De Maeseneire S, Van Bogaert I, Beauprez J, et al. Development of a selection system for the detection of L-ribose isomerase expressing mutants of Escherichia coli. Appl Microbiol Biotechnol. 2007;76:1051-7 pubmed
    ..Hence, the mutant clones could be screened on a minimal medium with L-ribose as the sole carbon source. Through the screening, two first-generation mutants were isolated, which expressed a small amount of L-ribose isomerase activity. ..
  62. Van Broeck B, Van Broeckhoven C, Kumar Singh S. Current insights into molecular mechanisms of Alzheimer disease and their implications for therapeutic approaches. Neurodegener Dis. 2007;4:349-65 pubmed
    ..Secondly, considering these mechanistic insights, we will discuss some therapeutic strategies which are currently in clinical or preclinical trials for AD. ..
  63. Ruelle J, Roman F, Vandenbroucke A, Lambert C, Fransen K, Echahidi F, et al. Transmitted drug resistance, selection of resistance mutations and moderate antiretroviral efficacy in HIV-2: analysis of the HIV-2 Belgium and Luxembourg database. BMC Infect Dis. 2008;8:21 pubmed publisher
    ..The high heterogeneity in ARV combinations reflects a lack of guidelines for the treatment of HIV-2 infection. ..
  64. Sermon K, Simon C, Braude P, Viville S, Borstlap J, Veiga A. Creation of a registry for human embryonic stem cells carrying an inherited defect: joint collaboration between ESHRE and hESCreg. Hum Reprod. 2009;24:1556-60 pubmed publisher
    ..This mini-review is a first report that will be followed by yearly reports of new lines, not unlike the reports from the Preimplantation Genetic Diagnosis Consortium or the European IVF Monitoring. ..
  65. Storkebaum E, Leitão Gonçalves R, Godenschwege T, Nangle L, Mejia M, Bosmans I, et al. Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. Proc Natl Acad Sci U S A. 2009;106:11782-7 pubmed publisher
    ..Our results also suggest that the molecular pathways leading to mutant TyrRS-associated neurodegeneration are conserved from flies to humans. ..
  66. Kitakura S, Vanneste S, Robert S, Löfke C, Teichmann T, Tanaka H, et al. Clathrin mediates endocytosis and polar distribution of PIN auxin transporters in Arabidopsis. Plant Cell. 2011;23:1920-31 pubmed publisher
    ..Together, these data demonstrate a fundamental role for clathrin function in cell polarity, growth, patterning, and organogenesis in plants. ..
  67. Falson P, Maffey L, Conrath K, Boutry M. Alpha subunit of mitochondrial F1-ATPase from the fission yeast. Deduced sequence of the wild type and identification of a mutation that alters apparent negative cooperativity. J Biol Chem. 1991;266:287-93 pubmed
    ..Its substitution by a leucine residue appears responsible for the lower enzyme affinity toward ADP and for the loss of cooperativity of F1-ATPase activity. ..
  68. Moechars D, Dewachter I, Lorent K, Reverse D, Baekelandt V, Naidu A, et al. Early phenotypic changes in transgenic mice that overexpress different mutants of amyloid precursor protein in brain. J Biol Chem. 1999;274:6483-92 pubmed
  69. Laroy W, Ameloot P, Contreras R. Characterization of sialyltransferase mutants using surface plasmon resonance. Glycobiology. 2001;11:175-82 pubmed
    ..To our knowledge, this is the first example in which surface plasmon resonance is successfully used to demonstrate the binding of a glycosyltransferase to its natural acceptor. ..
  70. Freson K, Devriendt K, Matthijs G, van Hoof A, de Vos R, Thys C, et al. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood. 2001;98:85-92 pubmed
    ..In conclusion, GATA1 mutations can lead to isolated X-linked macrothrombocytopenia without anemia. ..
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