Genomes and Genes
Experts and Doctors on mutation in Belgium
Publications339 found, 100 shown here
- 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...
- 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. ..
- 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...
- 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. ..
- 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. ..
- 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. ..
- 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. Â© 2016 Wiley Periodicals, Inc. ..
- 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
- 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. ..
- 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. ..
- 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
- 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. ..
- 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)...
- 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. ..
- 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
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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
- 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. ..
- 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. ..
- 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
- 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. ..
- 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...
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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...
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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
- 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. ..
- 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. ..
- Jost E, Michaux L, Vanden Abeele M, Boland B, Latinne D, Godfraind C, et al. Complex karyotype and absence of mutation in the c-kit receptor in aggressive mastocytosis presenting with pelvic osteolysis, eosinophilia and brain damage. Ann Hematol. 2001;80:302-7 pubmed..The screening for recurrent point mutations affecting the c-kit gene was negative. Mainly, the ASP816VAL substitution was not detected in our patient. Treatment with steroids and interferon was only temporarily effective...
- Peng X, Sun J, Michiels C, Iserentant D, Verachtert H. Decrease in cell surface galactose residues of Schizosaccharomyces pombe enhances its coflocculation with Pediococcus damnosus. Appl Environ Microbiol. 2001;67:3413-7 pubmed..damnosus lectin but that these receptors are shielded by galactose residues in wild-type strains. Such interactions are important in the production of Belgian acid types of beers in which mixed cultures are used to improve flavor. ..
- Rohde A, Morreel K, Ralph J, Goeminne G, Hostyn V, De Rycke R, et al. Molecular phenotyping of the pal1 and pal2 mutants of Arabidopsis thaliana reveals far-reaching consequences on phenylpropanoid, amino acid, and carbohydrate metabolism. Plant Cell. 2004;16:2749-71 pubmed..Together, from the molecular phenotype, common and specific functions of PAL1 and PAL2 are delineated, and PAL1 is qualified as being more important for the generation of phenylpropanoids. ..
- Depuydt B, Van Loo G, Vandenabeele P, Declercq W. Induction of apoptosis by TNF receptor 2 in a T-cell hybridoma is FADD dependent and blocked by caspase-8 inhibitors. J Cell Sci. 2005;118:497-504 pubmed..These data confirm the capacity of TNFR2 to generate an apoptotic cell death signal independent of TNFR1. ..
- De Leener A, Montanelli L, Van Durme J, Chae H, Smits G, Vassart G, et al. Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. J Clin Endocrinol Metab. 2006;91:555-62 pubmed..sOHSS can occur by at least three different pathophysiological mechanisms. ..
- De Raeve L, Claes A, Ruiter D, van Muijen G, Roseeuw D, van Kempen L. Distinct phenotypic changes between the superficial and deep component of giant congenital melanocytic naevi: a rationale for curettage. Br J Dermatol. 2006;154:485-92 pubmed
- Aerts A, Francois I, Bammens L, Cammue B, Smets B, Winderickx J, et al. Level of M(IP)2C sphingolipid affects plant defensin sensitivity, oxidative stress resistance and chronological life-span in yeast. FEBS Lett. 2006;580:1903-7 pubmed..In addition, DmTn11 and HsTnII are characterized by increased and reduced oxidative stress resistance/chronological life-span (CL), respectively. A putative involvement of M(IP)2C in oxidative stress and CL in yeast is discussed. ..
- De Vos D, Collins T, Nerinckx W, Savvides S, Claeyssens M, Gerday C, et al. Oligosaccharide binding in family 8 glycosidases: crystal structures of active-site mutants of the beta-1,4-xylanase pXyl from Pseudoaltermonas haloplanktis TAH3a in complex with substrate and product. Biochemistry. 2006;45:4797-807 pubmed
- Michiels J, Berneman Z, Schroyens W, Finazzi G, Budde U, van Vliet H. The paradox of platelet activation and impaired function: platelet-von Willebrand factor interactions, and the etiology of thrombotic and hemorrhagic manifestations in essential thrombocythemia and polycythemia vera. Semin Thromb Hemost. 2006;32:589-604 pubmed
- Vanakker O, Martin L, Schurgers L, Quaglino D, Costrop L, Vermeer C, et al. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome. Lab Invest. 2010;90:895-905 pubmed publisher..Although in PXE-like patients this is due to mutations in the GGCX gene, a deficiency of the carboxylation co-factor VK is at the basis of the decreased activity of calcification inhibitors in PXE. ..
- Vanderauwera S, Suzuki N, Miller G, van de Cotte B, Morsa S, Ravanat J, et al. Extranuclear protection of chromosomal DNA from oxidative stress. Proc Natl Acad Sci U S A. 2011;108:1711-6 pubmed publisher..This response is correlated with enhanced tolerance to oxidative stress, DNA stress-causing agents, and inhibited programmed cell death. ..
- Bonneux S, Fransen E, Van Eyken E, Van Laer L, Huyghe J, Van de Heyning P, et al. Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population. Mitochondrion. 2011;11:729-34 pubmed publisher..We also tested the influence of rare variants on ARHI. None of these tests showed any association with ARHI. ..
- Nowack M, Harashima H, Dissmeyer N, Zhao X, Bouyer D, Weimer A, et al. Genetic framework of cyclin-dependent kinase function in Arabidopsis. Dev Cell. 2012;22:1030-40 pubmed publisher..Taken together, our data indicate divergent functional differentiation of Cdc2-type kinases during eukaryote evolution. ..
- Defoirdt T, Benneche T, Brackman G, Coenye T, Sorgeloos P, Scheie A. A quorum sensing-disrupting brominated thiophenone with a promising therapeutic potential to treat luminescent vibriosis. PLoS ONE. 2012;7:e41788 pubmed publisher..5 µM or more, whereas severe toxicity was only observed at 250 µM. This makes TF310 showing the highest therapeutic index of all quorum sensing-disrupting compounds tested thus far in our brine shrimp model system. ..
- Aeby A, Prigogine C, Vilain C, Malfilatre G, Jaeken J, Lederer D, et al. RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy. Epileptic Disord. 2016;18:92-6 pubmed publisher..The aim of this report is to describe the electroclinical presentation of epilepsy associated with this condition. [Published with video sequences online]. ..
- Caparica R, de Castro G, Gil Bazo I, Caglevic C, Calogero R, Giallombardo M, et al. BRAF mutations in non-small cell lung cancer: has finally Janus opened the door?. Crit Rev Oncol Hematol. 2016;101:32-9 pubmed publisher..Enrollment of these patients in clinical trials is an interesting strategy to offer a potentially more effective and less toxic targeted therapy. ..
- Braun D, Rao J, Mollet G, Schapiro D, Daugeron M, Tan W, et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017;49:1529-1538 pubmed publisher..We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms. ..
- Abramowicz M, Targovnik H, Varela V, Cochaux P, Krawiec L, Pisarev M, et al. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J Clin Invest. 1992;90:1200-4 pubmed..The direct genetic diagnosis of this mutation can be made by digestion of polymerase chain reaction products with NaeI restriction enzyme. This will help assessing its prevalence among the heterogenous genetic group of TPO defects. ..
- Roovers M, Charlier D, Feller A, Gigot D, Holemans F, Lissens W, et al. carP, a novel gene regulating the transcription of the carbamoylphosphate synthetase operon of Escherichia coli. J Mol Biol. 1988;204:857-65 pubmed..We have isolated two operator-constitutive mutations that specifically affect P2; both map in the upstream ARG box at a strongly conserved position. ..
- Freson K, Peerlinck K, Aguirre T, Arnout J, Vermylen J, Cassiman J, et al. Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene. Hum Mutat. 1998;11:470-9 pubmed..Fifteen of these mutations are new. Thus virtually all kind of mutations are detectable by this method. Moreover, the analysis of the gene can be completed in 2 days. ..
- Roovers M, Sanchez R, Legrain C, Glansdorff N. Experimental evolution of enzyme temperature activity profile: selection in vivo and characterization of low-temperature-adapted mutants of Pyrococcus furiosus ornithine carbamoyltransferase. J Bacteriol. 2001;183:1101-5 pubmed..The mutants were double ones, still complementing at 15 degrees C, a temperature already in the psychrophilic range. Their kinetic analysis is reported. ..