Experts and Doctors on mutation in Barcelona, Catalonia, Spain


Locale: Barcelona, Catalonia, Spain
Topic: mutation

Top Publications

  1. Chabas A, Montfort M, Martinez Campos M, Diaz A, Coll M, Grinberg D, et al. Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. Am J Med Genet. 2001;100:223-8 pubmed
    ..Chromosomes bearing mutation 1091delC show a conserved haplotype suggesting a common origin for this mutation. Moreover, all other mutations found twice or more also have conserved haplotypes for those polymorphic markers. ..
  2. Ruiz A, del Carmen Ruiz M, Sánchez Garrido M, Arino J, Ramos J. The Ppz protein phosphatases regulate Trk-independent potassium influx in yeast. FEBS Lett. 2004;578:58-62 pubmed
  3. Oliva R. Protamines and male infertility. Hum Reprod Update. 2006;12:417-35 pubmed
    ..The present work reviews the articles published to date on the relationship between protamines and infertility. ..
  4. Gaig C, Marti M, Ezquerra M, Rey M, Cardozo A, Tolosa E. G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies. J Neurol Neurosurg Psychiatry. 2007;78:626-8 pubmed
    ..A G2019S LRRK2 mutation was eventually detected. The present case confirms that clinical PD caused by G2019S mutations can be associated with non-specific nigral degeneration without Lewy bodies. ..
  5. Balsalobre C, Johansson J, Uhlin B, Juarez A, Muñoa F. Alterations in protein expression caused by the hha mutation in Escherichia coli: influence of growth medium osmolarity. J Bacteriol. 1999;181:3018-24 pubmed
    ..This was the case, suggesting that at least some of the pleiotropic effects of the hha mutation could be caused by its effect on the catabolite repression system. ..
  6. Herrera C, Morimoto C, Blanco J, Mallol J, Arenzana F, Lluis C, et al. Comodulation of CXCR4 and CD26 in human lymphocytes. J Biol Chem. 2001;276:19532-9 pubmed
    ..The physical association of CXCR4 and CD26, direct or part of a supramolecular structure, suggests a role on the function of the immune system and the pathophysiology of HIV infection. ..
  7. Guerrero S, Figueras A, Casanova I, Farre L, Lloveras B, Capella G, et al. Codon 12 and codon 13 mutations at the K-ras gene induce different soft tissue sarcoma types in nude mice. FASEB J. 2002;16:1642-4 pubmed
    ..These morphological, functional, and molecular differences demonstrate that codon 12 and codon 13 mutations in the K-ras oncogene can induce two different soft tissue sarcoma types in our in vivo model. ..
  8. Sabariegos R, Nadal A, Beguiristain N, Piron M, Gomez J. Catalytic RNase P RNA from Synechocystis sp. cleaves the hepatitis C virus RNA near the AUG start codon. FEBS Lett. 2004;577:517-22 pubmed
    ..This provides additional support for the presence of an RNA structure similar to tRNA near the AUG start codon and suggests that Synechocystis P RNA may be an active agent for HCV antigenomic interventions. ..
  9. Augustin S, Llige D, Andreu A, Gonzalez A, Genesca J. Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene. Eur J Clin Invest. 2007;37:673-8 pubmed
    ..The variations on the natural history of this form of amyloidosis may have important consequences on genetic counselling, follow-up, and therapeutic approaches for these patients. ..

More Information

Publications368 found, 100 shown here

  1. Marzo N, Ortega S, Stratmann T, García A, Rios M, Giménez A, et al. Cyclin-dependent kinase 4 hyperactivity promotes autoreactivity in the immune system but protects pancreatic cell mass from autoimmune destruction in the nonobese diabetic mouse model. J Immunol. 2008;180:1189-98 pubmed
  2. Xifro X, García Martínez J, del Toro D, Alberch J, Pérez Navarro E. Calcineurin is involved in the early activation of NMDA-mediated cell death in mutant huntingtin knock-in striatal cells. J Neurochem. 2008;105:1596-612 pubmed publisher
    ..These results suggest that high levels of calcineurin A could account for the increased vulnerability of striatal cells expressing mutant huntingtin to excitotoxicity. ..
  3. Olive M, Shatunov A, Gonzalez L, Carmona O, Moreno D, Quereda L, et al. Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. Neuromuscul Disord. 2008;18:929-33 pubmed publisher
    ..With this current identification of a case outside the Brazilian population, telethonin mutation-associated LGMD should be considered worldwide. ..
  4. Mas G, de Nadal E, Dechant R, Rodríguez de la Concepción M, Logie C, Jimeno González S, et al. Recruitment of a chromatin remodelling complex by the Hog1 MAP kinase to stress genes. EMBO J. 2009;28:326-36 pubmed publisher
    ..Our results suggest that the selective targeting of the RSC complex by Hog1 provides the necessary mechanistic basis for this event. ..
  5. Leivar P, Antolin Llovera M, Ferrero S, Closa M, Arró M, Ferrer A, et al. Multilevel control of Arabidopsis 3-hydroxy-3-methylglutaryl coenzyme A reductase by protein phosphatase 2A. Plant Cell. 2011;23:1494-511 pubmed publisher
    ..Our data indicate that PP2A exerts multilevel control on HMGR through the five-member B'' protein family during normal development and in response to a variety of stress conditions. ..
  6. Mateu E, Calafell F, Lao O, Bonne Tamir B, Kidd J, Pakstis A, et al. Worldwide genetic analysis of the CFTR region. Am J Hum Genet. 2001;68:103-17 pubmed
    ..The low values found in non-Africans may imply that the size of the modern human population that emerged "Out of Africa" may be larger than what previous LD studies suggested. ..
  7. García Fruitós E, Martínez Alonso M, Gonzalez Montalban N, Valli M, Mattanovich D, Villaverde A. Divergent genetic control of protein solubility and conformational quality in Escherichia coli. J Mol Biol. 2007;374:195-205 pubmed
  8. Mordillo C, Martinez Marchán E, Fontcuberta J, Soria J. Molecular analysis of multiple genetic variants in Spanish FXII-deficient families. Haematologica. 2007;92:1569-72 pubmed
    ..Finally, a G-8C transversion was found in the homozygous state in Patient 3. Based on previous data, including a mouse model, the G-8C might be responsible for the FXII deficiency. None of these variants were present in 40 controls. ..
  9. Alias L, Bernal S, Fuentes Prior P, Barceló M, Also E, Martínez Hernández R, et al. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet. 2009;125:29-39 pubmed publisher
    ..An SMN-SMN dimer model featuring tight hydrophobic-aromatic interactions is proposed to explain the impact of mutations at the C-terminal end of the protein. ..
  10. Aranda J, Garrido M, Fittipaldi N, Cortés P, Llagostera M, Gottschalk M, et al. Protective capacities of cell surface-associated proteins of Streptococcus suis mutants deficient in divalent cation-uptake regulators. Microbiology. 2009;155:1580-7 pubmed publisher
    ..038) against a challenge to mice vaccinated with them. ..
  11. Gonzalez M, Gutiérrez A, Gassió R, Fusté M, Vilaseca M, Campistol J. Neurological complications and behavioral problems in patients with phenylketonuria in a follow-up unit. Mol Genet Metab. 2011;104 Suppl:S73-9 pubmed publisher
    ..001). The results show the impact of early diagnosis and good dietary treatment on the IQ and on the percentage of neurological complications and behavioral problems in PKU patients. ..
  12. Dienstmann R, Rodon J, Barretina J, Tabernero J. Genomic medicine frontier in human solid tumors: prospects and challenges. J Clin Oncol. 2013;31:1874-84 pubmed publisher
  13. Karachaliou N, Codony Servat J, Teixidó C, Pilotto S, Drozdowskyj A, Codony Servat C, et al. BIM and mTOR expression levels predict outcome to erlotinib in EGFR-mutant non-small-cell lung cancer. Sci Rep. 2015;5:17499 pubmed publisher
    ..These data suggest that the combination of EGFR TKI with mTOR or PDE4 inhibitors could be adequate therapy for EGFR-mutant NSCLC patients with high pretreatment levels of BIM and mTOR. ..
  14. Mohammad F, Weissmann S, Leblanc B, Pandey D, Højfeldt J, Comet I, et al. EZH2 is a potential therapeutic target for H3K27M-mutant pediatric gliomas. Nat Med. 2017;23:483-492 pubmed publisher
    ..Taken together, these results show that residual PRC2 activity is required for the proliferation of H3K27M-expressing DIPGs, and that inhibition of EZH2 is a potential therapeutic strategy for the treatment of these tumors. ..
  15. Loibl S, de la Peña L, Nekljudova V, Zardavas D, Michiels S, Denkert C, et al. Neoadjuvant buparlisib plus trastuzumab and paclitaxel for women with HER2+ primary breast cancer: A randomised, double-blind, placebo-controlled phase II trial (NeoPHOEBE). Eur J Cancer. 2017;85:133-145 pubmed publisher
    ..nct01816594. ..
  16. Mallolas J, Campistol J, Lambruschini N, Vilaseca M, Cambra F, Estivill X, et al. Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online. Hum Mutat. 1998;11:482 pubmed
  17. Panicot M, Minguet E, Ferrando A, Alcázar R, Blázquez M, Carbonell J, et al. A polyamine metabolon involving aminopropyl transferase complexes in Arabidopsis. Plant Cell. 2002;14:2539-51 pubmed
    ..Our data demonstrate the existence of a metabolon involving at least the last two steps of polyamine biosynthesis in Arabidopsis. ..
  18. Fernández Fernández J, Tomas M, Vazquez E, Orio P, Latorre R, Senti M, et al. Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension. J Clin Invest. 2004;113:1032-9 pubmed
    ..In conclusion, the BK-beta(1E65K) channel might offer a more efficient negative-feedback effect on vascular smooth muscle contractility, consistent with a protective effect of the K allele against the severity of diastolic hypertension. ..
  19. Ruiz A, Munoz I, Serrano R, González A, Simon E, Arino J. Functional characterization of the Saccharomyces cerevisiae VHS3 gene: a regulatory subunit of the Ppz1 protein phosphatase with novel, phosphatase-unrelated functions. J Biol Chem. 2004;279:34421-30 pubmed
    ..These results indicate that, besides its role as Ppz1 inhibitory subunit, Vhs3 (and probably Hal3) might have important Ppz-independent functions. ..
  20. Munné Bosch S, Shikanai T, Asada K. Enhanced ferredoxin-dependent cyclic electron flow around photosystem I and alpha-tocopherol quinone accumulation in water-stressed ndhB-inactivated tobacco mutants. Planta. 2005;222:502-11 pubmed
  21. Ruiz A, González A, García Salcedo R, Ramos J, Arino J. Role of protein phosphatases 2C on tolerance to lithium toxicity in the yeast Saccharomyces cerevisiae. Mol Microbiol. 2006;62:263-77 pubmed
    ..These results indicate that Ptc1p modulates the function of Ena1p by regulating the Hal3/Ppz1,2 pathway. In conclusion, overexpression of PTC3 and lack of PTC1 affect lithium tolerance in yeast, although through different mechanisms. ..
  22. Gaig C, Ezquerra M, Marti M, Valldeoriola F, Muñoz E, Lladó A, et al. Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration. J Neurol Sci. 2008;270:94-8 pubmed publisher
    ..LRRK2 mutations were not encountered in other neurodegenerative disorders associated with synuclein and tau deposition. ..
  23. Diaz A, Martínez Pons C, Fita I, Ferrer J, Guinovart J. Processivity and subcellular localization of glycogen synthase depend on a non-catalytic high affinity glycogen-binding site. J Biol Chem. 2011;286:18505-14 pubmed publisher
    ..These observations demonstrate that the glycogen-binding site is a critical regulatory element responsible for the in vivo catalytic efficiency of GS. ..
  24. Ruiz Herguido C, Guiu J, D Altri T, Inglés Esteve J, Dzierzak E, Espinosa L, et al. Hematopoietic stem cell development requires transient Wnt/?-catenin activity. J Exp Med. 2012;209:1457-68 pubmed publisher
    ..Together, those findings indicate that Wnt/?-catenin activity is needed for the emergence but not the maintenance of HSCs in mouse embryos. ..
  25. Villamor N, Conde L, Martínez Trillos A, Cazorla M, Navarro A, Bea S, et al. NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome. Leukemia. 2013;27:1100-6 pubmed publisher
    ..This recently identified genetic subgroup of CLL patients deserves prospective studies to define their best management. ..
  26. Latasiewicz M, Fontecilla C, Milla E, Sanchez A. Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations. Can J Ophthalmol. 2016;51:113-8 pubmed publisher
    ..Myopia was the most frequent ocular involvement. Patients with a PTC mutation revealed to have a smaller risk of EL; however, more studies are required to indicate the mechanism of the correlation. ..
  27. Paytubi S, Madrid C, Forns N, Nieto J, Balsalobre C, Uhlin B, et al. YdgT, the Hha paralogue in Escherichia coli, forms heteromeric complexes with H-NS and StpA. Mol Microbiol. 2004;54:251-63 pubmed
    ..The StpA protein, which is subjected to Lon-mediated turnover, was less stable in the absence of Hha or YdgT. Our findings suggest that Hha, YdgT and StpA may form complexes in vivo. ..
  28. García Escarp M, Martínez Muñoz V, Sales Pardo I, Barquinero J, Domingo J, Marin P, et al. Flow cytometry-based approach to ABCG2 function suggests that the transporter differentially handles the influx and efflux of drugs. Cytometry A. 2004;62:129-38 pubmed
    ..This study also demonstrates that flow cytometry constitutes a powerful tool for the kinetic analysis of ABC transporters. ..
  29. Abal M, Planaguma J, Gil Moreno A, Monge M, Gonzalez M, Baro T, et al. Molecular pathology of endometrial carcinoma: transcriptional signature in endometrioid tumors. Histol Histopathol. 2006;21:197-204 pubmed publisher
  30. Lladó A, Sanchez Valle R, Rey M, Ezquerra M, Tolosa E, Ferrer I, et al. Clinicopathological and genetic correlates of frontotemporal lobar degeneration and corticobasal degeneration. J Neurol. 2008;255:488-94 pubmed publisher
    ..The presence of signs of lower MND and SD correlated with FTLD-U.A genetic study of MAPT is only recommended when familial history of early onset DFT is present. ..
  31. Hernandez S, de Muga S, Agell L, Juanpere N, Esgueva R, Lorente J, et al. FGFR3 mutations in prostate cancer: association with low-grade tumors. Mod Pathol. 2009;22:848-56 pubmed publisher
    ..This gene does not seem to be central to the pathogenesis of prostate cancer, but it is significantly associated with a subgroup of low-grade prostate tumors, and with the finding of other tumors, mainly arising in bladder and skin. ..
  32. Lladó A, Fortea J, Ojea T, Bosch B, Sanz P, Valls Sole J, et al. A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression. Eur J Neurol. 2010;17:994-6 pubmed publisher
    ..The K239N mutation is associated with autosomal dominant AD with a wide range of age of onset and incomplete penetrance at the age of 65, prominent behavioural features and slow progression. ..
  33. Grillo M, Furriols M, Casanova J, Luschnig S. Control of germline torso expression by the BTB/POZ domain protein pipsqueak is required for embryonic terminal patterning in Drosophila. Genetics. 2011;187:513-21 pubmed publisher
  34. Monteiro F, Sole M, van Dijk I, Valls M. A chromosomal insertion toolbox for promoter probing, mutant complementation, and pathogenicity studies in Ralstonia solanacearum. Mol Plant Microbe Interact. 2012;25:557-68 pubmed publisher
    ..These novel genetic tools will be particularly useful for the construction of recombinant bacteria that maintain inserted genes or reporter fusions in competitive situations (i.e., during plant infection)...
  35. Sancho A, Duran J, Garcia Espana A, Mauvezin C, Alemu E, Lamark T, et al. DOR/Tp53inp2 and Tp53inp1 constitute a metazoan gene family encoding dual regulators of autophagy and transcription. PLoS ONE. 2012;7:e34034 pubmed publisher
    ..Taken together, our data reveal DOR and TP53INP1 as dual regulators of transcription and autophagy, and identify two conserved regions in the DOR family that concentrate multiple functions crucial for autophagy and transcription. ..
  36. Navarro Sastre A, Tort F, Garcia Villoria J, Pons M, Nascimento A, Colomer J, et al. Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. Mol Genet Metab. 2012;107:409-15 pubmed publisher
    ..The ratio (mtDNA/nDNA)/CS has shed some light in the discrepant results between the mtDNA copy number and the enzymatic respiratory chain activities of some cases. ..
  37. Reyes D, Ballare C, Castellano G, Soronellas D, Bagó J, Blanco J, et al. Activation of mitogen- and stress-activated kinase 1 is required for proliferation of breast cancer cells in response to estrogens or progestins. Oncogene. 2014;33:1570-80 pubmed publisher
  38. Supek F, Minana B, Valcarcel J, Gabaldón T, Lehner B. Synonymous mutations frequently act as driver mutations in human cancers. Cell. 2014;156:1324-1335 pubmed publisher
    ..In addition, our analyses suggest that dosage-sensitive oncogenes have selected mutations in their 3' UTRs. ..
  39. Manso Y, Comes G, López Ramos J, Belfiore M, Molinero A, Giralt M, et al. Overexpression of Metallothionein-1 Modulates the Phenotype of the Tg2576 Mouse Model of Alzheimer's Disease. J Alzheimers Dis. 2016;51:81-95 pubmed publisher
    ..These results clearly suggest that MT-1 may be involved in AD pathogenesis. ..
  40. Soria J, Almasy L, Souto J, Bacq D, Buil A, Faure A, et al. A quantitative-trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease. Am J Hum Genet. 2002;70:567-74 pubmed
  41. Diez O, Osorio A, Duran M, Martinez Ferrandis J, de la Hoya M, Salazar R, et al. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat. 2003;22:301-12 pubmed
    ..Knowledge of the spectrum of mutations and their geographical distribution in Spain will allow a more effective detection strategy in countries with large Spanish populations. ..
  42. Sanchez G, Bosch A, Gomez Mariano G, Domingo E, Pinto R. Evidence for quasispecies distributions in the human hepatitis A virus genome. Virology. 2003;315:34-42 pubmed
    ..The results indicate that despite antigenic conservation, HAV replicates as a complex distribution of mutants, a feature of viral quasispecies...
  43. Gonzalo R, Garcia Arumi E, Llige D, Marti R, Solano A, Montoya J, et al. Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA. FEBS Lett. 2005;579:6909-13 pubmed
    ..We suggest that mutations in mtDNA affecting complex I activity may result in oxidative cellular damage, and reinforce the possible role of ROS-mediated mechanisms participating in some mtDNA-related disorders. ..
  44. To Figueras J, Badenas C, Carrera C, Munoz C, Mila M, Lecha M, et al. Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation. J Inherit Metab Dis. 2006;29:580-5 pubmed
    ..These results reinforce the hypothesis that the R173W mutation may have a high biochemical and clinical penetrance among AIP patients. ..
  45. Luco R, Maestro M, del Pozo N, Philbrick W, de la Ossa P, Ferrer J. A conditional model reveals that induction of hepatocyte nuclear factor-1alpha in Hnf1alpha-null mutant beta-cells can activate silenced genes postnatally, whereas overexpression is deleterious. Diabetes. 2006;55:2202-11 pubmed
    ..This finding illustrates the paramount importance of using the correct concentration of a beta-cell transcription factor in both gene therapy and artificial differentiation strategies. ..
  46. Pinyol M, Salaverria I, Bea S, Fernandez V, Colomo L, Campo E, et al. Unbalanced expression of licensing DNA replication factors occurs in a subset of mantle cell lymphomas with genomic instability. Int J Cancer. 2006;119:2768-74 pubmed
    ..These results suggest that an unbalanced mRNA expression of licensing regulatory genes may play a role in the pathogenesis of the chromosomal instability of a subset of MCL with inactivation of the p53/p14(ARF) pathway. ..
  47. Canals R, Jimenez N, Vilches S, Regue M, Merino S, Tomas J. Role of Gne and GalE in the virulence of Aeromonas hydrophila serotype O34. J Bacteriol. 2007;189:540-50 pubmed
    ..hydrophila mutant strains or the complemented mutants, allowed us to confirm a clear relationship between the virulence of these strains and the presence/absence of the O34 antigen LPS. ..
  48. Alvarez Errico D, Sayos J, Lopez Botet M. The IREM-1 (CD300f) inhibitory receptor associates with the p85alpha subunit of phosphoinositide 3-kinase. J Immunol. 2007;178:808-16 pubmed
    ..e., wortmannin and LY-294002). Altogether, these data reveal a putative functional duality of the IREM-1 myeloid cell receptor. ..
  49. Crous Bou M, Porta M, López T, Jariod M, Malats N, Alguacil J, et al. Lifetime history of tobacco consumption and K-ras mutations in exocrine pancreatic cancer. Pancreas. 2007;35:135-41 pubmed
    ..Tobacco does not play a major part in the acquisition of K-ras mutations in the pancreatic epithelium. Although both smoking and K-ras mutations have important roles in the etiopathogenesis of EPC, the 2 processes may act independently. ..
  50. Macías Vidal J, Gort L, Lluch M, Pineda M, Coll M. Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain. Mol Genet Metab. 2009;97:60-4 pubmed publisher
    ..In conclusion, we confirmed that NMD process is responsible for the mRNA decay for all the analyzed NPC1 PTC-encoding mutations...
  51. Seira O, Gavin R, Gil V, Llorens F, Rangel A, Soriano E, et al. Neurites regrowth of cortical neurons by GSK3beta inhibition independently of Nogo receptor 1. J Neurochem. 2010;113:1644-58 pubmed publisher
    ..These results provide new findings for the development of new assays and strategies to enhance axon regeneration in injured cortical connections. ..
  52. Ruiz F, Moro A, Gallego O, Ardèvol A, Rovira C, Petrash J, et al. Human and rodent aldo-keto reductases from the AKR1B subfamily and their specificity with retinaldehyde. Chem Biol Interact. 2011;191:199-205 pubmed publisher
    ..We demonstrate that besides Lys125, Ser304 is a major structural determinant for all-trans-retinaldehyde specificity of AKR1B10. ..
  53. Sentandreu M, Martín G, González Schain N, Leivar P, Soy J, Tepperman J, et al. Functional profiling identifies genes involved in organ-specific branches of the PIF3 regulatory network in Arabidopsis. Plant Cell. 2011;23:3974-91 pubmed publisher
    ..e., organ-specific) and temporal responses during the photomorphogenic program. ..
  54. Vilches S, Jimenez N, Merino S, Tomas J. The Aeromonas dsbA mutation decreased their virulence by triggering type III secretion system but not flagella production. Microb Pathog. 2012;52:130-9 pubmed publisher
    ..No disulfide bond formation in FlgI homologues in Aeromonas flagella biogenesis, either polar or lateral, could be expected according to their amino acid residues sequences. ..
  55. Mazzolini R, Dopeso H, Mateo Lozano S, Chang W, Rodrigues P, Bazzocco S, et al. Brush border myosin Ia has tumor suppressor activity in the intestine. Proc Natl Acad Sci U S A. 2012;109:1530-5 pubmed publisher
    ..These results identify MYO1A as a unique tumor-suppressor gene in colorectal cancer and demonstrate that the loss of structural brush border proteins involved in cell polarity are important for tumor development. ..
  56. Lopez C, Delgado J, Costa D, Conde L, Ghita G, Villamor N, et al. Different distribution of NOTCH1 mutations in chronic lymphocytic leukemia with isolated trisomy 12 or associated with other chromosomal alterations. Genes Chromosomes Cancer. 2012;51:881-9 pubmed publisher
    ..001). These findings indicate that the distribution of NOTCH1 mutations in CLL with trisomy 12 is heterogeneous and that the presence of additional chromosomal abnormalities such as trisomy 18 could change the prognosis of these patients...
  57. Wodke J, Puchałka J, Lluch Senar M, Marcos J, Yus E, Godinho M, et al. Dissecting the energy metabolism in Mycoplasma pneumoniae through genome-scale metabolic modeling. Mol Syst Biol. 2013;9:653 pubmed publisher
    ..pneumoniae. The experimentally validated model provides a solid basis for understanding its metabolic regulatory mechanisms...
  58. Cañueto J, Giros M, Gonzalez Sarmiento R. The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome. Biochim Biophys Acta. 2014;1841:336-44 pubmed publisher
    ..This article is part of a Special Issue entitled The Important Role of Lipids in the Epidermis and their Role in the Formation and Maintenance of the Cutaneous Barrier. Guest Editors: Kenneth R. Feingold and Peter Elias. ..
  59. González Pérez A, Perez Llamas C, Deu Pons J, Tamborero D, Schroeder M, Jene Sanz A, et al. IntOGen-mutations identifies cancer drivers across tumor types. Nat Methods. 2013;10:1081-2 pubmed publisher
    ..It provides support to cancer researchers, aids the identification of drivers across tumor cohorts and helps rank mutations for better clinical decision-making. ..
  60. Lupo V, García García F, Sancho P, Tello C, García Romero M, Villarreal L, et al. Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. J Mol Diagn. 2016;18:225-34 pubmed publisher
    ..These findings demonstrate the difficulty in achieving a definitive molecular diagnosis because of the complexity of interpreting new variants and the genetic heterogeneity that is associated with these neuropathies. ..
  61. Farrell P, White T, Howenstine M, Munck A, Parad R, Rosenfeld M, et al. Diagnosis of Cystic Fibrosis in Screened Populations. J Pediatr. 2017;181S:S33-S44.e2 pubmed publisher] should be used to aid with CF diagnosis. Finally, to avoid delays in treatment, we provide guidelines for presumptive diagnoses and recommend how to determine the age of diagnosis. ..
  62. van der Linden M, Otten J, Bergmann C, Latorre C, Liñares J, Hakenbeck R. Insight into the Diversity of Penicillin-Binding Protein 2x Alleles and Mutations in Viridans Streptococci. Antimicrob Agents Chemother. 2017;61: pubmed publisher
    ..The majority of the mutations clustered around the active site, whereas others are likely to affect stability or interactions with the C-terminal domain or partner proteins. ..
  63. Eskova A, Chauvigné F, Maischein H, Ammelburg M, Cerdà J, NUSSLEIN VOLHARD C, et al. Gain-of-function mutations in Aqp3a influence zebrafish pigment pattern formation through the tissue environment. Development. 2017;144:2059-2069 pubmed publisher
    ..These results demonstrate an important effect of the tissue environment on pigment cell behaviour and, thereby, on pattern formation. ..
  64. Boj S, Parrizas M, Maestro M, Ferrer J. A transcription factor regulatory circuit in differentiated pancreatic cells. Proc Natl Acad Sci U S A. 2001;98:14481-6 pubmed
    ..Furthermore, they indicate that hnf1alpha is an essential component of a transcription factor circuit whose role may be to maintain differentiated functions of pancreatic cells. ..
  65. Machin P, Catasus L, Pons C, Muñoz J, Matias Guiu X, Prat J. CTNNB1 mutations and beta-catenin expression in endometrial carcinomas. Hum Pathol. 2002;33:206-12 pubmed
    ..05). The results confirm that beta-catenin plays a role in endometrial carcinogenesis, particularly in endometrioid carcinomas. The results also suggest that MMP-7 and particularly cD may be targets of beta-catenin activation in ECs. ..
  66. Garrido M, Bosch M, Medina R, Llagostera M, Pérez De Rozas A, Badiola I, et al. The high-affinity zinc-uptake system znuACB is under control of the iron-uptake regulator (fur) gene in the animal pathogen Pasteurella multocida. FEMS Microbiol Lett. 2003;221:31-7 pubmed
    ..Furthermore, construction of defective mutants has demonstrated that P. multocida znuA and znuCB transcriptional units are required for virulence of this organism in a mouse model. ..
  67. Kumru H, Santamaria J, Tolosa E, Valldeoriola F, Muñoz E, Marti M, et al. Rapid eye movement sleep behavior disorder in parkinsonism with parkin mutations. Ann Neurol. 2004;56:599-603 pubmed
    ..In all instances, RBD followed the onset of motor symptoms by several years. Our study shows that RBD is frequent in Park2, suggesting that mechanisms other than synuclein deposition can cause RBD in neurodegenerative disorders. ..
  68. Carreras J, Villamor N, Colomo L, Moreno C, Ramon Y Cajal S, Crespo M, et al. Immunohistochemical analysis of ZAP-70 expression in B-cell lymphoid neoplasms. J Pathol. 2005;205:507-13 pubmed
  69. Gonzalez S, Blanco I, Campos O, Julià M, Reyes J, Llompart A, et al. Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands. Cancer Genet Cytogenet. 2005;158:70-4 pubmed
    ..Although this codon is a hot-spot, the haplotype analysis of these families is consistent for the presence of a founder effect of the 5-bp deletion at codon 1061 in FAP families in the Spanish Balearic Islands. ..
  70. Canete J, Arostegui J, Queiro R, Gratacos J, Hernández M, Larrosa M, et al. An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism. Arthritis Rheum. 2007;56:2784-8 pubmed
    ..This supports the hypothesis that it might be a susceptibility gene. Our findings also support the hypothesis that the MEFV gene might participate in the pathogenesis of other undifferentiated relapsing inflammatory rheumatic disorders. ..
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    ..3, 3.8 and 1.3% of CP patients, respectively. The percentage of N29I mutations in ACP patients was higher than that reported in other studies, while the percentage of N34S and AAT mutations in ACP and idiopathic CP patients was similar. ..
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    ..Haplotype analyses suggested that the two mutations (c.234+1G>A and c.372-2A>G) that were present in more than one patient have a common origin, including one (c.234+1G>A) that was found in Spanish and Moroccan patients. ..
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    ..This new previously unknown mechanism for G(1) cyclin degradation that we report here could help elucidate the specific roles of the redundant CDK-cyclin complexes in G(1). ..
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    ..4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis. ..
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    ..The GenoFlow array test showed good sensitivity and specificity compared to the phenotypic Bactec 460TB. This array accurately detected mutations inrpoB,katG, andinhAassociated with resistance to rifampin and isoniazid. ..
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    ..95 days, P = 0·003). In conclusion, CALR genotype is associated with a lower risk of leukaemic transformation. Leukaemia arising in a JAK2 V617F-negative clone is TP53 independent and shows better survival. ..
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    ..The possible causes for the salt sensitivity phenotype of casein kinase mutants are discussed in the light of these findings. ..
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    ..A study with a larger dog population would be required to prove the association of these sequence variants with disease susceptibility. ..
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    ..Our results are consistent with the participation of the Arabidopsis DXR gene in the control of the 2-C-methyl-D-erythritol 4-phosphate pathway. ..
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    ..enterocolitica strain which has acquired different mutations generating resistance to nalidixic acid. ..
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    ..These findings further expand knowledge of the genetic bases of muscle glycogen phosphorylase deficiency. ..
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    ..In conclusion, the level of expression of SMAD4 was found to be a more sensitive marker than 18q21 allelic imbalance and SMAD4 mutations, which were of no prognostic significance for these patients. ..
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    ..These results indicate a contribution of GAGA, dSAP18 and dRPD3/HDAC1 to the regulation of Fab-7 function. ..
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    ..Our data provide new insight into the role of low-level mosaicism in NLRP3 as the pathophysiologic mechanism underlying cryopyrin-associated periodic syndrome. ..