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Items: 40

1.

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J.

BMC Med Genomics. 2018 Jul 9;11(1):58. doi: 10.1186/s12920-018-0375-5.

2.

Evolutionary routes and KRAS dosage define pancreatic cancer phenotypes.

Mueller S, Engleitner T, Maresch R, Zukowska M, Lange S, Kaltenbacher T, Konukiewitz B, Öllinger R, Zwiebel M, Strong A, Yen HY, Banerjee R, Louzada S, Fu B, Seidler B, Götzfried J, Schuck K, Hassan Z, Arbeiter A, Schönhuber N, Klein S, Veltkamp C, Friedrich M, Rad L, Barenboim M, Ziegenhain C, Hess J, Dovey OM, Eser S, Parekh S, Constantino-Casas F, de la Rosa J, Sierra MI, Fraga M, Mayerle J, Klöppel G, Cadiñanos J, Liu P, Vassiliou G, Weichert W, Steiger K, Enard W, Schmid RM, Yang F, Unger K, Schneider G, Varela I, Bradley A, Saur D, Rad R.

Nature. 2018 Feb 1;554(7690):62-68. doi: 10.1038/nature25459. Epub 2018 Jan 24.

3.

Disentangling PTEN-cooperating tumor suppressor gene networks in cancer.

de la Rosa J, Weber J, Rad R, Bradley A, Cadiñanos J.

Mol Cell Oncol. 2017 May 4;4(4):e1325550. doi: 10.1080/23723556.2017.1325550. eCollection 2017.

4.

A novel molecular diagnostics platform for somatic and germline precision oncology.

Cabanillas R, Diñeiro M, Castillo D, Pruneda PC, Penas C, Cifuentes GA, de Vicente Á, Durán NS, Álvarez R, Ordóñez GR, Cadiñanos J.

Mol Genet Genomic Med. 2017 Apr 23;5(4):336-359. doi: 10.1002/mgg3.291. eCollection 2017 Jul.

5.

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

González-Acosta M, Del Valle J, Navarro M, Thompson BA, Iglesias S, Sanjuan X, Paúles MJ, Padilla N, Fernández A, Cuesta R, Teulé À, Plotz G, Cadiñanos J, de la Cruz X, Balaguer F, Lázaro C, Pineda M, Capellá G.

Fam Cancer. 2017 Oct;16(4):501-507. doi: 10.1007/s10689-017-9981-1.

PMID:
28365877
6.

A single-copy Sleeping Beauty transposon mutagenesis screen identifies new PTEN-cooperating tumor suppressor genes.

de la Rosa J, Weber J, Friedrich MJ, Li Y, Rad L, Ponstingl H, Liang Q, de Quirós SB, Noorani I, Metzakopian E, Strong A, Li MA, Astudillo A, Fernández-García MT, Fernández-García MS, Hoffman GJ, Fuente R, Vassiliou GS, Rad R, López-Otín C, Bradley A, Cadiñanos J.

Nat Genet. 2017 May;49(5):730-741. doi: 10.1038/ng.3817. Epub 2017 Mar 20.

7.

Genome-wide transposon screening and quantitative insertion site sequencing for cancer gene discovery in mice.

Friedrich MJ, Rad L, Bronner IF, Strong A, Wang W, Weber J, Mayho M, Ponstingl H, Engleitner T, Grove C, Pfaus A, Saur D, Cadiñanos J, Quail MA, Vassiliou GS, Liu P, Bradley A, Rad R.

Nat Protoc. 2017 Feb;12(2):289-309. doi: 10.1038/nprot.2016.164. Epub 2017 Jan 12.

PMID:
28079877
8.

CRISPR/Cas9 somatic multiplex-mutagenesis for high-throughput functional cancer genomics in mice.

Weber J, Öllinger R, Friedrich M, Ehmer U, Barenboim M, Steiger K, Heid I, Mueller S, Maresch R, Engleitner T, Gross N, Geumann U, Fu B, Segler A, Yuan D, Lange S, Strong A, de la Rosa J, Esposito I, Liu P, Cadiñanos J, Vassiliou GS, Schmid RM, Schneider G, Unger K, Yang F, Braren R, Heikenwälder M, Varela I, Saur D, Bradley A, Rad R.

Proc Natl Acad Sci U S A. 2015 Nov 10;112(45):13982-7. doi: 10.1073/pnas.1512392112. Epub 2015 Oct 27.

9.

A conditional piggyBac transposition system for genetic screening in mice identifies oncogenic networks in pancreatic cancer.

Rad R, Rad L, Wang W, Strong A, Ponstingl H, Bronner IF, Mayho M, Steiger K, Weber J, Hieber M, Veltkamp C, Eser S, Geumann U, Öllinger R, Zukowska M, Barenboim M, Maresch R, Cadiñanos J, Friedrich M, Varela I, Constantino-Casas F, Sarver A, Ten Hoeve J, Prosser H, Seidler B, Bauer J, Heikenwälder M, Metzakopian E, Krug A, Ehmer U, Schneider G, Knösel T, Rümmele P, Aust D, Grützmann R, Pilarsky C, Ning Z, Wessels L, Schmid RM, Quail MA, Vassiliou G, Esposito I, Liu P, Saur D, Bradley A.

Nat Genet. 2015 Jan;47(1):47-56. doi: 10.1038/ng.3164. Epub 2014 Dec 8.

PMID:
25485836
10.

Systemic AA amyloidosis: epidemiology, diagnosis, and management.

Real de Asúa D, Costa R, Galván JM, Filigheddu MT, Trujillo D, Cadiñanos J.

Clin Epidemiol. 2014 Oct 29;6:369-77. doi: 10.2147/CLEP.S39981. eCollection 2014. Review.

11.

[Systemic secondary AA amyloidosis].

Cadiñanos J, Costa R, Trujillo D, Real de Asúa D.

Med Clin (Barc). 2015 Apr 8;144(7):324-30. doi: 10.1016/j.medcli.2014.05.024. Epub 2014 Jul 11. Review. Spanish. No abstract available.

PMID:
25023854
12.

Cell-cell adhesion genes CTNNA2 and CTNNA3 are tumour suppressors frequently mutated in laryngeal carcinomas.

Fanjul-Fernández M, Quesada V, Cabanillas R, Cadiñanos J, Fontanil T, Obaya A, Ramsay AJ, Llorente JL, Astudillo A, Cal S, López-Otín C.

Nat Commun. 2013;4:2531. doi: 10.1038/ncomms3531.

PMID:
24100690
13.

Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion.

de la Rosa J, Freije JM, Cabanillas R, Osorio FG, Fraga MF, Fernández-García MS, Rad R, Fanjul V, Ugalde AP, Liang Q, Prosser HM, Bradley A, Cadiñanos J, López-Otín C.

Nat Commun. 2013;4:2268. doi: 10.1038/ncomms3268.

14.

A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention.

Rad R, Cadiñanos J, Rad L, Varela I, Strong A, Kriegl L, Constantino-Casas F, Eser S, Hieber M, Seidler B, Price S, Fraga MF, Calvanese V, Hoffman G, Ponstingl H, Schneider G, Yusa K, Grove C, Schmid RM, Wang W, Vassiliou G, Kirchner T, McDermott U, Liu P, Saur D, Bradley A.

Cancer Cell. 2013 Jul 8;24(1):15-29. doi: 10.1016/j.ccr.2013.05.014.

15.

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

Borràs E, Pineda M, Cadiñanos J, Del Valle J, Brieger A, Hinrichsen I, Cabanillas R, Navarro M, Brunet J, Sanjuan X, Musulen E, van der Klift H, Lázaro C, Plotz G, Blanco I, Capellá G.

J Med Genet. 2013 Aug;50(8):552-63. doi: 10.1136/jmedgenet-2012-101511. Epub 2013 May 24.

PMID:
23709753
16.

The piggyBac transposon displays local and distant reintegration preferences and can cause mutations at noncanonical integration sites.

Li MA, Pettitt SJ, Eckert S, Ning Z, Rice S, Cadiñanos J, Yusa K, Conte N, Bradley A.

Mol Cell Biol. 2013 Apr;33(7):1317-30. doi: 10.1128/MCB.00670-12. Epub 2013 Jan 28.

17.

Novel germline CDKN2A mutation associated with head and neck squamous cell carcinomas and melanomas.

Cabanillas R, Astudillo A, Valle M, de la Rosa J, Álvarez R, Durán NS, Cadiñanos J.

Head Neck. 2013 Mar;35(3):E80-4. doi: 10.1002/hed.21911. Epub 2011 Nov 15.

PMID:
22083977
18.

Splicing-directed therapy in a new mouse model of human accelerated aging.

Osorio FG, Navarro CL, Cadiñanos J, López-Mejía IC, Quirós PM, Bartoli C, Rivera J, Tazi J, Guzmán G, Varela I, Depetris D, de Carlos F, Cobo J, Andrés V, De Sandre-Giovannoli A, Freije JM, Lévy N, López-Otín C.

Sci Transl Med. 2011 Oct 26;3(106):106ra107. doi: 10.1126/scitranslmed.3002847.

19.

Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.

Cabanillas R, Cadiñanos J, Villameytide JA, Pérez M, Longo J, Richard JM, Alvarez R, Durán NS, Illán R, González DJ, López-Otín C.

Am J Med Genet A. 2011 Nov;155A(11):2617-25. doi: 10.1002/ajmg.a.34249. Epub 2011 Sep 19.

PMID:
21932319
20.

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.

Puente XS, Quesada V, Osorio FG, Cabanillas R, Cadiñanos J, Fraile JM, Ordóñez GR, Puente DA, Gutiérrez-Fernández A, Fanjul-Fernández M, Lévy N, Freije JM, López-Otín C.

Am J Hum Genet. 2011 May 13;88(5):650-6. doi: 10.1016/j.ajhg.2011.04.010. Epub 2011 May 5.

21.

Aging and chronic DNA damage response activate a regulatory pathway involving miR-29 and p53.

Ugalde AP, Ramsay AJ, de la Rosa J, Varela I, Mariño G, Cadiñanos J, Lu J, Freije JM, López-Otín C.

EMBO J. 2011 Jun 1;30(11):2219-32. doi: 10.1038/emboj.2011.124. Epub 2011 Apr 26.

22.

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G.

Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26.

23.

Telomerase reactivation reverses tissue degeneration in aged telomerase-deficient mice.

Jaskelioff M, Muller FL, Paik JH, Thomas E, Jiang S, Adams AC, Sahin E, Kost-Alimova M, Protopopov A, Cadiñanos J, Horner JW, Maratos-Flier E, Depinho RA.

Nature. 2011 Jan 6;469(7328):102-6. doi: 10.1038/nature09603. Epub 2010 Nov 28.

24.

PiggyBac transposon mutagenesis: a tool for cancer gene discovery in mice.

Rad R, Rad L, Wang W, Cadinanos J, Vassiliou G, Rice S, Campos LS, Yusa K, Banerjee R, Li MA, de la Rosa J, Strong A, Lu D, Ellis P, Conte N, Yang FT, Liu P, Bradley A.

Science. 2010 Nov 19;330(6007):1104-7. doi: 10.1126/science.1193004. Epub 2010 Oct 14.

25.

Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma.

Cadiñanos J, Llorente JL, de la Rosa J, Villameytide JA, Illán R, Durán NS, Murias E, Cabanillas R.

Head Neck. 2011 Aug;33(8):1233-40. doi: 10.1002/hed.21384. Epub 2010 Mar 22.

PMID:
20310044
26.

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.

Varela I, Pereira S, Ugalde AP, Navarro CL, Suárez MF, Cau P, Cadiñanos J, Osorio FG, Foray N, Cobo J, de Carlos F, Lévy N, Freije JM, López-Otín C.

Nat Med. 2008 Jul;14(7):767-72. doi: 10.1038/nm1786. Epub 2008 Jun 29.

PMID:
18587406
27.

Premature aging in mice activates a systemic metabolic response involving autophagy induction.

Mariño G, Ugalde AP, Salvador-Montoliu N, Varela I, Quirós PM, Cadiñanos J, van der Pluijm I, Freije JM, López-Otín C.

Hum Mol Genet. 2008 Jul 15;17(14):2196-211. doi: 10.1093/hmg/ddn120. Epub 2008 Apr 28.

PMID:
18443001
28.

Nuclear envelope defects cause stem cell dysfunction in premature-aging mice.

Espada J, Varela I, Flores I, Ugalde AP, Cadiñanos J, Pendás AM, Stewart CL, Tryggvason K, Blasco MA, Freije JM, López-Otín C.

J Cell Biol. 2008 Apr 7;181(1):27-35. doi: 10.1083/jcb.200801096. Epub 2008 Mar 31.

29.

Generation of an inducible and optimized piggyBac transposon system.

Cadiñanos J, Bradley A.

Nucleic Acids Res. 2007;35(12):e87. Epub 2007 Jun 18.

30.

Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions.

Ramírez CL, Cadiñanos J, Varela I, Freije JM, López-Otín C.

Cell Mol Life Sci. 2007 Jan;64(2):155-70. Review.

PMID:
17131053
31.

From immature lamin to premature aging: molecular pathways and therapeutic opportunities.

Cadiñanos J, Varela I, López-Otín C, Freije JM.

Cell Cycle. 2005 Dec;4(12):1732-5. Epub 2005 Dec 23.

PMID:
16258283
32.

Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.

Varela I, Cadiñanos J, Pendás AM, Gutiérrez-Fernández A, Folgueras AR, Sánchez LM, Zhou Z, Rodríguez FJ, Stewart CL, Vega JA, Tryggvason K, Freije JM, López-Otín C.

Nature. 2005 Sep 22;437(7058):564-8. Epub 2005 Aug 3.

PMID:
16079796
33.

Genomic instability in laminopathy-based premature aging.

Liu B, Wang J, Chan KM, Tjia WM, Deng W, Guan X, Huang JD, Li KM, Chau PY, Chen DJ, Pei D, Pendas AM, Cadiñanos J, López-Otín C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z.

Nat Med. 2005 Jul;11(7):780-5. Epub 2005 Jun 26.

PMID:
15980864
34.

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N.

Hum Mol Genet. 2005 Jun 1;14(11):1503-13. Epub 2005 Apr 20.

PMID:
15843403
35.

AtFACE-2, a functional prenylated protein protease from Arabidopsis thaliana related to mammalian Ras-converting enzymes.

Cadiñanos J, Varela I, Mandel DA, Schmidt WK, Díaz-Perales A, López-Otín C, Freije JM.

J Biol Chem. 2003 Oct 24;278(43):42091-7. Epub 2003 Aug 19.

36.

Identification, functional expression and enzymic analysis of two distinct CaaX proteases from Caenorhabditis elegans.

Cadiñanos J, Schmidt WK, Fueyo A, Varela I, López-Otín C, Freije JM.

Biochem J. 2003 Mar 15;370(Pt 3):1047-54.

37.

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice.

Pendás AM, Zhou Z, Cadiñanos J, Freije JM, Wang J, Hultenby K, Astudillo A, Wernerson A, Rodríguez F, Tryggvason K, López-Otín C.

Nat Genet. 2002 May;31(1):94-9. Epub 2002 Apr 1.

PMID:
11923874
38.

Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins.

Freije JM, Blay P, Pendás AM, Cadiñanos J, Crespo P, López-Otín C.

Genomics. 1999 Jun 15;58(3):270-80.

PMID:
10373325
39.

Un caso de gangrena cutanea progresiva postoperatoria de origen no abdominal.

NAVARRO MARTIN A, CADINANOS JM.

Actas Dermosifiliogr. 1947 Feb;38(5):435-40. Undetermined Language. No abstract available.

PMID:
20244389
40.

Un caso de sodoku (fiebre por mordedura de ratas).

NAVARRO MARTIN A, CADINANOS JM.

Actas Dermosifiliogr. 1947 Jan;38(4):333-45. Undetermined Language. No abstract available.

PMID:
20244376

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