المؤلفون: JANIER, MICHEL, AGBALIKA, FÉLIX, DE LA SALMONIÈRE, PAULINE, LASSAU, FRANÇOIS, LAGRANGE, PHILIPPE, MOREL, PATRICE

المصدر: Sexually Transmitted Diseases, 2002 Nov 01. 29(11), 698-702.

الوصول الحر: https://www.jstor.org/stable/44965602Test

المؤلفون: CASIN, ISABELLE, VEXIAU-ROBERT, DOMINIQUE, DE LA SALMONIÈRE, PAULINE, ECHE, ALINE, GRANDRY, BERNADETTE, JANIER, MICHEL

المصدر: Sexually Transmitted Diseases, 2002 Jun 01. 29(6), 353-359.

الوصول الحر: https://www.jstor.org/stable/44965675Test

المؤلفون: Tancrède-Bohin, Emmanuelle, Ionescu, Marius Anton, de La Salmonière, Pauline, Dupuy, Alain, Rivet, Jacqueline, Rybojad, Michel, Dubertret, Louis, Bachelez, Hervé, Lebbé, Celeste, Morel, Patrice

المصدر: Archives of Dermatology ; volume 140, issue 9 ; ISSN 0003-987X

الإتاحة: https://doi.org/10.1001/archderm.140.9.1057Test
http://jamanetwork.com/journals/jamadermatology/fullarticle/480767Test

المؤلفون: le Pelletier, Francois, Janin, Anne, Soufir, Nadem, de La Salmoniere, Pauline, Basset-Seguin, Nicole

المصدر: Journal of Investigative Dermatology ; volume 117, issue 5, page 1324-1325 ; ISSN 0022-202X

مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1046/j.1523-1747.2001.t01-1-15292.xTest
https://api.elsevier.com/content/article/PII:S0022202X15414617?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022202X15414617?httpAccept=text/plainTest

المؤلفون: Soufir, Nadem, Daya-Grosjean, Leela, de La Salmonière, Pauline, Moles, Jean-Pierre, Dubertret, Louis, Sarasin, Alain, Basset-Seguin, Nicole

مصطلحات موضوعية: REPORTS

الوصف: Background: The INK4a-ARF locus encodes two tumor suppressor proteins, p16INK4a and p14ARF, that act through the Rb-CDK4 and p53 pathways, respectively. Data from murine models and sporadic human skin carcinomas implicate p16INK4a and p14ARF in the development of skin carcinomas. We examined the frequency of INK4a-ARF, p53, and CDK4 mutations in skin carcinomas from patients with xeroderma pigmentosum (XP), a rare autosomal disease that is associated with a defect in DNA repair and that predisposes patients to skin cancer. Methods: DNA from skin cancers of 28 unrelated XP patients was screened for mutations in p53, INK4a-ARF, and CDK4 coding exons by single-strand conformation polymorphism analysis and automated sequencing. Data were evaluated with the use of the exact unconditional test derived from Fisher's test. All statistical tests were two-sided. Results: Eight of 28 XP-associated tumors had mutations in the INK4a-ARF locus. Three XP-associated tumors had multiple mutations at this locus. In all, 13 mutations in the INK4a-ARF locus were detected in XP-associated tumors, of which seven (54%) were signature UV radiation-induced mutations, i.e., tandem CC : GG→TT : AA transitions. p53 mutations, mostly of the type induced by UV radiation, were present in 12 tumors (43%). Statistically significant positive associations were found between the frequency of mutations in p53 and in p16INK4a ( P = .008) and between the frequency of mutations in p53 and in p14ARF ( P <.001). No mutations were detected within the CDK4 gene. Conclusions: We have demonstrated for the first time the occurrence of UV radiation-induced mutations in INK4a-ARF in XP-associated skin carcinomas. The simultaneous inactivation of p53 and INK4a-ARF may be linked to the genetic instability caused by XP and could be advantageous for tumor progression.

وصف الملف: text/html

العلاقة: http://jnci.oxfordjournals.org/cgi/content/short/92/22/1841Test; http://dx.doi.org/10.1093/jnci/92.22.1841Test

الإتاحة: https://doi.org/10.1093/jnci/92.22.1841Test
http://jnci.oxfordjournals.org/cgi/content/short/92/22/1841Test

المؤلفون: Cuer, Maryvonne, Barnier, Anne, de La Salmoniere, Pauline, Durand, Geneviève, Seta, Nathalie

المصدر: Clinical Chemistry ; volume 46, issue 4, page 560-576 ; ISSN 0009-9147 1530-8561

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry

الإتاحة: https://doi.org/10.1093/clinchem/46.4.560fTest
http://academic.oup.com/clinchem/article-pdf/46/4/560/32725305/clinchem0560f.pdfTest

المؤلفون: Li, Xiaxin, Leteurtre, François, Rocha, Vanderson, Guardiola, Philippe, Berger, Roland, Daniel, Marie‐Therese, Noguera, Maria Helena, Maarek, Odile, Roux, Gwenaëlle L. E., De La Salmonière, Pauline, Richard, Patrice, Gluckman, Eliane

المصدر: British Journal of Haematology ; volume 120, issue 5, page 836-845 ; ISSN 0007-1048 1365-2141

الوصف: Summary. Fanconi's anaemia (FA) is an autosomal recessive disorder characterized by progressive bone marrow failure and a susceptibility to cancer. Haematopoietic stem cell transplantation is the only curative method for restoring normal haematopoiesis, and survival is improved if the transplant is carried out before severe complications occur. However, the evolution of FA is difficult to predict because of the absence of known prognostic factors and the unknown function of the genes involved. In studying 71 FA patients, a correlation was found between severe aplastic anaemia (SAA) and the individual annual telomere‐shortening rate (IATSR) in peripheral blood mononuclear cells ( P < 10 −3 ). Spontaneous apoptosis was highest in SAA patients or patients with high IATSR (> 200 bp/year) ( P < 0·01, n = 18). Univariate and multivariate analyses showed that significant relative risks for evolution towards SAA were high IATSR ( P < 10 −4 ), and that a high number of chromosome breakages occurred in the presence of nitrogen mustard ( P < 0·001). A high IATSR was also associated with an increased frequency of malignancy ( P < 0·01). Thus, these biological parameters were related to the spontaneous evolution of FA and could be used as prognostic factors. These data indicated that telomeres might play a role in the evolution of bone marrow failure and malignant transformation in FA.

الإتاحة: https://doi.org/10.1046/j.1365-2141.2003.04225.xTest

المؤلفون: Viguier, Manuelle, Fouéré, Sébastien, De La Salmonière, Pauline, Rabian, Claire, Lebbe, Céleste, Dubertret, Louis, Morel, Patrice, Bachelez, Hervé

المصدر: Medicine ; volume 82, issue 2, page 82-86 ; ISSN 0025-7974

الإتاحة: https://doi.org/10.1097/00005792-200303000-00002Test
https://journals.lww.com/00005792-200303000-00002Test

المؤلفون: VIGUIER, MANUELLE, PINQUIER, LAURE, CAVELIER-BALLOY, BÉNÉDICTE, DE LA SALMONIÈRE, PAULINE, CORDOLIANI, FLORENCE, FLAGEUL, BÉATRICE, MOREL, PATRICE, DUBERTRET, LOUIS, BACHELEZ, HERVÉ

المصدر: Medicine ; volume 80, issue 3, page 180-188 ; ISSN 0025-7974

الإتاحة: https://doi.org/10.1097/00005792-200105000-00004Test
https://journals.lww.com/00005792-200105000-00004Test

المؤلفون: Grob, Jean Jacques, Dreno, Brigitte, de la Salmoniere, Pauline, Delaunay, Michele, Cupissol, Didier, Guillot, Bernard, Souteyrand, Pierre, Sassolas, Bruno, Cesarini, Jean-Pierre, Lionnet, Sylvie, Lok, Catherine, Chastang, Claude, Bonerandi, Jean Jacques

المصدر: The Lancet ; volume 351, issue 9120, page 1905-1910 ; ISSN 0140-6736

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1016/s0140-6736Test(97)12445-x
https://api.elsevier.com/content/article/PII:S014067369712445X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S014067369712445X?httpAccept=text/plainTest