Search Results - "Sarmiento, R. Gonzalez"

Familial seborrhoeic keratosis associated with multiple ‘pure reticulated acanthomas’ and infundibulocystic basal cell carcinomas by Agustí Martínez, J., Bella‐Navarro, R., García‐García, A.B., Bueno, E., González‐Sarmiento, R., Navarro, L., Sanchez‐Sendra, B., Revert, A., Jordá, E., Monteagudo, C.

“…Summary Background A variety of genodermatoses with multiple cutaneous tumours and germline genetic alterations, such as PTCH1 mutations, have been described…”
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Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome by Alonso, N., Cañueto, J., Ciria, S., Bueno, E., Palacios‐Alvarez, I., Alegre, M., Badenas, C., Barreiro, A., Pena, L., Maldonado, C., Nespeira‐Jato, M.V., Peña‐Penabad, C., Azon, A., Gavrilova, M., Ferrer, I., Sanmartin, O., Robles, L., Hernandez‐Martin, A., Urioste, M., Puig, S., Puig, L., Gonzalez‐Sarmiento, R.

“…Summary Background Naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental alterations and multiple…”
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Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene by Hernández-Martín, A., Torrelo, A., Ciria, S., Colmenero, I., Aguilar, A., Grimalt, R., González-Sarmiento, R.

“…Summary Ectodermal dysplasia–skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by skin fragility, palmoplantar…”
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A genetic variant in the microRNA-146a gene is associated with susceptibility to alcohol use disorders by Novo-Veleiro, I, González-Sarmiento, R, Cieza-Borrella, C, Pastor, I, Laso, F.-J, Marcos, M

“…Abstract Background Polymorphisms in the microRNA (miRNA) regulatory pathways are novel functional genetic variants whose association with alcoholism…”
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Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population by Cañueto, J, Ciria, S, Hernández-Martín, A, Unamuno, P, González-Sarmiento, R

“…Background  Recessive X‐linked ichthyosis (RXLI) (OMIM 308100) is a genodermatosis characterized by polygonal, dark, adherent and mild‐to‐moderate scales that…”
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Analysis of the relationship between interleukin polymorphisms within miRNA-binding regions and alcoholic liver disease by Novo-Veleiro, I, Cieza-Borrella, C, Pastor, I, González-Sarmiento, R, Laso, F-J, Marcos, M

“…INTRODUCTIONAlcohol consumption promotes inflammation through the Toll-like receptor 4 (TLR4)/nuclear factor (NF)-?B pathway, leading to organic damage. Some…”
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Association of IL1Β (-511 A/C) and IL6 (-174 G > C) polymorphisms with higher disease activity and clinical pattern of psoriatic arthritis by Cubino, N., Montilla, C., Usategui-Martín, R., Cieza-Borrela, C., Carranco, T., Calero-Paniagua, I., Quesada, A., Cañete, J. D., Queiro, R., Sánchez, M. D., Hidalgo, C., Martínez, O., Del Pino-Montes, J., Díaz-Álvarez, A., González-Sarmiento, R.

“…The objective of this study is to analyze whether IL1β (-511G > A) and IL6 (-174 G > C) polymorphisms are associated with inflammatory activity, radiographic…”
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Role of XRCC3, XRCC1 and XPD single-nucleotide polymorphisms in survival outcomes following adjuvant chemotherapy in early stage breast cancer patients by Castro, E., Olmos, D., Garcia, A., Cruz, J. J., González-Sarmiento, R.

“…Introduction Anthracyclines have various mechanisms of action that in the end lead to DNA double-strand breaks. Single-nucleotide polymorphisms (SNPs) in DNA…”
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Evidence of the high prevalence of neurological disorders in nonsyndromic X‐linked recessive ichthyosis: a retrospective case series by Rodrigo‐Nicolás, B., Bueno‐Martínez, E., Martín‐Santiago, A., Cañueto, J., Vicente, A., Torrelo, A., Noguera‐Morel, L., Duat‐Rodríguez, A., Jorge‐Finnigan, C., Palacios‐Álvarez, I., García‐Hernández, J.L., Sebaratnam, D.F., González‐Sarmiento, R., Hernández‐Martín, A.

“…Summary Background X‐linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused by a deficiency in the steroid sulfatase (STS) enzyme…”
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X-linked ichthyosis: an update by Hernandez-Martin, A, Gonzalez-Sarmiento, R, De Unamuno, P

“…X‐linked ichthyosis is a genetic disorder of keratinization characterized by a generalized desquamation of large, adherent, dark brown scales. Extracutaneous…”
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A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers by Osorio, A., Martínez-Delgado, B., Pollán, M., Cuadros, M., Urioste, M., Torrenteras, C., Melchor, L., Díez, O., De La Hoya, M., Velasco, E., González-Sarmiento, R., Caldés, T., Alonso, C., Benítez, J.

“…Germline mutations in the BRCA1 and BRCA2 genes confer a high lifetime risk of developing breast and other cancers; however, remarkable differences exist…”
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Systematic review with meta‐analysis: the I148M variant of patatin‐like phospholipase domain‐containing 3 gene (PNPLA3) is significantly associated with alcoholic liver cirrhosis by Chamorro, A.‐J., Torres, J.‐L., Mirón‐Canelo, J.‐A., González‐Sarmiento, R., Laso, F.‐J., Marcos, M.

“…Summary Background Several studies have reported an association between alcoholic liver cirrhosis (ALC) or other forms of alcoholic liver disease (ALD) and the…”
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Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development by Bueno-Martínez, E, Lara-Almunia, M, Rodríguez-Arias, C, Otero-Rodríguez, A, Garfias-Arjona, S, González-Sarmiento, R

“…Glioblastoma is the most aggressive and common malignant primary brain tumor in adults. Many genetic, epigenetic and genomic mutations have been identified in…”
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Comment on: Clinicopathological features and oncological outcomes of patients with young‐onset rectal cancer by Perea, J., García, J. L., García‐Olmo, D., Urioste, M., González‐Sarmiento, R.

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A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia by Cañueto, J, Zafra-Cobo, M I, Ciria, S, Unamuno, P, González-Sarmiento, R

“…X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormal development of the hair, teeth, and sweat glands. It is caused by mutations in…”
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Molecular evidence of type 2 mosaicism in Gorlin syndrome by Torrelo, A., Hernández‐Martín, A., Bueno, E., Colmenero, I., Rivera, I., Requena, L., Happle, R., González‐Sarmiento, R.

“…Summary We present a 12‐year‐old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since…”
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Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin by López‐Balboa, P., Martos‐Cabrera, L., Ramírez‐Lluch, M., Noguera‐Morel, L., Ortiz‐Cabrera, N. V., González‐Sarmiento, R., Torrelo, A., Hernández‐Martín, Á.

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Early‐onset acral basal cell carcinomas in Gorlin syndrome by Torrelo, A., Vicente, A., Navarro, L., Planaguma, M., Bueno, E., González‐Sarmiento, R., Hernández‐Martín, A., Noguera‐Morel, L., Requena, L., Colmenero, I., Parareda, A., González‐Enseñat, M.A., Happle, R.

“…Summary Two patients are reported in whom early‐onset, distal papules with a histopathological diagnosis of basal cell carcinoma were the first manifestation…”
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Linear unilateral hamartomatous basal cell naevus with glandular and follicular differentiation by Yébenes, M., Toll, A., Vélez, M., Barranco, C., Alonso-López, N. A., Gonzalez-Sarmiento, R., Bellosillo, B., Pujol, R. M.

“…Summary Mosaicisms are characterized by genetic or functional differences between ≥ 2 cell lines in one person, derived from a single zygote. Of the various…”
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Epidermal growth factor receptor (EGFR) pathway polymorphisms as predictive markers of cetuximab toxicity in locally advanced head and neck squamous cell carcinoma (HNSCC) in a Spanish population by Fernández-Mateos, J, Seijas-Tamayo, R, Mesía, R, Taberna, M, Pastor Borgoñón, M, Pérez-Ruiz, E, Adansa Klain, J.C, Vázquez Fernández, S, del Barco Morillo, E, Lozano, A, González Sarmiento, R, Cruz-Hernández, J.J

“…Highlights • EGFR overexpression is common in HNSCC, so a good target for therapeutic approaches. • An association of KRAS-LCS6 (rs61764370) polymorphism with…”
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