Search Results - "Escamez, M J"

Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer‐prone genodermatoses by Chacón‐Solano, E., León, C., Díaz, F., García‐García, F., García, M., Escámez, M.J., Guerrero‐Aspizua, S., Conti, C.J., Mencía, Á., Martínez‐Santamaría, L., Llames, S., Pévida, M., Carbonell‐Caballero, J., Puig‐Butillé, J.A., Maseda, R., Puig, S., de Lucas, R., Baselga, E., Larcher, F., Dopazo, J., Río, M.

“…Summary Background Recessive dystrophic epidermolysis bullosa (RDEB), Kindler syndrome (KS) and xeroderma pigmentosum complementation group C (XPC) are three…”
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The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation by Escámez, M.J., García, M., Cuadrado-Corrales, N., Llames, S.G., Charlesworth, A., De Luca, N., Illera, N., Sánchez-Jimeno, C., Holguín, A., Duarte, B., Trujillo-Tiebas, M.J., Vicario, J.L., Santiago, J.L., Hernández-Martín, A., Torrelo, A., Castiglia, D., Ayuso, C., Larcher, F., Jorcano, J.L., Meana, A., Meneguzzi, G., Zambruno, G., Del Rio, M.

“…Summary Background  Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in COL7A1. The clinical manifestations are highly variable…”
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Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex by García, M., Santiago, J.L., Terrón, A., Hernández-Martín, A., Vicente, A., Fortuny, C., De Lucas, R., López, J.C., Cuadrado-Corrales, N., Holguín, A., Illera, N., Duarte, B., Sánchez-Jimeno, C., Llames, S., García, E., Ayuso, C., Martínez-Santamaría, L., Castiglia, D., De Luca, N., Torrelo, A., Mechan, D., Baty, D., Zambruno, G., Escámez, M.J., Del Río, M.

“…Summary Background  Basal epidermolysis bullosa simplex (EBS) is a group of blistering genodermatoses mostly caused by mutations in the keratin genes, KRT5 and…”
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Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa by Has, C., Liu, L., Bolling, M.C., Charlesworth, A.V., El Hachem, M., Escámez, M.J., Fuentes, I., Büchel, S., Hiremagalore, R., Pohla‐Gubo, G., Akker, P.C., Wertheim‐Tysarowska, K., Zambruno, G.

“…Linked Comment: Uitto. Br J Dermatol 2020; 182:526–527. Plain language summary available online…”
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A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa by Cuadrado-Corrales, N, Sánchez-Jimeno, C, García, M, Ayuso, C, De Lucas, R, Vicario, J L, Conti, C J, Zambruno, G, Escamez, M J, Del Rio, M

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Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-β antagonist and inhibitor of fibrosis by Chacón-Solano, E., León, C., Carretero, M., García, M., Sánchez-Domínguez, R., Quero, F., Méndez-Jiménez, E., Bonafont, J., Ruiz-Mezcua, B., Escámez, M.J., Larcher, F., del Río, M.

“…•Severe fibrotic features in recessive dystrophic epidermolysis bullosa (RDEB) are favored by a pro-oxidant status and hyper-responsiveness to TGF-β of dermal…”
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Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group by Sánchez-Jimeno, C, Escámez, M J, Ayuso, C, Trujillo-Tiebas, M J, Del Río, M

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Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years’ experience of a reference centre in Spain by Castelo, B., Viñal, D., Maseda, R., Ostios, L., Sánchez, D., García-Salvatierra, B., Escámez, M. J., Martínez-Santamaría, L., Del Río, M., Mora-Rillo, M., Vilches, Y., Beato, M. J., López Gutiérrez, J. C., Romero, N., Santos, C., Miranda, J., de Lucas, R.

“…Background Cutaneous squamous cell carcinoma (cSCC) is the leading cause of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). We…”
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Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population by Sanchez-Jimeno, C., Cuadrado-Corrales, N., Aller, E., García, M., Escámez, M.J., Illera, N., Trujillo-Tiebas, M.J., Ayuso, C., Millán, J.M., Del Río, M.

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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica by Cuadrado-Corrales, Natividad, Garcia, M, Escamez, M J, Carrillo, A, Trujillo-Tiebas, M J, Ayuso, C, Del Rio, M

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Prevalence of dystrophic epidermolysis bullosa in Spain: a population-based study using the 3-source capture-recapture method. Evidence of a need for improvement in care by Hernandez-Martín, A, Aranegui, B, Escámez, M J, de Lucas, R, Vicente, A, Rodríguez-Díaz, E, Bernabeu-Wittel, J, Gonzalez-Hermosa, R, García-Patos, V, Ginarte, M, Mascaró, Jr, J M, Corredera, C, Baselga, E, Santiago, J L, Chaves, A, Román, C, Evole, M, Martin-Santiago, A, Torrelo, A, Del Río, M, Feito, M, Gonzalez-Enseñat, M A, Romero, G, Morcillo-Makow, E, Abaitua, I, García-Doval, I

“…Dystrophic epidermolysis bullosa (DEB) is a rare disease that represents a heavy burden for both the patient and the health care system. There are currently no…”
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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica by García, Marta, Escamez, M J, Cuadrado-Corrales, N, Illera, N, Sánchez Jimeno, C, Vélez, C, Trujillo-Tiebas, M J, Ayuso, C, Del Río, M

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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica by García, Marta, Escamez, M J, Cuadrado-Corrales, N, Sánchez-Jimeno, C, Illera, N, López-Martínez, M A, Trujillo-Tiebas, M J, Ayuso, C, Del Río, M

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X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient by Hernández-Martín, A, Cuadrado-Corrales, N, Ciria-Abad, S, Arias-Palomo, D, Mascaró-Galy, J M, Escámez, M J, García, M, Del Río, M, Torrelo, A, González-Sarmiento, R

“…X-linked ichthyosis (XLI) is a relatively common keratinization disorder which is caused, in the vast majority of cases, by a total deletion of the sulfatase…”
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Epidermolysis Bullosa in Spain: Observational Study of a Cohort of Patients Treated in a National Referral Center by Maseda Pedrero, R, Quintana Castanedo, L, Pérez Conde, I, Jiménez González, M, Escámez Toledano, M J, de Lucas Laguna, R

“…BACKGROUND AND OBJECTIVEEpidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by a high degree of mucocutaneous fragility…”
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Type 3 iodothyronine deiodinase is selectively expressed in areas related to sexual differentiation in the newborn rat brain by Escámez, M J, Guadaño-Ferraz, A, Cuadrado, A, Bernal, J

“…Thyroid hormone (T4 and T3) concentrations in target tissues are greatly influenced by the activity of iodothyronine deiodinases. Type 1 and 2 deiodinases…”
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Skin gene therapy for acquired and inherited disorders by Carretero, M, Escámez, M J, Prada, F, Mirones, I, García, M, Holguín, A, Duarte, B, Podhajcer, O, Jorcano, J L, Larcher, F, Del Río, M

“…The rapid advances associated with the Human Genome Project combined with the development of proteomics technology set the bases to face the challenge of human…”
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Expression of Type 2 Iodothyronine Deiodinase in Hypothyroid Rat Brain Indicates an Important Role of Thyroid Hormone in the Development of Specific Primary Sensory Systems by Guadano-Ferraz, Ana, Escamez, Maria Jose, Rausell, Estrella, Bernal, Juan

“…Thyroid hormone is an important epigenetic factor in brain development, acting by modulating rates of gene expression. The active form of thyroid hormone,…”
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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic by Cuadrado-Corrales, Natividad, García, M, Escámez, M J, Sánchez-Jimeno, C, Illera, N, López-Martínez, M A, Trujillo-Tieba, M J, Ayuso, C, Del Río, M

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Transcriptional induction of RC3/neurogranin by thyroid hormone: differential neuronal sensitivity is not correlated with thyroid hormone receptor distribution in the brain by Guadaño-Ferraz, Ana, José Escámez, Marı́a, Morte, Beatriz, Vargiu, Pierfrancesco, Bernal, Juan

“…RC3/neurogranin is a calmodulin-binding protein kinase C substrate, located in dendritic spines of forebrain neurons. It has been implicated in post-synaptic…”
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