LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

Which Tyrosine Kinase Inhibitor Must We Apply Before? A Case Report of Crizotinib-resistant Patient with Concomitant EGFR and EML4-ALK Gene Mutations

Cokmert, S; Veral, A; Akyurek, N; Kececi, SD; Sivrikoz, O; Yilmaz, E; Tanriverdi, O; Coskun, U.

West Indian med. j; 69 (3), 2021

ABSTRACT The concomitant epidermal growth factor receptor (EGFR) mutation and anaplastic lymphoma kinase (ALK) translocations in lung adenocancers are very rare scenarios. Until now, 42 cases described in the literature have all been treated by different drugs. There is no overall consensus regarding the...

Adenocarcinoma/genética, Neoplasias Pulmonares/genética, Mutación/genética, Genes erbB-1/genética, Exones/genética, Crizotinib/uso terapéutico, Inhibidores de Proteínas Quinasas/uso terapéutico, Docetaxel/uso terapéutico, Cisplatino/uso terapéutico, Antineoplásicos/uso terapéutico, Neoplasias Pulmonares/tratamiento farmacológico, Adenocarcinoma/tratamiento farmacológico

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Association of the polymorphism Exon 1 (A/O) region of the mannose-binding lectin gene and periportal fibrosis regression in schistosomiasis after specific treatment

Oliveira, Saulo Gomes de; Souza, Ilana Brito Ferraz de; Constantino, Taynan da Silva; Silva, Paula Carolina Valença; Lima, Elker Lene Santos de; Muniz, Maria Tereza Cartaxo; Domingues, Ana Lúcia Coutinho.

Rev. Soc. Bras. Med. Trop; 54 (), 2021

Abstract INTRODUCTION: We evaluated the association between genetic polymorphisms in exon 1 (A/O alleles) and promoter regions at positions -550 (H/L variant, rs11003125) and -221 (X/Y variant, rs7096206) MBL2 and periportal fibrosis regression. METHODS: This was a retrospective cohort study involvin...

Brasil, Exones/genética, Predisposición Genética a la Enfermedad, Genotipo, Cirrosis Hepática/genética, Lectina de Unión a Manosa/genética, Polimorfismo Genético, Polimorfismo de Nucleótido Simple, Estudios Retrospectivos, Esquistosomiasis/genética

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Complete screening of exons 2, 3, and 4 of kras and nras genes reveals a higher number of clinically relevant mutations than food and drug administration quantitative polymerase chain reaction-based commercial kits

Sánchez-Ibarra, Héctor E.; Reyes-Cortes, Luisa M.; López-Tavera, Esteban; Luna-Aguirre, Claudia M.; Barrera-Saldaña, Hugo A..

Rev. invest. clín; 72 (6), 2020

Abstract Background: The presence of clinically relevant mutations in KRAS and NRAS genes determines the response of anti-epidermal growth factor receptor antibody therapy for metastatic colorectal cancer (mCRC). The only quantitative polymerase chain reaction (qPCR)-based diagnostic tests approved by t...

Comercio, Exones/genética, GTP Fosfohidrolasas/genética, Proteínas de la Membrana/genética, Mutación, Reacción en Cadena de la Polimerasa, Proteínas Proto-Oncogénicas p21(ras)/genética, Juego de Reactivos para Diagnóstico, Estados Unidos, United States Food and Drug Administration

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No detection of c-kit gene mutations in exons 9, 11, 13 and 17 and low CD117 expression in plaque-stage mycosis fungoides

Luca, David Aldo De; Enz, Paula Andrea; Galimberti, Ricardo Luis; Rinflerch, Adriana Raquel.

An. bras. dermatol; 93 (6), 2018

Abstract: The growth factor receptor c-kit (CD117) is expressed in immature T-cells and in some advanced forms of mycosis fungoides. c-kit gene mutation results in unrestricted neoplastic proliferation. We aimed to detect by PCR the most frequent exon mutations in seventeen plaque-stage MF patients, in t...

Estudios de Casos y Controles, Exones/genética, Expresión Génica, Inmunohistoquímica, Mutación/genética, Micosis Fungoide/genética, Reacción en Cadena de la Polimerasa, Estudios Prospectivos, Proteínas Proto-Oncogénicas c-kit/genética

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How polymorphic markers contribute to genetic diseases in different populations? The study of inhibin A for premature ovarian insufficiency

Christofolini, Denise Maria; Cordts, Emerson Barchi; Santos-Pinheiro, Fernando; Kayaki, Erika Azuma; Dornas, Mayla Cristina Fernandes; Santos, Monise de Castro; Bianco, Bianca; Barbosa, Caio Parente.

Einstein (Säo Paulo); 15 (3), 2017

ABSTRACT Objective To verify the incidence of the G679A mutation in exon 2 of the gene inhibin alpha (INHA), in women with secondary amenorrhea and diagnosis of premature ovarian insufficiency, and in controls. Methods A 5mL sample of peripheral blood was collected from all study participants in an E...

Estudios de Casos y Controles, Exones/genética, Marcadores Genéticos/genética, Inhibinas/economía, Mutación/genética, Reacción en Cadena de la Polimerasa, Polimorfismo Genético/genética, Polimorfismo de Longitud del Fragmento de Restricción, Insuficiencia Ovárica Primaria/genética

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