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Evolutionary Constraints in the b-Globin Cluster: The Signature of Purifying Se...
Moleirinho, A; Seixas, A; Lopes, AM; Bento, C; Prata, MJ; Amorim, AHuman hemoglobins, the oxygen carriers in the blood, are composed by two α-like and two β-like globin monomers. The β-globin gene cluster located at 11p15.5 comprises one pseudogene and five genes whose expression undergoes two critical switches: the embryonic-to-fetal and fetal-to-adult transition. HBD encodes the δ-globin chain of the minor adult hemoglobin (HbA2), which is assumed to be physiologically irrel...
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14
Alonso, I; Costa, C; Gomes, A; Ferro, A; Seixas, A; Silva, S; Cruz, V; Coutinho, P; Sequeiros, J; Silveira, ISpinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder, first described in a Japanese family, showing linkage to chromosome 19q13.4-qter. Recently, mutations have been identified in the PRKCG gene in families with SCA14. The PRKCG gene encodes the protein kinase Cgamma (PKCgamma), a member of a serine/threonine kinase family involved in signal transduction important for sever...
Carcinoma adenoescamoso primário do estômago
Manna,E.D.F.; Seixas,A.A.; Machado de Araújo,R.P.; Ferro,M.C.O carcinoma adenoescamoso primário do estômago é um tumor raro, cuja incidência não excede 1% dos tumores gástricos. Esse tumor mostra dois tipos celulares distintos: um escamoso e outro adenocarcinomatoso. MATERIAL E MÉTODO: Os autores reportam um caso de carcinoma adenoescamoso primário do estômago em um paciente branco de 55 anos, cuja patologia e imuno-histoquímica mostram a presença dos dois tipos celulare...
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