7 documents found, page 1 of 1
Croma: vol.8, nº15 (Jan./Jun. 2020)
Queiroz, João Paulo; Lopes, Almerinda; Camargo, Carlos; Zanatta, Cláudia; Braga, Márcia; Vaccarello, Dennise; Silveira, Isabel; caseirao, armandoReuniram-se na Revista CROMA 15, sob o tema maior dos artistas abordando a obra de seus companheiros de profissão, e dentro destes, aqueles com maior intervenção junto das comunidades visando a sua mudança. São 16 artigos que têm em comum a perspetiva sobre um artista interventivo, inquirindo sobre qual a ligação mais forte, e mais fraca, com as ilhas e os continentes locais em necessária descolonização sem abd...
Fragile X mental retardation 1 (FMR1) premutations: instability and associated ...
Loureiro, Joana; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, IsabelFragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. FXS is caused by a (CGG)n expansion of over 200 repeats, in the 5’UTR of the FMR1 gene, which as a result is usually methylated and the gene silenced. Based on CGG repeat length, four classes of alleles can be distinguished: normal (5-44), intermediate (45-54), p...
Fragile X mental retardation 1 (FMR1) premutations: instability and associated ...
Loureiro, Joana; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, IsabelFragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. FXS is caused by a (CGG)n expansion of over 200 repeats, in the 5’UTR of the FMR1 gene, which as a result is usually methylated and the gene silenced. Based on CGG repeat length, four classes of alleles can be distinguished: normal (5-44), intermediate (45-54), p...
Fragile X syndrome: intergenerational allele instability and associated phenoty...
Joana, Loureiro; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, IsabelFragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. This disease is caused by a (CGG)n expansion in the 5’UTR of the FMR1 gene, which as a result is methylated and gene silenced. Four classes of alleles can be found based on CGG repeat length: normal (5-44), intermediate (45-54), premutation (55-200) and full muta...
FMR1 premutations may be associated with a wider spectrum of phenotypes
Seixas, Ana; Vale, José; Martins, Márcia; Loureiro, Joana; Jorge, Paula; Maques, Isabel; Santos, Rosário; Coutinho, Paula; Margolis, RussellThe fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5’UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutati...
Seixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; Pinto-Basto, Jorge; Coutinho, PaulaThe fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...
Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage...
Alonso, Isabel; Marques, Joana M.; Sousa, Nuno; Sequeiros, Jorge; Olsson, I. Anna S.; Silveira, IsabelThe leaner mutation in mice affects the Ca(v)2.1 voltage-gated calcium channel alpha(1A)-subunit gene (Cacna1a), causing a reduction in calcium currents predominantly in Purkinje cells. This reduction in calcium currents causes severe progressive cerebellar ataxia, beginning around postnatal day 10, in homozygous leaner mice (tg(la)/tg(la)), while their heterozygous littermates (tg(la)/+) present no obvious beh...