5 documents found, page 1 of 1
Naturally occurring genetic diseases caused by de novo variants in domestic ani...
Azevedo, L; Amaro, AP; Niza-Ribeiro, J; Lopes-Marques, MWith the advent of next-generation sequencing, an increasing number of cases of de novo variants in domestic animals have been reported in scientific literature primarily associated with clinically severe phenotypes. The emergence of new variants at each generation is a crucial aspect in understanding the pathology of early-onset diseases in animals and can provide valuable insights into similar diseases in hum...
SLC35A2-CDG: Novel variant and review
Quelhas, D; Correia, J; Jaeken, J; Azevedo, L; Lopes-Marques, M; Bandeira, A; Keldermans, L; Matthijs, G; Sturiale, L; Martins, ESLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven ...
Genetic variability of the functional domains of chromodomains helicase DNA-bin...
Cardoso, AR; Lopes-Marques, M; Oliveira, M; Amorim, A; Prata, MJ; Azevedo, LIn the past few years, there has been an increasing neuroscientific interest in understanding the function of mammalian chromodomains helicase DNA-binding (CHD) proteins due to their association with severe developmental syndromes. Mammalian CHDs include nine members (CHD1 to CHD9), grouped into subfamilies according to the presence of specific functional domains, generally highly conserved in evolutionary term...
GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss du...
Lopes-Marques, M; Serrano, C; Cardoso, AR; Salazar, R; Seixas, S; Amorim, A; Azevedo, L; Prata, MJThe gene encoding the cytosolic ß-glucosidase GBA3 shows pseudogenization due to a truncated allele (rs358231) that is polymorphic in humans. Since this enzyme is involved in the transformation of many plant ß-glycosides, this particular case of gene loss may have been influenced by dietary adaptations during evolution. In humans, apart from the inactivating allele, we found that GBA3 accumulated additional dam...
Essential genetic findings in neurodevelopmental disorders
Cardoso, AR; Lopes-Marques, M; Silva, RM; Serrano, C; Amorim, A; Prata, MJ; Azevedo, LNeurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture that embraces genetic mutations of distinct types (chromosomal rearrangements, copy number variants, small indels, and nucleotide substitutions) with distinct frequencies in the population (common, rare, d...