Bioquímica, xenética e inmunoloxía
Fachbereich
Brais
Bea Mascato
Publikationen, an denen er mitarbeitet Brais Bea Mascato (7)
2023
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Deciphering the molecular basis of alström syndrome: genotype-phenotype correlations and a multi-omics approach to tgf-β pathway regulation
Deciphering the molecular basis of alström syndrome: genotype-phenotype correlations and a multi-omics approach to tgf-β pathway regulation
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Genotype-phenotype associations in Alström syndrome: A systematic review and meta-analysis
Journal of Medical Genetics, Vol. 61, Núm. 1, pp. 18-26
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Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes
Biology Direct, Vol. 18, Núm. 1
2022
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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
npj Genomic Medicine, Vol. 7, Núm. 1
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Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity
Frontiers in Molecular Biosciences, Vol. 9
2021
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ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia
Frontiers in Cell and Developmental Biology, Vol. 9
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Prevalent alms1 pathogenic variants in spanish alström patients
Genes, Vol. 12, Núm. 2, pp. 1-12