Filtros de búsqueda

Lista de obras de

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response

artículo científico publicado en 2012

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort

artículo científico publicado en 2010

Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption

article published in 2011

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

artículo científico publicado en 2015

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

artículo científico publicado en 2012

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

artículo científico publicado en 2013

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

artículo científico publicado en 2011

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

artículo científico publicado en 2010

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

artículo científico publicado en 2015

Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability

scientific journal article

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

artículo científico publicado en 2009

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda