Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes [PDF]
, 2016 Norann A. Zaghloul +2 more
core +1 more source
ALMS1KO rat: a new model of metabolic syndrome with spontaneous hypertension
AbstractALMS1 is a protein initially associated with Alström syndrome. This is a rare human disorder characterized by metabolic dysfunction, hypertension, obesity and hyperinsulinemia. In addition,ALMS1gene was linked to hypertension status in a multipoint linkage population analysis.
Jaykumar, Ankita B. +4 more
openaire +2 more sources
The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. [PDF]
, 2011 Foini P +7 more
core +1 more source
SEX-SPECIFIC EFFECTS AND GENE-SEX INTERACTIONS IN SERUM METABOLOME LEVELS: THE ATHEROSCLEROSIS RISK IN COMMUNITIES STUDY [PDF]
, 2018 Metabolomic signatures associated with complex disease have been identified. Metabolomic profiling and the integration of genomic data have proven to be powerful tools to investigate genetic effects underlying intermediate phenotype levels and may ...
Wang, Zhe
core +1 more source
Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis. [PDF]
J Med Genet, 2023 Bea-Mascato B, Valverde D.
europepmc +1 more source
Drosophila Alms1 proteins regulate centriolar cartwheel assembly by enabling Plk4-Ana2 amplification loop. [PDF]
EMBO JBrunet M +8 more
europepmc +1 more source
Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome [PDF]
, 2022 Benedetto, Chiara +4 more
core +1 more source
Partial response to lorlatinib in thoracic inflammatory myofibroblastic tumor harboring complex and rare ALK fusions: a case report. [PDF]
Transl Lung Cancer ResTang LB +13 more
europepmc +1 more source