Cargando…
tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans
We describe a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability in a large consanguineous family with three affected children. Linkage analysis and whole exome sequencing were used to identify the causal nonsense mutation, which changed an arginine cod...
Autores principales: | Igoillo-Esteve, Mariana, Genin, Anne, Lambert, Nelle, Désir, Julie, Pirson, Isabelle, Abdulkarim, Baroj, Simonis, Nicolas, Drielsma, Anais, Marselli, Lorella, Marchetti, Piero, Vanderhaeghen, Pierre, Eizirik, Décio L., Wuyts, Wim, Julier, Cécile, Chakera, Ali J., Ellard, Sian, Hattersley, Andrew T., Abramowicz, Marc, Cnop, Miriam |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814312/ https://www.ncbi.nlm.nih.gov/pubmed/24204302 http://dx.doi.org/10.1371/journal.pgen.1003888 |
Ejemplares similares
-
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly
por: Abdulkarim, Baroj, et al.
Publicado: (2015) -
Pancreatic β-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes
por: Cosentino, Cristina, et al.
Publicado: (2018) -
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
por: De Franco, Elisa, et al.
Publicado: (2020) -
Combined transcriptome and proteome profiling of the pancreatic β-cell response to palmitate unveils key pathways of β-cell lipotoxicity
por: Lytrivi, Maria, et al.
Publicado: (2020) -
A functional genomic approach to identify reference genes for human pancreatic beta cell real-time quantitative RT-PCR analysis
por: Alvelos, Maria Inês, et al.
Publicado: (2021)