@drelisadefranco.bsky.social
Reposted
Microcephaly, epilepsy & diabetes syndrome (MEDS) is a rare disease
@evirgilio.bsky.social et al. now identify biallelic variants in the TMEM167A gene as a third cause of #MEDS & show TMEM167A is involved in protein trafficking in pancreatic beta-cells: www.jci.org/articles/vie...
@evirgilio.bsky.social et al. now identify biallelic variants in the TMEM167A gene as a third cause of #MEDS & show TMEM167A is involved in protein trafficking in pancreatic beta-cells: www.jci.org/articles/vie...
November 18, 2025 at 5:15 PM
Microcephaly, epilepsy & diabetes syndrome (MEDS) is a rare disease
@evirgilio.bsky.social et al. now identify biallelic variants in the TMEM167A gene as a third cause of #MEDS & show TMEM167A is involved in protein trafficking in pancreatic beta-cells: www.jci.org/articles/vie...
@evirgilio.bsky.social et al. now identify biallelic variants in the TMEM167A gene as a third cause of #MEDS & show TMEM167A is involved in protein trafficking in pancreatic beta-cells: www.jci.org/articles/vie...
Reposted
Global perspectives on #MonogenicDiabetes: review explores recent advances, global diagnostic challenges and promising future directions—from genomic equity to innovative therapies. #GlobalHealth link.springer.com/article/10.1... 🔓
Global perspectives on monogenic forms of diabetes - Diabetologia
Monogenic forms of diabetes represent an uncommon but very heterogeneous subset of the disease, with variable associated clinical features and key differences in treatment options. In this review, we ...
link.springer.com
July 22, 2025 at 5:35 PM
Global perspectives on #MonogenicDiabetes: review explores recent advances, global diagnostic challenges and promising future directions—from genomic equity to innovative therapies. #GlobalHealth link.springer.com/article/10.1... 🔓
Reposted
I’m excited to share the 2 newest Neonatal diabetes genes: RNU4ATAC and RNU6ATAC. These genes encode snRNA components of the minor spliceosome and biallelic variants in them cause monogenic autoimmune diabetes. If you are at #EASD, come to Matt Johnson’s talk Tuesday @4pm in Milan hall to hear more.
The minor spliceosome is a master immune regulator
Pathogenic variants in non-coding genes are emerging as critical contributors to human rare diseases. We identified 19 individuals with early-onset diabetes (diagnosed <5 years) and additional clinica...
www.medrxiv.org
September 15, 2025 at 8:28 AM
I’m excited to share the 2 newest Neonatal diabetes genes: RNU4ATAC and RNU6ATAC. These genes encode snRNA components of the minor spliceosome and biallelic variants in them cause monogenic autoimmune diabetes. If you are at #EASD, come to Matt Johnson’s talk Tuesday @4pm in Milan hall to hear more.
Reposted
Really proud of this Exeter–Stanford collaboration identifying bi-allelic variants in PAX4 as a novel cause of transient neonatal diabetes—the first new genetic cause of this subtype described in over a decade. This work expands our understanding of beta cell development.
🔗 doi.org/10.1016/j.mo...
🔗 doi.org/10.1016/j.mo...
Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans
Gene discovery studies in individuals with diabetes diagnosed within 6 months of life (neonatal diabetes, NDM) can provide unique insights into the de…
www.sciencedirect.com
July 3, 2025 at 2:23 PM
Really proud of this Exeter–Stanford collaboration identifying bi-allelic variants in PAX4 as a novel cause of transient neonatal diabetes—the first new genetic cause of this subtype described in over a decade. This work expands our understanding of beta cell development.
🔗 doi.org/10.1016/j.mo...
🔗 doi.org/10.1016/j.mo...
Reposted
Homozygous loss-of-function variants in PAX4 are a novel genetic cause of transient neonatal #diabetes www.sciencedirect.com/science/arti...
July 3, 2025 at 12:22 AM
Homozygous loss-of-function variants in PAX4 are a novel genetic cause of transient neonatal #diabetes www.sciencedirect.com/science/arti...