Sunday, October 8, 2017

Vincent's story in Human Genetics textbook

In the twelfth edition of the Human Genetics textbook (McGraw Hill Education, written by Ricki Lewis ) Vincent's story  introduces Chapter 12 about gene mutations.

The new edition of the textbook for medical and genetics students all over the world just came out.

If you would like to see the text written about Vincent just let me know.

Friday, March 10, 2017

Tuesday, May 24, 2016

Some relevant papers on RPS23 and ribosomopathies

Hydroxylation of the eukaryotic ribosomal decoding center affects translational accuracy


OGFOD1 catalyzes prolyl hydroxylation of RPS23 and is involved in translation control and stress granule formation

Sudestada1, a Drosophila ribosomal prolyl-hydroxylase required for mRNA translation, cell homeostasis, and organ growth

Growing with the wind 

Ribosomal protein hydroxylation and cell growth

Ribosomopathies: how a common root can cause a tree of pathologies

Ribosomopathies and the paradox of cellular hypo- to hyperproliferation

Ribosomal Protein Mutations Induce Autophagy through S6 Kinase Inhibition of the Insulin Pathway

Mysterious Ribosomopathies

Ribosomopathies: Global process, tissue specific defects

The role of ribosomal proteins in the regulation of cell proliferation, tumorigenesis, and genomic integrity

Wednesday, March 16, 2016

First scientific publication released today on the RPS23 mutation.

Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy

In this study the physical properties of Vincent's hair are analyzed in comparison to the rest of our family.

More papers will follow.

Tuesday, March 1, 2016

Rare Disease Day 29th of February

Very nice article written by Ricki Lewis Ph.D. A geneticist, blogger and publisher of genetics textbooks and the author of the book "The Forever Fix" Gene therapy and the boy who saved it.

Vincent's Story: Discovery of a New Autism Spectrum Disorder