Human developmental disorders encompass a wide range of debilitating physical
conditions and intellectual disabilities. Perturbation of protein kinase signalling underlies the …

Congenital diaphragmatic hernia (CDH) is often detectable prenatally. Advances in genetic
testing have made it possible to obtain a molecular diagnosis in many fetuses with CDH …

Mammalian X and Y chromosomes independently evolved from various autosomes
approximately 300 million years ago (MYA). To fully understand the relationship between …

Protein ubiquitylation regulates key biological processes including transcription. This is
exemplified by the E3 ubiquitin ligase RNF12/RLIM, which controls developmental gene …

Ubiquitylation enzymes are involved in all aspects of eukaryotic biology and are frequently
disrupted in disease. One example is the E3 ubiquitin ligase RNF12/RLIM, which is mutated …

Introduction Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple
congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 …

Summary Tonne-Kalscheuer syndrome (TOKAS; MIM: 300978) is an X-linked recessive
disorder with devastating consequences for patients, such as intellectual disability …

The E3 ubiquitin ligase RNF12/RLIM controls developmental gene expression and is
mutated in the X-linked intellectual disability disorder Tonne-Kalscheuer syndrome …

SOX9 gene is a transcription factor that plays a key role in sex determination, chondrocyte
differentiation and skeletal development in embryonic development. Decreased SOX9 …