The L1CAM SAX-7 is an antagonistic modulator of Erk Signaling.

L1CAMs are immunoglobulin superfamily cell adhesion molecules that ensure proper nervous system development and function. In addition to being associated with the autism and schizophrenia spectrum disorders, mutations in the L1CAM family of genes also underlie distinct developmental syndromes with neurological conditions, such as intellectual disability, spastic paraplegia, hypotonia and congenital hydrocephalus. Studies in both vertebrate and invertebrate model organisms have established conserved neurodevelopmental roles for L1CAMs; these include axon guidance, dendrite morphogenesis, synaptogenesis, and maintenance of neural architecture, among others.

Evaluating the representational power of pre-trained DNA language models for regulatory genomics.

The emergence of genomic language models (gLMs) offers an unsupervised approach to learning a wide diversity of -regulatory patterns in the non-coding genome without requiring labels of functional activity generated by wet-lab experiments. Previous evaluations have shown that pre-trained gLMs can be leveraged to improve predictive performance across a broad range of regulatory genomics tasks, albeit using relatively simple benchmark datasets and baseline models. Since the gLMs in these studies were tested upon fine-tuning their weights for each downstream task, determining whether gLM representations embody a foundational understanding of -regulatory biology remains an open question.

Small hairpin inhibitory RNA delivery in the metanephric organ culture identifies long noncoding RNA as a modulator of cyst growth.

Autosomal dominant polycystic kidney disease (ADPKD) is a monogenic disorder characterized by the formation of kidney cysts that originate from the epithelial tubules of the nephron and primarily results from mutations in polycystin-1 () and polycystin-2 (). The metanephric organ culture (MOC) is an ex vivo system in which explanted embryonic kidneys undergo tubular differentiation and kidney development. MOC has been previously used to study polycystic kidney disease as treatment with 8-bromo-cAMP induces the formation of kidney cysts.

Low-flow vascular malformations of the hand and forearm: a multidisciplinary experience in a tertiary paediatric centre.

Background: Vascular malformations (VMs) involving the hand and forearm in children provide management challenges due to complex anatomy, indispensable functionality and developmental implications.

Methods: The institution's Vascular Registry was searched for patients with hand and arm VMs, supplemented by chart review of included patients.

Results: Twenty-one patients were identified, 52% male, with mean presenting age 5.

Re Facial aesthetic injections in clinical practice: Pretreatment and post-treatment consensus recommendations to minimise adverse outcome Region-specific changes in line with the Covid-19 pandemic.

Despite the recent publication in March 2020 of guidelines for facial injectable treatments, the speed of the COVID-19 pandemic and its safety implications necessitate changes to these guidelines The authors described what would constitute safest practice in the provision of facial injectable treatments and summarised these in table form. Adherence to a high standard of asepsis and infectious disease precautions remain a key patient safety requirement when performing facial aesthetic injections. A revision and update of these guideline summary tables follows.