Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2017.73DOI Listing

Publication Analysis

Top Keywords

novel novo
4
novo mutation
4
mutation csnk2a1
4
csnk2a1 reinforcing
4
reinforcing link
4
link neurodevelopmental
4
neurodevelopmental abnormalities
4
abnormalities dysmorphic
4
dysmorphic features
4
novel
1

Similar Publications

Oogenesis involves a novel nuclear envelop remodeling mechanism in Schmidtea mediterranea.

Dev Biol

December 2024

Stowers Institute for Medical Research, Kansas City, Missouri 64110, USA; Howard Hughes Medical Institute, Stowers Institute for Medical Research, Kansas City, Missouri 64110, USA. Electronic address:

The cell nuclei of Ophisthokonts, the eukaryotic supergroup defined by fungi and metazoans, is remarkable in the constancy of their double-membraned structure in both somatic and germ cells. Such remarkable structural conservation underscores common and ancient evolutionary origins. Yet, the dynamics of disassembly and reassembly displayed by Ophisthokont nuclei vary extensively.

View Article and Find Full Text PDF

Background: There is still no reliable therapeutic targets and effective pharmacotherapy for metabolic dysfunction-associated steatotic liver disease (MASLD). RASD1 is short for Ras-related dexamethasone-induced 1, a pivotal factor in various metabolism processes of Human. However, the role of RASD1 remains poorly illustrated in MASLD.

View Article and Find Full Text PDF

We introduce , an antibody variable domain diffusion model based on a general protein backbone diffusion framework, which was extended to handle multiple chains. Assessing the designability and novelty of the structures generated with our model, we find that produces highly designable antibodies that can contain novel binding regions. The backbone dihedral angles of sampled structures show good agreement with a reference antibody distribution.

View Article and Find Full Text PDF

Exploring the Venom Gland Transcriptome of and : De Novo Assembly and Analysis of Novel Toxic Proteins.

Toxins (Basel)

November 2024

Facultad de Ciencias Exactas y Naturales, Pontificia Universidad Católica del Ecuador, Quito 170525, Ecuador.

Previous proteomic studies of viperid venom revealed that it is mainly composed of metalloproteinases (SVMPs), serine proteinases (SVSPs), phospholipase A2 (PLA2), and C-type lectins (CTLs). However, other proteins appear in minor amounts that affect prey and need to be identified. This study aimed to identify novel toxic proteins in the venom gland transcriptome of and , using data from NCBI.

View Article and Find Full Text PDF

-Related Neurodevelopmental Disorder and Multiple Haemangiomas: A Novel Phenotypic Trait?

Pediatr Rep

December 2024

Pediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.

Background: Houge-Janssens syndrome 1 is a condition with onset in early childhood caused by heterozygous pathogenic variants in the gene, which encodes a B56 regulatory subunit of the serine/threonine protein phosphatase 2A (PP2A). There is evidence that the PP2A-PPP2R5D complex is involved in regulating the phosphatidylinositol 3-kinase (PI3K)/AKT signalling pathway, which is crucial for several cellular processes, including the pathogenesis and progression of haemangiomas.

Case Presentation: We report the first -related neurodevelopmental disorder case from Sardinia, a child with transient hypoglycaemia, facial dysmorphisms, and multiple haemangiomas.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!