Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198146PMC
http://dx.doi.org/10.1038/ejhg.2011.83DOI Listing

Publication Analysis

Top Keywords

causality novo
4
novo copy
4
copy number
4
number variants
4
variants overestimated
4
causality
1
copy
1
number
1
variants
1
overestimated
1

Similar Publications

Complete genome sequence of Pseudarthrobacter sp. NIBRBAC000502770 from coal mine of Hongcheon on Republic of Korea.

BMC Genom Data

January 2025

Department of Applied Biosciences, College of Agriculture and Life Sciences, Kyungpook National University, Daegu, 41566, Republic of Korea.

Objectives: The data were collected to obtain the complete genome sequence of Pseudarthrobacter sp. NIBRBAC000502770, isolated from the rhizosphere of Sasamorpha in a heavy metal-contaminated coal mine in Hongcheon, Republic of Korea. The objective was to explore the strain's genetic potential for plant growth promotion and heavy metal resistance, particularly arsenate and copper.

View Article and Find Full Text PDF

Objective: Managing blood glucose levels is challenging for elite athletes with type 1 diabetes (T1D) as competition can cause unpredictable fluctuations. While fear of hypoglycemia during physical activity is well documented, research on hyperglycemia-related anxiety (HRA) is limited. HRA refers to the heightened fear that hyperglycemia-related symptoms will impair functioning.

View Article and Find Full Text PDF

Nutrient deprivation is a major trigger of autophagy, a conserved quality control and recycling process essential for cellular and tissue homeostasis. In a high-content image-based screen of the human ubiquitome, we here identify the E3 ligase Pellino 3 (PELI3) as a crucial regulator of starvation-induced autophagy. Mechanistically, PELI3 localizes to autophagic membranes, where it interacts with the ATG8 proteins through an LC3-interacting region (LIR).

View Article and Find Full Text PDF

Control of striatal circuit development by the chromatin regulator .

Sci Adv

January 2025

Department of Neuroscience, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

The pathophysiology of neurodevelopmental disorders involves vulnerable neural populations, including striatal circuitry, and convergent molecular nodes, including chromatin regulation and synapse function. Despite this, how epigenetic regulation regulates striatal development is understudied. Recurrent de novo mutations in are associated with intellectual disability and autism.

View Article and Find Full Text PDF

X-linked severe combined immunodeficiency disease (X-SCID) is a form of inborn errors of immunity (IEI) associated with causal DNA variants of the gene. Patients with X-SCID are characterized by a combination of cellular and humoral immunodeficiencies associated with increased susceptibility to infections. The presented cases constituted two unrelated male patients from the Slovak population.

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!