Results 61 to 70 of about 9,740,536 (302)

Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. [PDF]

open access: yesPLoS ONE, 2016
Copy number variants (CNVs) were detected and analyzed in 14 probands with autism and intellectual disability with self-injurious behavior (SIB) resulting in tissue damage.
Matthew D Shirley   +8 more
doaj   +1 more source

Reconstructing enzyme evolution by protein engineering

open access: yesFEBS Letters, EarlyView.
Natural enzyme evolution can be retraced by protein engineering methods such as directed evolution, rational design, and ancestral sequence reconstruction. These approaches reveal how enzymes emerged from ligand‐binding scaffolds, developed varying substrate preferences, formed oligomeric complexes, adapted to environmental changes, and evolved novel ...
Lukas Drexler   +2 more
wiley   +1 more source

The role of genomic Copy Number Variation (CNV) in osteoporosis [PDF]

open access: yes, 2012
Copy number variation (CNV) is a relatively novel source of genetic variation, involving the duplication or deletion of segments of genomic DNA (gDNA) sequence, thereby changing the original number of DNA copies.
Connolly, Kate
core  

A genome-wide scan for common alleles affecting risk for autism [PDF]

open access: yes, 2010
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs).
J. Miller   +999 more
core   +2 more sources

CNValidatron: accurate and efficient validation of PennCNV calls using computer vision

open access: yesBMC Bioinformatics
Background Large, rare copy number variants (CNVs) are a main source of genetic variation in the genome and are important in both evolution and disease risk.
Simone Montalbano   +7 more
doaj   +1 more source

Investigating transcription factor dynamics in health and disease using FRAP

open access: yesFEBS Letters, EarlyView.
FRAP analysis of GFP‐tagged transcription factors reveals how molecular mobility and target engagement change in response to drug treatment. By combining live‐cell imaging, quantitative model fitting, and statistical analysis, this approach uncovers transcription factor dynamics linked to disease mechanisms, providing a powerful framework for ...
Kannan Govindaraj   +3 more
wiley   +1 more source

Functional consequences of copy number variants in miscarriage [PDF]

open access: yesMolecular Cytogenetics, 2015
Background: The presence of unique copy number variations (CNVs) in miscarriages suggests that their integral genes have a role in maintaining early pregnancy. In our previous work, we identified 19 unique CNVs in ~40% of studied euploid miscarriages, which were predominantly familial in origin.
Wen, Jiadi   +7 more
openaire   +3 more sources

Conserved binding mode but diverse interfaces of MreC‐PBP2 interactions

open access: yesFEBS Letters, EarlyView.
The crystal structure of abMreC reveals a conserved two β‐barrel architecture and provides structural insights into its role within the bacterial elongasome. The abMreC–abPBP2 complex model identifies the molecular basis of MreC‐mediated PBP2 recognition, contributing to the regulation of peptidoglycan synthesis.
Hyunseok Jang   +4 more
wiley   +1 more source

Copy number variants.

open access: yes, 2019
Copy number variants.
Melissa Stanton (3493625)   +7 more
core   +1 more source

CGHpower: exploring sample size calculations for chromosomal copy number experiments [PDF]

open access: yes, 2010
Background Determining a suitable sample size is an important step in the planning of microarray experiments. Increasing the number of arrays gives more statistical power, but adds to the total cost of the experiment.
Scheinin, A.I.   +24 more
core   +3 more sources

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