Results 91 to 100 of about 129,534 (273)

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Estimating the Breakpoints for EUCAST Fast Antimicrobial Susceptibility Testing Using Flagged BacT/Alert Blood Culture Bottles

Online Journal of Health & Allied Sciences
Introduction: The escalating prevalence of multidrug resistance is a global threat to human health particularly in critically ill patients with bloodstream infections (BSIs).
Seema Gangar, Kirti Nirmal, Avinash Kant Lakra, Kalyani Swain, Shukla Das   +4 more
doaj  

New ecological change indicators using breakpoints in vegetation trends applied to a dryland pastoral catchment in the Moroccan high atlas

Environmental and Sustainability Indicators
This study aims to improve ecological change quantification from remote sensing-based methods by incorporating the sign of breakpoints in vegetation productivity trends and proposing a new breakpoint typology.
Angelique Vermeer, Saskia Foerster, Ángeles G. Mayor   +2 more
doaj   +1 more source

Recurrence of Chromosome Rearrangements and Reuse of DNA Breakpoints in the Evolution of the Triticeae Genomes

G3: Genes, Genomes, Genetics, 2016
Chromosomal rearrangements (CRs) play important roles in karyotype diversity and speciation. While many CR breakpoints have been characterized at the sequence level in yeast, insects, and primates, little is known about the structure of evolutionary CR ...
Wanlong Li, Ghana S. Challa, Huilan Zhu, Wenjie Wei   +3 more
doaj   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Gene alterations at Drosophila inversion breakpoints provide prima facie evidence for natural selection as an explanation for rapid chromosomal evolution

BMC Genomics, 2012
Background Chromosomal inversions have been pervasive during the evolution of the genus Drosophila, but there is significant variation between lineages in the rate of rearrangement fixation. D.
Guillén Yolanda, Ruiz Alfredo
doaj   +1 more source

Resistance Candida spp. for amphotericin B in cancer patients

Журнал инфектологии, 2016
We have tested 253 strains (13 species) Candida spp. Determination of the minimum inhibitory concentration of amphotericin B was performed by 2 methods: epsilometric method (Etest®, BioMerieux, France) and on the instrument the Vitek2 (BioMerieux, France)
N. S. Bagirova, N. V. Dmitrieva
doaj  

Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep

Animal Research and One Health, EarlyView.
Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang, Wei Dai, Jiqiang Liu, Zhengguang Wang   +3 more
wiley   +1 more source

Analysis of fine-scale mammalian evolutionary breakpoints provides new insight into their relation to genome organisation

BMC Genomics, 2009
Background The Intergenic Breakage Model, which is the current model of structural genome evolution, considers that evolutionary rearrangement breakages happen with a uniform propensity along the genome but are selected against in genes, their regulatory
Zaghloul Lamia, Lemaitre Claire, Sagot Marie-France, Gautier Christian, Arneodo Alain, Tannier Eric, Audit Benjamin   +6 more
doaj   +1 more source

Prioritizing Feasible and Impactful Actions to Enable Secure AI Development and Use in Biology

Biotechnology and Bioengineering, EarlyView.
ABSTRACT As artificial intelligence continues to enhance biological innovation, the potential for misuse must be addressed to fully unlock the potential societal benefits. While significant work has been done to evaluate general‐purpose AI and specialized biological design tools (BDTs) for biothreat creation risks, actionable steps to mitigate the risk
Josh Dettman, Emily Lathrop, Aurelia Attal‐Juncqua, Matthew Nicotra, Allison Berke   +4 more
wiley   +1 more source