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Genetic Heterogeneity in Four Probands Reveals , , and Related Neurodevelopmental Disorders.
Biomedicines
November 2024
Translational Genomics Laboratory, Department of Biosciences, COMSATS University, Islamabad 45550, Pakistan.
: Neurodevelopmental disorders of genetic etiology are a highly diverse set of congenital recurrent complications triggered by irregularities in the basic tenets of brain development. : We present whole exome sequencing analysis and expression characteristics of the probands from four unrelated Pakistani consanguineous families with facial dysmorphism, neurodevelopmental, ophthalmic, auditory, verbal, psychiatric, behavioral, dental, and skeletal manifestations otherwise unexplained by clinical spectrum. : Whole exome sequencing identifies a novel, bi-allelic, missense variant in the gene [NM_152419.
View Article and Find Full Text PDFGYNs at the REI gates: unsolvable conundrum or unambiguous opportunity?
J Assist Reprod Genet
December 2024
Seattle Reproductive Medicine, Suite 400, Seattle, WA, 98104, USA.
Contemporary fertility care has matured from a restricted, special interest in women's health care where success sometimes made magazine covers to a well-honed start-to-finish process with ever-improving success rates and an ever-expanding panoply of treatment options. Innovations in both lab and clinic have been exponential and game changing. The specialty now finds itself in the enviable position of an extensive menu of highly successful treatment options but a complicated set of circumstances of access to these options.
View Article and Find Full Text PDFTopological -root Su-Schrieffer-Heeger model in a non-Hermitian photonic ring system.
Nanophotonics
January 2024
Departament de Física, Universitat Autònoma de Barcelona, E-08193 Bellaterra, Spain.
Article Synopsis
- Square-root topology is a new area in topological insulators that connects systems through squaring Hamiltonians, with extensions leading to higher-root versions that involve multiple squaring operations.* -
- This research develops a framework for general n-root topological insulators using the Su-Schrieffer-Heeger model, employing non-Hermitian models with generalized chiral symmetry and unique edge states in a complex energy spectrum.* -
- The study explores practical applications in photonic ring systems, where manipulated couplings can create high imaginary gauge fields, allowing for experimental validation of these new high-root topological models.*
Subclass IId bacteriocins targeting mannose phosphotransferase system-Structural diversity and implications for receptor interaction and antimicrobial activity.
PNAS Nexus
September 2024
Institute of Biochemistry and Biophysics, Polish Academy of Sciences (IBB PAS), 02-106 Warsaw, Poland.
The bacterial mannose phosphotransferase system (Man-PTS) mediates uptake of selected monosaccharides. Simultaneously, it is a receptor for diverse bacteriocins such as subclass IIa pediocin-like bacteriocins and some subclass IId ones (garvicins ABCQ, lactococcins ABZ, BacSJ, ubericin K, and angicin). So far, no attempt has been made to categorize this ever-expanding group of bacteriocins.
View Article and Find Full Text PDFDeveloping a scoring system for gene curation prioritization in lysosomal diseases.
Mol Genet Metab
October 2024
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States of America; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, United States of America. Electronic address:
Introduction: Diseases caused by lysosomal dysfunction often exhibit multisystemic involvement, resulting in substantial morbidity and mortality. Ensuring accurate diagnoses for individuals with lysosomal diseases (LD) is of great importance, especially with the increasing prominence of genetic testing as a primary diagnostic method. As the list of genes associated with LD continues to expand due to the use of more comprehensive tests such as exome and genome sequencing, it is imperative to understand the clinical validity of the genes, as well as identify appropriate genes for inclusion in multi-gene testing and sequencing panels.
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