Prokaryotic cell membrane‑based protein technologies (Review) DOI Open Access

Mohammed Suhaib Al Huq,

Kalpana Raja,

I. R. Oviya

и другие.

World Academy of Sciences Journal, Год журнала: 2024, Номер 6(2)

Опубликована: Янв. 29, 2024

The biological cell membranes play a crucial role in living tissues through heterogeneity of metabolic processes, such as apoptosis, necrosis, autophagy, signalling processes and disorders. Due to the sensitive nature proteins, utilization specialized instruments for carrying out experiments extraction, isolation, gene expression protein analyses is required. Currently, there are several available performing experiments. present study selectively discusses bioanalytical techniques, including electrophoresis chromatographic sequencing approaches computational that have been created result difficulties researching membrane glycoproteomic techniques. Since these techniques provided an efficient strategy with which enrich characterize plasma‑membrane proteomes, some recent advancements also discussed. In addition, focuses particularly on prokaryotic organisms better understanding technologies. Hopefully, summary studies will help future researchers understand gaps behind technique its advances.

Язык: Английский

Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives DOI Creative Commons
Petar Brlek, Luka Bulić, Matea Bračić

и другие.

Cells, Год журнала: 2024, Номер 13(6), С. 504 - 504

Опубликована: Март 13, 2024

The integration of whole genome sequencing (WGS) into all aspects modern medicine represents the next step in evolution healthcare. Using this technology, scientists and physicians can observe entire human comprehensively, generating a plethora new data. Modern computational analysis entails advanced algorithms for variant detection, as well complex models classification. Data science machine learning play crucial role processing interpretation results, using enormous databases statistics to discover support current genotype–phenotype correlations. In clinical practice, technology has greatly enabled development personalized medicine, approaching each patient individually accordance with their genetic biochemical profile. most propulsive areas include rare disease genomics, oncogenomics, pharmacogenomics, neonatal screening, infectious genomics. Another application WGS lies field multi-omics, working towards complete biomolecular Further technological technologies led birth third fourth-generation sequencing, which long-read single-cell nanopore sequencing. These technologies, alongside continued implementation medical research show great promise future medicine.

Язык: Английский

Процитировано

34
Applications of artificial intelligence in clinical laboratory genomics DOI Creative Commons
Swaroop Aradhya, Flavia M. Facio, Hillery C. Metz

и другие.

American Journal of Medical Genetics Part C Seminars in Medical Genetics, Год журнала: 2023, Номер 193(3)

Опубликована: Июль 28, 2023

Abstract The transition from analog to digital technologies in clinical laboratory genomics is ushering an era of “big data” ways that will exceed human capacity rapidly and reproducibly analyze those data using conventional approaches. Accurately evaluating complex molecular facilitate timely diagnosis management genomic disorders require supportive artificial intelligence methods. These are already being introduced into identify variants DNA sequencing data, predict the effects on protein structure function inform interpretation pathogenicity, link phenotype ontologies genetic identified through exome or genome help clinicians reach diagnostic answers faster, correlate with tumor staging treatment approaches, utilize natural language processing critical published medical literature during analysis use interactive chatbots individuals who qualify for testing provide pre‐test post‐test education. With careful ethical development validation genomics, these advances expected significantly enhance abilities geneticists translate clearly synthesized information managing care their patients at scale.

Язык: Английский

Процитировано

26
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19 DOI
Noam Hadar, Vadim Dolgin,

Katya Oustinov

и другие.

Human Genetics, Год журнала: 2024, Номер 143(5), С. 695 - 701

Опубликована: Апрель 12, 2024

Язык: Английский

Процитировано

7
Genetic Variants Associated With Response to Platinum-Based Chemotherapy in Non-Small Cell Lung Cancer Patients: A Field Synopsis and Meta‐Analysis DOI Creative Commons

Hilary Sito,

Mohamad Ayub Khan Sharzehan,

Md Asiful Islam

и другие.

British Journal of Biomedical Science, Год журнала: 2024, Номер 81

Опубликована: Фев. 21, 2024

Publications on the associations of genetic variants with response to platinum-based chemotherapy (PBC) in NSCLC patients have surged over years, but results been inconsistent. Here, a comprehensive meta-analysis was conducted combine eligible studies for more accurate assessment pharmacogenetics PBC patients.

Язык: Английский

Процитировано

4
Genetic Landscape of Dystonia in Asian Indians DOI Open Access
Arti Saini, Inder Singh, Mukesh Kumar

и другие.

Movement Disorders Clinical Practice, Год журнала: 2025, Номер unknown

Опубликована: Янв. 3, 2025

Abstract Background Genomic variations associated with dystonia in Asian Indians remain largely unknown. Objectives To identify genomic alterations the Indian population using next generation sequencing approaches. Methods From September 2018 to December 2023, we enrolled 745 individuals including probands and family members, Movement Disorder Registry Biobank. Clinical demographic data were captured on a REDCap platform. We performed whole exome (WES) DNA specimens obtained from 267 isolated, combined or complex dystonia. Variants classified according joint guidelines of American College Medical Genetics Genomics (ACMG) Association Molecular Pathology (AMP). Results The mean age WES cohort was 33.8 ± 16.2 years, at onset (AAO) 25.6 17.7 years. 62.2% had isolated dystonia, 7.9% 29.2% phenotypes. identified pathogenic/ likely pathogenic variants 54 patients (20.2%) 14 novel known genes. THAP1 most common followed by PANK2, GLB1, PLA2G6, TOR1A, ANO3, VPS16, SGCE, SPG7, FTL other Multifocal/generalized distribution [OR: 4.1; 95% CI 1.4–12.2, P = 0.011] history 4.3; 2.1–8.9, < 0.001] positive yield WES. Conclusion frequent gene this cohort. Singleton identifiedpotentially approximately one out five tested, contributed management decisions 4%.

Язык: Английский

Процитировано

0
Novel Ectodysplasin-A Variants: Structural and Functional Basis of Hypohidrotic Ectodermal Dysplasia DOI Creative Commons
Prashant Ranjan, Chandra Devi,

Rajesh Bansal

и другие.

Research Square (Research Square), Год журнала: 2025, Номер unknown

Опубликована: Янв. 3, 2025

Abstract This study investigates two novel variants in the EDA, c.680G > A (p.G227E) and c.649_666del (Δ215–220), identified X-linked ectodermal dysplasia syndromic tooth agenesis cases. These were through Sanger sequencing mapped to highly conserved regions of EDA. Bioinformatics tools consistently classified them as deleterious, with significant disruptions predicted protein stability, hydrophobicity, secondary structure. Structural analysis revealed that p.G227E caused a glycine-to-glutamic acid substitution, altering hydrophobicity structure, while Δ215–220 disrupted hydrophobic region, leading increased instability Functional studies reduced expression EDA WNT4 proteins, alongside IκB levels decreased NF-κB mRNA expression, indicating impaired EDA-NF-κB signaling. Subcellular localization analyses demonstrated diminished cytoplasmic Variants corroborated by silico predictions. Post-translational modifications (PTMs) gene ontology (GO) alterations processes critical for development, including macromolecule biosynthesis, nitrogen metabolism, receptor Molecular dynamics simulations highlighted rigidity, compact flexibility proteins compared Wild Type (WT). Interestingly, neither variant significantly impacted calcium or mitochondrial potential under normal experimental conditions, suggesting their pathogenic effects arise primarily from interactions signaling pathways. integrates molecular, bioinformatics, functional elucidate pathogenicity these EDA variants, providing insights into mechanisms paving way future therapeutic strategies targeting variants.

Язык: Английский

Процитировано

0
The immunogenetic basis of severe herpes simplex infections in neonates and children: a review DOI
Megan H. Tucker, Maria Kalamvoki,

Kedar Tilak

и другие.

Pediatric Research, Год журнала: 2025, Номер unknown

Опубликована: Янв. 18, 2025

Язык: Английский

Процитировано

0
Genetic behind breast cancer: Germline and somatic factors DOI
Riya Sharma, Rahul Kumar Sharma,

Prasad Khodke

и другие.

Elsevier eBooks, Год журнала: 2025, Номер unknown, С. 69 - 88

Опубликована: Янв. 1, 2025

Язык: Английский

Процитировано

0
Predicting the impact of missense mutations on an unresolved protein’s stability, structure, and function: A case study of Alzheimer’s disease‐associated TREM2 R47H variant DOI Creative Commons
Joshua Pillai, Kijung Sung, Chengbiao Wu

и другие.

Computational and Structural Biotechnology Journal, Год журнала: 2025, Номер 27, С. 564 - 574

Опубликована: Янв. 1, 2025

Язык: Английский

Процитировано

0
MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data DOI Creative Commons
Joseph K. Aicher,

Dina Issakova,

Barry Slaff

и другие.

medRxiv (Cold Spring Harbor Laboratory), Год журнала: 2025, Номер unknown

Опубликована: Фев. 2, 2025

Abstract The current diagnostic rate for patients with suspected Mendelian genetic disorders is only 25 to 58%, even though whole exome sequencing (WES) part of the standard care. One reason low that traditional WES analysis methods struggle detect RNA splicing aberrations. It estimated 15-50% human pathogenic variants alter splicing, numerous splice-altering being causal known disorders. Developing reliable tools detect, quantify, prioritize, and visualize aberrations from patient therefore crucial. We present MAJIQ-CLIN, a method address this need augment clinical using RNA-Seq compare it existing tools. include first systematic evaluation accuracy such synthetic data across several aberration types transcript inclusion levels; we also evaluate on datasets biologically validated solved test cases. show MAJIQ-CLIN compares favorably in both efficiency, then use investigate unsolved cases Undiagnosed Diseases Network.

Язык: Английский

Процитировано

0