Search Results - "genetic variants"

Genetic diagnosis of inherited arrhythmogenic syndromes and sudden cardiac death in pediatrics

Authors: Martínez-Barrios, Estefanía

Contributors: University/Department: Universitat de Girona. Departament de Ciències Mèdiques

Thesis Advisors: Campuzano Larrea, Oscar, Sarquella Brugada, Georgia, Hospital Sant Joan de Déu

Source: TDX (Tesis Doctorals en Xarxa)

Subject Terms: Síndromes aritmogèniques hereditàries, Síndromes arritmogénicos hereditarios, Inherited arrhythmogenic syndromes, Mort cardíaca sobtada, Muerte súbita cardíaca, Sudden cardiac death, Diagnòstic genètic, Diagnóstico genético, Genetic diagnosis, Variants de significació incerta, Variantes de significado incierto, Variants of uncertain significance, SCN5A, Reclassificació de variants genètiques, Reclasificación de variantes genéticas, Genetic variants reclassification, Pediatria, Pediatría, Pediatrics

Time: 616.1

File Description: application/pdf

Access URL: http://hdl.handle.net/10803/695275

Genetic determinants orchestrating transcriptome regulation: nonsense-mediated mRNA decay and allele-specific expression variability in phenotypic diversity

Authors: Palou Márquez, Guillermo

Contributors: University/Department: Universitat Pompeu Fabra. Departament de Medicina i Ciències de la Vida

Thesis Advisors: Supek, Fran

Source: TDX (Tesis Doctorals en Xarxa)

Subject Terms: Allele-specific expression, Nonsense-mediated mRNA decay, Cancer transcriptomics, Genetic variants, Tumor evolution, Expresión específica de alelos, Degradación del ARN mensajero mediada por mutación terminadora, Transcriptómica del cáncer, Variantes genéticas, Evolución tumoral

File Description: application/pdf

Access URL: http://hdl.handle.net/10803/693611

Estudio de la regulación génica en el locus SCN5A-SCN10A y su implicación en la etiología del Síndrome de Brugada

Authors: Pérez Agustín, Adrián

Contributors: University/Department: Universitat de Girona. Departament de Ciències Mèdiques

Thesis Advisors: Pagans i Lista, Sara, Allegue Toscano, Catarina, Brugada, Ramon

Source: TDX (Tesis Doctorals en Xarxa)

Subject Terms: Síndrome de Brugada, Brugada syndrome, Variants genètiques, Variantes genéticas, Genetic variants, Variants no codificants, Variantes no codificantes, Non-coding variant, Locus SCN5A-SCN10A, SCN5A-SCN10A locus, Regulació de l'expressió gènica, Regulación de la expresión génica, Gene expression regulation

Time: 616.1

File Description: application/pdf

Access URL: http://hdl.handle.net/10803/688715

Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders

Authors: Carlund, Olivia Norberg, Anna Osterman, Pia et al.

Source: Scientific Reports. 15(1)

Subject Terms: Functional analysis, Genetic variants, Telomerase activity, Telomere biology disorders, Telomere length

File Description: electronic

Access URL: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-243409
https://doi.org/10.1038/s41598-025-12566-7

Genetic variants of LEAP2 are associated with anthropometric traits and circulating insulin-like growth factor-1 concentration: A UK Biobank study

Authors: Andreoli, María Florencia Gentreau, Mélissa Rukh, Gull et al.

Source: Diabetes, obesity and metabolism. 26(9):3565-3575

Subject Terms: IGF-1, LEAP2 genetic variants, obesity traits

File Description: electronic

Access URL: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-542044
https://doi.org/10.1111/dom.15695

De novo variant in GUCY2D gene causing atypical cone-rod dystrophy in a consanguineous family and literature review

Authors: Xin-He Fang Fa-Yong Ke Wen-Qing Zou et al.

Source: International Journal of Ophthalmology, Vol 18, Iss 7, Pp 1262-1269 (2025)

Subject Terms: Ophthalmology, genetic variants, autosomal dominant, cone-rod dystrophy, gucy2d gene, RE1-994

Access URL: https://doaj.org/article/7042e8d13d4d43e49112aa18602d381e

CCDC89 is required for optimal sperm motility and male fertility in mammals

Authors: Moira K O’Bryan Gülizar Saritas Joseph Nguyen et al.

Source: O'Bryan, M K, Saritas, G, Nguyen, J, Winge, S B, O'Connor, A E, Castillo-Madeen, H, Conrad, D F, Graffeo, M, Nosrati, R, Dunleavy, J E M, Almstrup, K & Houston, B J 2025, ' CCDC89 is required for optimal sperm motility and male fertility in mammals ', Human Reproduction, vol. 40, no. 9, pp. 1616–1628 . https://doi.org/10.1093/humrep/deaf126

Subject Terms: Genetic variants, Male infertility, Sperm motility, Sperm function, Ccdc89, Spermatogenesis

File Description: application/pdf

Access URL: https://curis.ku.dk/ws/files/474838121/deaf126.pdf

Discovering Genetic Variants in Hypertrophic Cardiomyopathy With Multiple Machine Learning Techniques

Authors: Dafne Lozano-Paredes Luis Bote-Curiel María Sabater-Molina et al.

Contributors: Dafne Lozano-Paredes Luis Bote-Curiel María Sabater-Molina et al.

Source: REDIUMH. Depósito Digital de la UMH
Universidad Miguel Hernández de Elche

Subject Terms: Genetic variants, Bioinformatics, CDU::6 - Ciencias aplicadas::62 - Ingeniería. Tecnología, Machine learning, Embeddings, Hypertrophic cardiomyopathy

File Description: application/pdf

Access URL: https://hdl.handle.net/11000/37192

Advances in Genetic Polymorphism Research in Rosacea: Mechanisms and Clinical Implications

Authors: Zhuangyi Wang Zhengzhong Zhang

Source: Clin Cosmet Investig Dermatol
Clinical, Cosmetic and Investigational Dermatology, Vol Volume 18, Iss Issue 1, Pp 1423-1429 (2025)

Subject Terms: gene polymorphism, genetic variants, RL1-803, Rosacea, susceptibility genes, genetics, Dermatology, Review

Access URL: https://doaj.org/article/3526c769d62d45a4b1804543a7992f32

Differential Causal Associations of Chronic Gastritis and Ulcerative Colitis with Melanoma Risk: A Mendelian Randomization Study Using Large-Sample GWAS Data

Authors: Jin R Lu J Cheng S et al.

Source: Clin Cosmet Investig Dermatol
Clinical, Cosmetic and Investigational Dermatology, Vol Volume 18, Iss Issue 1, Pp 1551-1563 (2025)

Subject Terms: chronic gastritis, genetic variants, RL1-803, Mendelian randomization, melanoma, Dermatology, ulcerative colitis, Original Research

Access URL: https://doaj.org/article/7f89e91c970f4f58a32e489567ca10b7

A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants

Authors: Mengyao Zeng Hongling Di Jie Ding et al.

Source: Kidney Int Rep
Kidney International Reports, Vol 10, Iss 6, Pp 2024-2034 (2025)

Subject Terms: prediction model, genetic variants, Translational Research, X-linked Alport syndrome, risk stratification, RC870-923, Diseases of the genitourinary system. Urology, kidney failure

Access URL: https://doaj.org/article/4b85b01816f64f48a0c53b8290230328

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants

Authors: Taha Reşid Özdemir Pınar Gençpınar Roza Sarıteke et al.

Source: Ann Indian Acad Neurol
Annals of Indian Academy of Neurology, Vol 28, Iss 3, Pp 353-362 (2025)

Subject Terms: genetic heterogeneity, neurodegenerative disorders, molecular diagnosis, Original Article, Neurology. Diseases of the nervous system, hereditary spastic paraplegia, RC346-429, targeted next-generation sequencing (ngs), novel genetic variants

Access URL: https://doaj.org/article/d8f45ee1a351449883eb787f16d07610

Caracterización de variantes recurrentes de UMOD (p.C255Y y p.Q316P) en una cohorte gallega: correlación genotipo-fenotipo e implicaciones clínicas

Authors: Eloísa Sánchez-Cazorla Borja Temes-Álvarez Pilar Oliveros-Martínez et al.

Source: Nefrología, Vol 45, Iss 5, Pp 369-380 (2025)

Subject Terms: Recurrent genetic variants, Galician population, Genotype-phenotype correlation, Uromodulin, Genetics, RC870-923, Diseases of the genitourinary system. Urology, UMOD

Access URL: https://doaj.org/article/f598d9d1f8be4e059777a39bbee6f6a2

Variants of Unknown Significance in Hyperlipidemia: A Diagnostic Quandary

Authors: Roulston, Gary Hart, Padraig Hamilton, Paul K.

Source: Roulston, G, Hart, P & Hamilton, P K 2025, 'Variants of unknown significance in hyperlipidemia: a diagnostic quandary', Journal of Applied Laboratory Medicine. https://doi.org/10.1093/jalm/jfaf027

Subject Terms: Genetic variants, hypercholesterolaemia

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/40259518
https://pure.qub.ac.uk/en/publications/74187c26-b801-4d92-8048-593d2ebe8ce0

Operational Experience of the Rospotrebnadzor Specialists during the Epidemic of Mpox in Eastern and Central Africa in 2024

Authors: N. Yu. Pshenichnaya E. V. Naidenova M. Yu. Kartashov et al.

Source: Проблемы особо опасных инфекций, Vol 0, Iss 1, Pp 96-104 (2025)

Subject Terms: mpox, monkeypox virus, genetic variants, Infectious and parasitic diseases, RC109-216, epidemic, central africa, east africa

Access URL: https://doaj.org/article/8cdc968074ba43d189b99d2d231690e0

Detection and quantification of true proteins, casein fractions and their genetic variants, and whey proteins in goat milk by reverse-phase high-performance liquid chromatography

Authors: Giorgia Secchi Nicolò Amalfitano Alessio Cecchinato et al.

Source: Journal of Dairy Science, Vol 108, Iss 4, Pp 3858-3867 (2025)

Subject Terms: genetic variants, Goats, Caseins, Genetic Variation, detailed protein profile, SF250.5-275, Milk Proteins, Dairying, SF221-250, Milk, Whey Proteins, goat milk, Animals, high-performance liquid chromatography, Chromatography, High Pressure Liquid, Dairy processing. Dairy products

Access URL: https://pubmed.ncbi.nlm.nih.gov/39890067
https://doaj.org/article/4a2ecc32239044b1afceab095053fb90

β-Casein A2 affects milk renneting properties, cheese yield before and after ripening, and alters the texture of Caciotta cheese produced in field conditions

Authors: Faggion S. Degano L. Carnier P. et al.

Source: Journal of Dairy Science, Vol 108, Iss 4, Pp 3199-3213 (2025)

Subject Terms: Food Handling, genetic variants, cheesemaking, Caseins, SF250.5-275, protein composition, Dairying, SF221-250, Milk, milk processing, Cheese, Animals, Cattle, Female, Chymosin, Dairy processing. Dairy products

Access URL: https://pubmed.ncbi.nlm.nih.gov/39890074
https://doaj.org/article/814a953e5b3547f0bcb35bdb5dbbc112

A genetically modulated Toll-like receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome.

Authors: Khan, Rehan Ji, Weizhen Guzman Rivera, Jeisac et al.

Subject Terms: LYST, MIS-C, SARS-CoV-2, genetic variants, hyperinflammatory syndrome, innate immunity

File Description: application/pdf

Access URL: https://escholarship.org/uc/item/5gn818f3
https://escholarship.org/content/qt5gn818f3/qt5gn818f3.pdf

Comparison of autism domains across thirty rare variant genotypes.

Authors: Ali, Nabila Chawner, Samuel Kushan-Wells, Leila et al.

Subject Terms: Autism, Copy number variants (CNVs), Rare genetic variants, Single gene variants (SGVs), Humans, Male, Female, Genotype, Autistic Disorder, Child, Genetic Predisposition to Disease, Adolescent, Phenotype, DNA Copy Number Variations, Surveys and Questionnaires, Child, Preschool, Genetic Association Studies

File Description: application/pdf

Access URL: https://escholarship.org/uc/item/3mt6t5hj
https://escholarship.org/content/qt3mt6t5hj/qt3mt6t5hj.pdf

A single non-coding SNP in FPGS modulates folate drug efficacy in acute lymphoblastic leukemia: data-driven exploration and experimental validation

Authors: Wenliang Yu Chenyang Li Yuning Meng et al.

Source: Molecular Biomedicine, Vol 6, Iss 1, Pp 1-18 (2025)

Subject Terms: Folylpoly-γ-glutamate synthetase, Non-coding SNP, Genetic variants, Acute lymphoblastic leukemia, Methotrexate, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2662-8651

Access URL: https://doaj.org/article/0416f26fc538446b94a769a8e1c9e365