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106 resultados encontrados.

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Genetic analysis of biopsy-related droplets in patients undergoing PGT-A and its potential application
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Genetic analysis of biopsy-related droplets in patients undergoing PGT-A and its potential application
Zhiqing Huang et al · Frontiers Media S.A · 2026 · ISSN 1664-2392
PurposePreimplantation genetic testing for aneuploidy (PGT-A) is essential for selecting embryos free from chromosomal abnormalities before transfer. However, challenges such as detection failures, mosaicism, and the lim...
LCC LCC:Diseases of the endocrine glands. Clinical endocrinologyIdioma eng
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Genetic alternative splicing regulation mapping of cartilage and synovium reveals tissue-specific mechanisms of joint-related traits
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Genetic alternative splicing regulation mapping of cartilage and synovium reveals tissue-specific mechanisms of joint-related traits
Wen Tian et al · Nature Portfolio · 2026 · ISSN 2041-1723
Abstract Cartilage and synovium are essential tissues involved in joint-related diseases and traits, including osteoarthritis (OA), rheumatoid arthritis (RA), and human height. Although genome-wide association studies (G...
LCC TENDOlNjaWVuY2U~Idioma eng
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Genetic Prediction of Sepsis Severity Based on the Detection of MCP-1 Gene Polymorphism in Patients with Acquired Immunological Disorders
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Genetic Prediction of Sepsis Severity Based on the Detection of MCP-1 Gene Polymorphism in Patients with Acquired Immunological Disorders
N. Matselski et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Background and AimsAcquired immunodeficiency in patients with hematological oncology is a serious and common complication, significantly impacting prognosis and quality of life. High doses of cytostatic drugs and the mal...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Genetic Spectrum of ATM Founder Mutations and Malignancy in Ataxia-Telangiectasia
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Genetic Spectrum of ATM Founder Mutations and Malignancy in Ataxia-Telangiectasia
Gloriana Villalobos-Alvarado et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundAtaxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by pathogenic variants in the ATM gene and characterized by genomic instability, immunodeficiency, and a markedly increased risk of canc...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Genetic variants associated with Sjögren’s disease subtypes stratified by clinical feature
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Genetic variants associated with Sjögren’s disease subtypes stratified by clinical feature
Nitesh Enduru et al · Frontiers Media S.A · 2026 · ISSN 1664-3224
IntroductionSjögren’s disease (SjD) is a chronic autoimmune disorder characterized by dry mouth (xerostomia) and dry eyes (xerophthalmia) due to inflammation in exocrine glands, particularly the salivary and lacrimal ...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Genetics of B Cell Maturation in Common Variable Immunodeficiency in Brazil: A Joint Analysis of the CVID-Brazil Cohort and the CNE3I Program
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Genetics of B Cell Maturation in Common Variable Immunodeficiency in Brazil: A Joint Analysis of the CVID-Brazil Cohort and the CNE3I Program
Beatriz Costa Todt et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency and remains underdiagnosed in Brazil due to limited knowledge of its genetic landscape. Since 2024, the Centro Nacional d...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005–2025)
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The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005–2025)
Juan Carlos Zenteno et al · BMC · 2026 · ISSN 1750-1172
Abstract Background Timely diagnosis and therapeutic management of rare diseases (RDs) are greatly hampered by limited clinical information and a lack of reliable epidemiological data. RDs constitute a heterogeneous grou...
LCC LCC:MedicineIdioma eng
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Tribbles pseudokinases in cardiovascular diseases: Molecular mechanisms, genetic insights, and therapeutic prospects
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Tribbles pseudokinases in cardiovascular diseases: Molecular mechanisms, genetic insights, and therapeutic prospects
Wenkang Zhang et al · Elsevier · 2026 · ISSN 1096-1186
Cardiovascular disease (CVD) represents a significant global public health challenge, with its high incidence and mortality rates imposing a substantial socioeconomic burden. Tribbles family proteins (TRIB1, TRIB2, and T...
LCC LCC:Therapeutics. PharmacologyIdioma eng
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Thiopurine Methyltransferase Levels and Azathioprine Outcomes in Thai Patients with Cutaneous Autoimmune Diseases
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Thiopurine Methyltransferase Levels and Azathioprine Outcomes in Thai Patients with Cutaneous Autoimmune Diseases
Pureesrisak P et al · Dove Medical Press · 2026 · ISSN 1178-7015
Purit Pureesrisak,1,2 Oraya Kwangsukstid,1 Pinnaree Kattipathanapong,1 Tanawatt Kootiratrakarn,1 Chonlaphat Sukasem,3 Dumrong Mairiang,4,5 Wenika Channakorn,1 Daraka Phainupong,1 Mingkwan Suphannaphong1 1Institute of Der...
LCC LCC:DermatologyIdioma eng
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Common and rare genetic variants show network convergence for a majority of human traits
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Common and rare genetic variants show network convergence for a majority of human traits
Sarah N Wright et al · Springer Nature · 2026 · ISSN 1469-3178
Abstract While both common and rare variants contribute to the genetic etiology of complex traits, whether their impacts manifest through the same effector genes and molecular mechanisms is not well understood. Here, we ...
LCC LCC:Biology (General)Idioma eng
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Diversidade genética do vírus da imunodeficiência humana tipo 1 (HIV-1) em mulheres infectadas de uma cidade do nordeste do Brasil Genetic diversity of human immunodeficiency virus type-1 (HIV-1) in infected women from a northeast city of Brazil
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Diversidade genética do vírus da imunodeficiência humana tipo 1 (HIV-1) em mulheres infectadas de uma cidade do nordeste do Brasil Genetic diversity of human immunodeficiency virus type-1 (HIV-1) in infected women from a northeast city of Brazil
Edson de Souza Santos et al · Federação Brasileira das Sociedades de Ginecologia e Obstetrícia · 2009 · ISSN 0100-7203
OBJETIVO: descrever a diversidade genética dos isolados de HIV-1 de mulheres soropositivas acompanhadas em um centro de referência. MÉTODOS: estudo transversal, no qual foram incluídas 96 mulheres com dois testes sor...
LCC TENDOkd5bmVjb2xvZ3kgYW5kIG9ic3RldHJpY3M~Idioma eng
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Insulin Resistance Across Cerebrovascular and Related Disorders: Mechanisms, Measurement, Genetics, and Clinical Implications
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Insulin Resistance Across Cerebrovascular and Related Disorders: Mechanisms, Measurement, Genetics, and Clinical Implications
Chen K et al · Dove Medical Press · 2026 · ISSN 1178-2021
Kai Chen,1,* Yiqing Nong,1,* Ying Liu,2 Ziming Ye3 1Department of Neurology, Guangxi Medical University Kaiyuan Langdong Hospital, Nanning, 530023, People’s Republic of China; 2Department of Rehabilitat...
LCC LCC:Neurosciences. Biological psychiatry. Neuropsychiatry; LCC:Neurology. Diseases of the nervous systemIdioma eng
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Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases
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Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases
Daniela A. Braun et al · Springer · 2026 · ISSN 1420-9071
Abstract Nuclear pore complexes serve as essential gatekeepers of the nuclear envelope, playing crucial roles in regulating transport across the nuclear envelope and maintaining compartmentalization between the nucleus a...
LCC LCC:Biology (General); TENDOk1pY3JvYmlvbG9neQ~~Idioma eng
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Psoriasis as a risk factor of cardiovascular diseases
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Psoriasis as a risk factor of cardiovascular diseases
Olivia Rita Komorowska et al · Termedia Publishing House · 2014 · ISSN 0033-2526
Psoriasis is a chronic inflammatory skin disease associated with increased proliferation of the epidermis. Combination of genetic, immunological and environmental factors underlies the skin lesion. Until recently, psoria...
LCC LCC:Medicine; LCC:DermatologyIdioma eng
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Vitiligo and autoimmune diseases
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Vitiligo and autoimmune diseases
Magdalena Kutwin et al · Termedia Publishing House · 2016 · ISSN 0033-2526
Vitiligo is a quite frequently occurring skin disease. Although it does not cause any pain or internal organ damage, it constitutes a significant cosmetic problem having a significant impact on quality of life. A number ...
LCC LCC:Medicine; LCC:DermatologyIdioma eng
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Detection and genetic characterization of the GP60 Gene of Cryptosporidium parvum isolated from HIV+/AIDS patients - Kurdistan Province, Northwest Iran: predominance of subtype IId
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Detection and genetic characterization of the GP60 Gene of Cryptosporidium parvum isolated from HIV+/AIDS patients - Kurdistan Province, Northwest Iran: predominance of subtype IId
Fares Bahrami et al · BMC · 2026 · ISSN 1757-4749
Abstract Background Cryptosporidium spp. is an important intestinal protozoan parasite causing morbidity and mortality in immunocompromised patients, particularly those with HIV+/AIDS. A cross-sectional study was conduct...
LCC LCC:Diseases of the digestive system. GastroenterologyIdioma eng
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Multi-omics integration of molecular genetics, cytogenetics and immunophenotyping: a novel prognostic model for immune landscape characterization and outcome prediction in Chinese patients with acute myeloid leukemia
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Multi-omics integration of molecular genetics, cytogenetics and immunophenotyping: a novel prognostic model for immune landscape characterization and outcome prediction in Chinese patients with acute myeloid leukemia
Fengli Li et al · Frontiers Media S.A · 2026 · ISSN 1664-3224
BackgroundCurrent genetic risk stratification systems for acute myeloid leukemia (AML), including the 2017 European Leukemia Network (ELN), 2022 ELN, and 2023 China (CN) stratifications, inconsistently categorize key gen...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome
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Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome
Yaqi Wang et al · BMC · 2026 · ISSN 1750-1172
Abstract Background and aims Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder characterized by connective tissue fragility; however, respiratory manifestations such as pulmonary hemorrhage and spontaneou...
LCC LCC:MedicineIdioma eng
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Transposable elements as a possible missing link between genetic predisposition and environmental triggers of autoimmune disorders: insights from type 1 diabetes, systemic lupus erythematosus and rheumatoid arthritis
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Transposable elements as a possible missing link between genetic predisposition and environmental triggers of autoimmune disorders: insights from type 1 diabetes, systemic lupus erythematosus and rheumatoid arthritis
Karolina Mužina et al · Frontiers Media S.A · 2026 · ISSN 1664-3224
Transposable elements (TEs) make up almost half of the human genome and are among its most densely methylated regions. Their epigenetic silencing is crucial for genomic stability and immune homeostasis, and accumulating ...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Interactive effects of telomere length and genetic variants on Alzheimer disease risk across multiple ancestral populations
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Interactive effects of telomere length and genetic variants on Alzheimer disease risk across multiple ancestral populations
Zainab Khurshid et al · BMC · 2026 · ISSN 1758-9193
Abstract Background Telomere length (TL), a biomarker of biological aging, but its association with Alzheimer’s disease (AD) remains unclear. Methods We estimated TL in whole-genome sequencing data from 35,014 Alzheime...
LCC LCC:Neurosciences. Biological psychiatry. Neuropsychiatry; LCC:Neurology. Diseases of the nervous systemIdioma eng
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A genetic toolkit for the human gut bacterium Mediterraneibacter gnavus identifies capsular polysaccharides as a competitive colonization factor
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A genetic toolkit for the human gut bacterium Mediterraneibacter gnavus identifies capsular polysaccharides as a competitive colonization factor
Nozomu Obana et al · Nature Portfolio · 2026 · ISSN 2041-1723
Abstract Mediterraneibacter gnavus is a human symbiotic gut bacterium whose abundance often increases in patients with various diseases, such as active inflammatory bowel disease (IBD). However, the genetic factors gover...
LCC TENDOlNjaWVuY2U~Idioma eng
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Ancestry-specific genetics of amino acids and microbiota-related metabolites reveal causal effects on cardiometabolic disease in Chinese populations
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Ancestry-specific genetics of amino acids and microbiota-related metabolites reveal causal effects on cardiometabolic disease in Chinese populations
Yilan Ding et al · BMC · 2026 · ISSN 1475-2840
Abstract Background The genetic architecture of circulating amino acids (AAs) and microbiota-related metabolites (MRMs) in relation to cardiometabolic disease remains poorly characterized in East Asian populations, limit...
LCC TENDOkRpc2Vhc2VzIG9mIHRoZSBjaXJjdWxhdG9yeSAoQ2FyZGlvdmFzY3VsYXIpIHN5c3RlbQ~~Idioma eng
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Clinical and Genetic Spectrum of Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Like Disorders in Brazil: Insights from the First Year of the CNE3i National Cohort
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Clinical and Genetic Spectrum of Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Like Disorders in Brazil: Insights from the First Year of the CNE3i National Cohort
Marcia Toraiwa Iwashita et al · Rockefeller University Press · 2026 · ISSN 3065-8993
The recognition of disorders of immune dysregulation, particularly those presenting with lymphoproliferation and systemic autoimmunity (International Union of Immunological Societies [IUIS] Group 4.6), has markedly incre...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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Clinical and Genetic Spectrum of Pyrinopathies in Brazilian Patients: Insights from the First Year of the CNE3i National Cohort
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Clinical and Genetic Spectrum of Pyrinopathies in Brazilian Patients: Insights from the First Year of the CNE3i National Cohort
Leonardo Oliveira Mendonça et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Although Brazil has experienced substantial immigration from the Middle East and Italy, regions with a higher prevalence of pyrin-associated autoinflammatory diseases, pyrinopathies, remain under-investigated in the coun...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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