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761
Challenges of Analysing Gene-Environment Interactions in Mouse Models of Schizophrenia
Published 2011-01-01“…The modelling of neuropsychiatric disease using the mouse has provided a wealth of information regarding the relationship between specific genetic lesions and behavioural endophenotypes. However, it is becoming increasingly apparent that synergy between genetic and nongenetic factors is a key feature of these disorders that must also be taken into account. …”
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762
Diagnostics and Treatment of Esophageal Achalasia (Clinical Guidelines of the Russian Gastroenterological Association, Russian Scientific Medical Society of Internal Medicine, Russ...
Published 2025-02-01“…The following hypotheses have been proposed as the main mechanisms for the development of achalasia: genetic predisposition, exposure to viral infections, and idiopathic autoimmune triggers. …”
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763
Red flags to suspect inborn errors of immunity in patients with autoimmune diseases
Published 2024-12-01“…An early diagnosis of a monogenic disorder allows for the tailoring of effective treatment plans, providing prognostic information to families, and offering genetic counseling.…”
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764
Rozwój genetyki i nauk żywieniowych a działania na rzecz zachowania zdrowia
Published 2005-12-01“…Nutrition is a factor of major importance for health and also for development of diet related disorders. Nowadays there is no doubts that interaction between genes and nutrition plays a key role in health risk prediction and disease prevention. …”
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765
Advances in the etiopathogenesis of vitiligo
Published 2024-12-01“…Vitiligo is a disorder that causes depigmentation of the skin and can impact an individual’s quality of life, especially in those with darker skin types due to the contrasting nature. …”
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766
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767
A Case of Carbamazepine-Induced Aggravation of Self-Limited Epilepsy with Centrotemporal Spikes Epilepsy and Valproate-Induced Hyperammonemic Encephalopathy in a Child with Heteroz...
Published 2021-01-01“…Tandem mass spectrometry did not show significant abnormality in the amino acid profile. Specific genetic analysis revealed a c.2756 C > T.p (Ser919Leu) heterozygote genetic mutation of the CSP 1 gene. …”
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768
Duchenne muscular dystrophy: recent insights in brain related comorbidities
Published 2025-02-01“…This suggests that future genetic therapies could address both muscle and brain dysfunction in DMD patients.…”
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769
Genotoxicity Biomarkers Study in Agricultural Workers Exposed to Pesticides: a Systematic Review
Published 2024-11-01“…Genotoxicity biomarkers are an effective tool to assess the impact of pesticides on genetic material. A literature review was conducted to gain insight into genotoxicity biomarkers in South American agricultural workers exposed to pesticides. …”
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770
Expression study of Wnt/β-catenin signaling pathway associated lncRNAs in schizophrenia
Published 2025-01-01Get full text
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771
Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum
Published 2012-01-01“…Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. …”
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772
A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome
Published 2025-12-01“…The causative factors of PCOS are complex, and genetic structure remains a long-standing medical challenge in genetics. …”
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773
Novel Role of Pin1-Cis P-Tau-ApoE Axis in the Pathogenesis of Preeclampsia and Its Connection with Dementia
Published 2024-12-01“…This review will also cover genetic polymorphisms in the ApoE alleles leading to dyslipidemia induction that may regulate the pathways causing preE or dementia-like features in the reproductive age or later in life, respectively.…”
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774
Isolation of Intact Mitochondria From Drosophila melanogaster and Assessment of Mitochondrial Respiratory Capacity Using Seahorse Analyzer
Published 2025-02-01“…The rapid biochemical assessment of mitochondria, in combination with the utility of Drosophila as an in vivo genetic model system, offers great potential for researchers to probe the impact of genetics and pharmacologic interventions on mitochondrial respiratory capacity.…”
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775
Association of a BACE1 Gene Polymorphism with Parkinson’s Disease in a Norwegian Population
Published 2015-01-01Get full text
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776
Adult-onset Still's disease: A great masquerader triggered by hepatitis A infection
Published 2020-01-01“…Various infectious triggers in a genetically susceptible host have been described in literature. …”
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777
Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN
Published 2024-12-01“…Progerias are rare hereditary genetic disorders that cause the onset of aging to occur earlier than generally expected, which initiates the progression of many age-related diseases. …”
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778
Oral Manifestations of Crohn’s Disease: A Case Report and Review of the Literature
Published 2015-01-01“…Crohn’s disease (CD) is an inflammatory disorder of the gastrointestinal tract that is likely caused by an inappropriate mucosal inflammatory response to intestinal bacteria in a genetically predisposed host. …”
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779
Celiac Disease Assocaited with Primary Biliary Cirrhosis in a Coast Salish Native
Published 1994-01-01“…These patients are the first reported natives in Canada with celiac disease, a disorder believed to be genetically based but dependent on environmental factors for its clinical expression. …”
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780
Canine circovirus: an emerging virus of dogs and wild canids
Published 2025-02-01“…Belonging to the Circoviridae family, CanineCV exhibits genetic variability and has been associated with various clinical manifestations, including gastroenteritis, respiratory symptoms, and neurological disorders. …”
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