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821
Endoplasmic Reticulum Stress-Associated Lipid Droplet Formation and Type II Diabetes
Published 2012-01-01Get full text
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822
Clinical Insight into Congenital Hypothyroidism Among Children
Published 2025-01-01“…Molecular, genetic, and technological advances have led to increased knowledge regarding neonatal thyroid hormone metabolism disorders. …”
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823
Characteristics of primary biliary cirrhosis in British Columbia's First Nations population
Published 2005-01-01Get full text
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824
Transcript Profiles of Stria Vascularis in Models of Waardenburg Syndrome
Published 2020-01-01Get full text
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825
The frequency of distribution of the genotypes of the IL4 polymorphism (rs 2243250) in psoriasis and psoriatic arthritis
Published 2019-02-01“…Psoriasis (PS) and psoriatic arthritis (PsA) are multifactorial diseases determined by the result of complex combined interaction of genetic and environmental factors. The study of genetic polymorphism of PS and PsA will allow identification of common diagnostic criteria for the progression of pathology. …”
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826
Diabetes and congenital malformations. Cienfuegos, 2005-2015
Published 2019-11-01“…<strong>Foundation:</strong> diabetes is the metabolic disorder with the greatest impact on maternal health and its offspring, with greater emphasis on congenital malformations.…”
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827
Ketamine Therapy in Complex Cases: A Cautionary Tale of Exacerbated Personality Traits and the Crucial Role of Comprehensive Follow-Up and Psychosocial Interventions
Published 2024-01-01“…The report delves into the patient’s complex background, including psychosocial stressors, genetic predisposition to depression, and a history of personality traits that may have influenced her response to ketamine. …”
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828
SERT-Deficient Mice Fed Western Diet Reveal Altered Metabolic and Pro-Inflammatory Responses of the Liver: A Link to Abnormal Behaviors
Published 2025-01-01“…Background: The inheritance of the short SLC6A4 allele, encoding the serotonin transporter (SERT) in humans, increases susceptibility to neuropsychiatric and metabolic disorders, with aging and female sex further exacerbating these conditions. …”
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829
Just a SNP away: The future of in vivo massively parallel reporter assay
Published 2025-02-01Get full text
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830
A Comprehensive Review of Zavegepant as Abortive Treatment for Migraine
Published 2022-06-01“…Migraine headache is a widespread and complex neurobiological disorder that is characterized by unilateral headaches that are often accompanied by photophobia and phonophobia. …”
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831
Potential Biomarkers of the Earliest Clinical Stages of Parkinson’s Disease
Published 2015-01-01Get full text
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832
RNA-Targeting CRISPR/CasRx system relieves disease symptoms in Huntington’s disease models
Published 2025-01-01“…Furthermore, the success of this approach provides valuable insights and novel avenues for the treatment of other genetic disorders caused by gene mutations.…”
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833
Novel Haplotype Indicator for End-Stage Renal Disease Progression among Saudi Patients
Published 2019-01-01“…There are strong heritable components in the manifestation of the disease with a genetic predisposition to renal disorders, including focal segmental glomerulosclerosis and arterionephrosclerosis. …”
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834
Potential Role of JAK-STAT Signaling Pathway in the Neurogenic-to-Gliogenic Shift in Down Syndrome Brain
Published 2016-01-01Get full text
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835
Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy
Published 2015-01-01“…Gyrate atrophy is a rare genetical metabolic disorder affecting vision. Here, we report a 9-year-old boy with gyrate atrophy associated with bilateral macular edema at the time of diagnosis and the effect of long term metabolic control on macular edema. …”
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836
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837
The Role of the Endothelin System in the Vascular Dysregulation Involved in Retinitis Pigmentosa
Published 2015-01-01“…Retinitis pigmentosa is a clinical and genetic group of inherited retinal disorders characterized by alterations of photoreceptors and retinal pigment epithelium leading to a progressive concentric visual field restriction, which may bring about severe central vision impairment. …”
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838
Systematic dissection of pleiotropic loci and critical regulons in excitatory neurons and microglia relevant to neuropsychiatric and ocular diseases
Published 2025-01-01“…In sum, these findings underscore the genetic link between psychiatric disorders and ocular diseases.…”
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839
PPAR𝛾, PTEN, and the Fight against Cancer
Published 2008-01-01“…Indeed, several in vivo studies have demonstrated that genetic alterations of PPAR𝛾 can promote tumor progression. …”
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840
Chronic Myeloid Leukemia Relapsing 25 Years after Allogenic Stem Cell Transplantation
Published 2018-01-01Get full text
Article