Results 101 to 110 of about 184,242 (260)
Characteristics of genes showing non-Mendelian inheritance.
, 2020 Characteristics of genes showing non-Mendelian inheritance.
Kaushik Panda (3434813) +11 more
core +1 more source
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Psychobehavioral and physical health traits often co‐occur. Although previous studies have identified associations between neuroticism, psychological distress, insomnia, and inflammatory biomarkers such as C‐reactive protein (CRP), it remains unclear whether there is a genetic basis to these associations, and which biological pathways are ...
Lydia M Li +4 more
wiley +1 more source
Addressing the credibility crisis in Mendelian randomization
BMC MedicineBackground Genome-wide association studies have enabled Mendelian randomization analyses to be performed at an industrial scale. Two-sample summary data Mendelian randomization analyses can be performed using publicly available data by anyone who has ...
Stephen Burgess +4 more
doaj +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
The causal relationship between obesity and IgA nephropathy: a Mendelian randomization study
Linchuang shenzangbing zazhiObjectiveTo explore the potential causal relationship between obesity and IgA nephropathy through Mendelian randomization. MethodsSummary-level data from genome-wide association studies of obesity-related shapes (body mass index, percentage body fat ...
Peng-tao Dong +3 more
doaj +1 more source
Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
Annals of Neurology, EarlyView.Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca +24 more
wiley +1 more source
Genetic Resilience and Resistance in Alzheimer's Disease Diagnosis and Pathology
Annals of Neurology, EarlyView.Objective Some individuals avoid Alzheimer's disease (AD) pathology as they age, or retain cognition despite substantial pathology, suggesting mechanisms of resistance or resilience to neurodegeneration. Educational attainment (EA) is associated with reduced risk of cognitive decline, although the underlying mechanisms remain unclear.
Ganna Leonenko +8 more
wiley +1 more source
Associations of 35 Serum and Urine Biomarkers With Vascular Dementia—A Mendelian Randomization Study
Brain and BehaviorBackground The relationship between serum and urine biomarkers with vascular dementia (VD) has been increasingly highlighted by observational studies. Yet, the causal nature underlying these associations remains elusive.
Xiaomin Zhu +8 more
doaj +1 more source
From Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Arthritis &Rheumatology, EarlyView.Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz +13 more
wiley +1 more source