A5044370575- Cleft Lip and Palate Research
- Genetic Associations and Epidemiology
- Craniofacial Disorders and Treatments
- Wheat and Barley Genetics and Pathology
- Epigenetics and DNA Methylation
- Molecular Biology Techniques and Applications
- Congenital Anomalies and Fetal Surgery
- dental development and anomalies
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Plant Disease Resistance and Genetics
- Tracheal and airway disorders
- Folate and B Vitamins Research
- Intracerebral and Subarachnoid Hemorrhage Research
- Genetic and phenotypic traits in livestock
- Genetic Mapping and Diversity in Plants and Animals
- Head and Neck Cancer Studies
- Cancer-related molecular mechanisms research
- Immune cells in cancer
- Gene expression and cancer classification
- Glaucoma and retinal disorders
- Intracranial Aneurysms: Treatment and Complications
- Bipolar Disorder and Treatment
- Nutrition, Genetics, and Disease
- Genomics and Chromatin Dynamics
Icahn School of Medicine at Mount Sinai
2021-2024
University of Pittsburgh
2018-2024
Chengdu University
2024
Zhejiang University of Science and Technology
2024
Peking University
2015-2023
KU Leuven
2019
University of Michigan
2012
Baylor Genetics
2012
Baylor College of Medicine
2012
Beijing Tongren Hospital
1993
Abstract Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of protein-coding regions genome identified causal role for ten genes concentration rare variant signals evolutionarily constrained 1 . This study—and other large-scale human genetics studies—was mainly composed individuals European (EUR) ancestry, generalizability findings non-EUR populations remains unclear. To address this gap, we...
Many factors influence human facial morphology, including genetics, age, nutrition, biomechanical forces, and endocrine factors. Moreover, features clearly differ between males females, these differences are driven primarily by the of sex hormones during growth development. Specific genetic variants known to circulating hormone levels in humans, which we hypothesize, turn, affect features. In this study, investigated effects testosterone-related on morphology. We tested 32 across 22...
The genetic basis for bipolar disorder (BPD) is complex with the involvement of multiple genes. As it well established that cyclic adenosine monophosphate (cAMP) signaling regulates behavior, we tested variants in 29 genes encode components this pathway associations BPD type I (BPD I) and II II). A total 1172 individuals I, 516 1728 controls were analyzed. Single SNP (single-nucleotide polymorphism), haplotype × interactions examined association BPD. Several statistically significant...
The analysis of contemporary genomic data typically operates on one-dimensional phenotypic measurements (e.g. standing height). Here we report a data-driven, family-informed strategy to facial phenotyping that searches for biologically relevant traits and reduces multivariate 3D shape variability into amendable univariate measurements, while preserving its structurally complex nature. We performed biometric identification siblings in sample 424 children, defining 1,048 sib-shared traits....
Facial morphology is highly variable, both within and among human populations, a sizable portion of this variation attributable to genetics. Previous genome scans have revealed more than 100 genetic loci associated with different aspects normal-range facial variation. Most these been detected in Europeans, few studies focusing on other ancestral groups. Consequently, the degree which traits share common basis across diverse sets humans remains largely unknown. We therefore investigated an...
Nonsyndromic cleft lip with or without palate (NSCL/P) is a common birth defect. Genetic variants causing syndromic orofacial clefts can also contribute to the etiology of NSCL/P. The purpose present study was explore gene–gene (G × G) interaction using single nucleotide polymorphic (SNP) markers in fibroblast growth factor (FGF) family and its receptors T‐box genes, which were associated clefts. Our conducted 806 Chinese NSCL/P case‐parent trios drawn from an international consortium. A...
Background: Oral clefts (OCs) are common human birth defects. Children with OCs in underdeveloped regions more likely to suffer from poverty and hardship their future lives. Here, we attempted estimate the prevalence of among live births Gansu Province 2008 understand epidemiologic pattern disease. Methods: A cross-sectional study was conducted January December Province. The delivered between were investigated through face-to-face questionnaire survey. Results: total 468 infants identified...
Objective Little consistent evidence is available for the association between risk of non‐syndromic cleft lip with or without palate ( NSCL /P) and any individual genes in folate/homocysteine metabolic pathway. We investigated folate pathway to further clarify its potential influence on /P considering gene–gene (G×G) interaction. Subjects methods selected markers 18 from applied Cordell's method test G×G interaction using 1,908 case–parent trios ascertained an international consortium where...
Abstract Background Nonsyndromic cleft lip with or without palate (NSCL/P) is a common birth defect complex etiology. One strategy for studying the genetic risk factors of NSCL/P to consider gene–gene interaction (G × G) among gene pathways having role in craniofacial development. The present study aimed investigate G cell adhesion pathway. Methods We carried out an analysis eight genes involved adherens junctions 806 Chinese case‐parent trios originally recruited genome‐wide association...
In this study, the seasonality of acute attack primary angle-closure glaucoma (PACG) was analysed. This retrospective case series included 283 patients (200 women, 83 men; mean age, 68.2 ± 10.3 years; range, 37-96 years) with PACG from a university-based clinic over 4 years. Patients' age and sex, date season onset attack, were Descriptive analysis von Mises distribution used for statistical analysis. The highest incidence observed in those aged 60-69 years (34.6%). showed that greater June...
One challenge in conducting DNA methylation-based epigenome-wide association studies (EWAS) is the appropriate cleaning and quality-checking of data to minimize biases experimental artifacts, while simultaneously retaining potential biological signals. These issues are compounded that include multiple tissue types, and/or tissues for which reference unavailable assist adjusting cell-type mixture, example cerebral spinal fluid (CSF). For our study evaluated blood CSF taken from aneurysmal...
Background Small ubiquitin‐like modification, also known as sumoylation, is a crucial post‐translational regulatory mechanisms involved in development of the lip and palate. Recent studies reported two sumoylation target genes, MSX1 TP63 , to have achieved genome‐wide level significance tests association with nonsyndromic clefts. Here, we performed candidate gene analysis considering gene–gene gene–environment interaction for SUMO1 further explore etiology cleft or without palate (NSCL/P)....
The human face is a highly complex and variable structure resulting from the intricate coordination of numerous genetic non-genetic factors. Hundreds genomic loci impacting quantitative facial features have been identified. While these associations shown to influence morphology by altering mean size shape measures, their effect on trait variance remains unclear. We conducted genome-wide association analysis for 20 measurements in 2,447 European individuals identified several suggestive...
Abstract The contribution of low-frequency variants to the genetic architecture normal-range facial traits is unknown. We studied influence coding (MAF < 1%) in 8091 genes on multi-dimensional shape phenotypes a European cohort 2329 healthy individuals. Using three-dimensional images, we partitioned full face into 31 hierarchically arranged segments model morphology at multiple levels, and generated representing variation within each segment. used MultiSKAT, multivariate kernel regression...
Non-syndromic cleft lip with or without palate (NSCL/P) is a common birth defect complex and heterogeneous etiology. A recent genome-wide association study (GWAS) among Chinese populations has identified new region at 16p13.3 as being associated NSCL/P, which requires further replication. Here, we attempted to replicate clarify the genetic between this well testing for potential gene-gene (G × G) gene-environment E) interactions. We conducted transmission disequilibrium tests on 69 single...
Abstract Schizophrenia is a chronic mental illness that amongst the most debilitating conditions encountered in medical practice. A recent landmark schizophrenia study of protein-coding regions genome identified causal role for ten genes and concentration rare variant signals evolutionarily constrained 1 . This -- other large-scale human genetic studies was mainly composed individuals European ancestry, generalizability findings non-European populations unclear. To address this gap...