Results 71 to 80 of about 74,278 (259)

Distinct effects of complement C4A and C4B copy number in Systemic Sclerosis serological and clinical subtypes

Arthritis &Rheumatology, Accepted Article.
Objective Complement component 4 (C4), encoded by C4A and C4B within the major histocompatibility complex (MHC) on chromosome 6, regulates the immune response and clears immune complexes. Variable copy number (CN) of C4 genes and retroviral HERV‐K element influence its function.
Javier Martínez‐López, Carlos Rangel‐Peláez, Inmaculada Rodriguez‐Martin, Alfredo Guillen‐Del‐Castillo, Carmen P Simeón‐Aznar, José L Callejas, International SSc Group; PRECISESADs Clinical Consortium, Oliver Distler, Susanna M Proudman, Mandana Nikpour, Australian Scleroderma Interest Group (ASIG), Nicolas Hunzelmann, Gianluca Moroncini, Jeska K de Vries‐Bouwstra, Ariane L Herrick, Yannick Allanore, Marta E. Alarcon‐Riquelme, Lorenzo Beretta, Shervin Assassi, Christopher P Denton, Maureen D Mayes, Javier Martin, Marialbert Acosta‐Herrera, Martin Kerick   +23 more
wiley   +1 more source

OGFRL1 deficiency causes CRMO via pathological osteoclastogenesis, with therapeutic response to TNF inhibitor

Arthritis &Rheumatology, Accepted Article.
Objectives To verify the pathogenesis of the OGFRL1 loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a CRMO patient and investigate the underlying mechanism. Methods Whole exome sequencing and Sanger sequencing were performed to identify and confirm the variant.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Predicting cervical cancer DNA methylation from genetic data using multivariate CMMP

Canadian Journal of Statistics, EarlyView.
Abstract Epigenetic modifications link the environment to gene expression and play a crucial role in tumour development. DNA methylation, in particular, is gaining attention in cancer research, including cervical cancer, the focus of this study.
Hang Zhang, Steven Chen, Raymond Balise, Jiming Jiang, Nagi Ayad, J. Sunil Rao   +5 more
wiley   +1 more source

Response to the Comment on “Development and Validation of a Machine Learning‐Based Marker for Early Detection and Prognosis Stratification of Nonalcoholic Fatty Liver Disease”

Advanced Science, EarlyView.
Lushan Xiao, Lin Zeng, Jiaren Wang, Chang Hong, Li Liu   +4 more
wiley   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Epigenotoxicity: Decoding the epigenetic imprints of genotoxic agents and their implications for regulatory genetic toxicology

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Regulatory genetic toxicology focuses on DNA damage and subsequent gene mutations. However, genotoxic agents can also affect epigenetic marks, and incorporation of epigenetic data into the regulatory framework may thus enhance the accuracy of risk assessment.
Roger Godschalk, Christopher Faulk, Jessica LaRocca, Jan van Benthem, Francesco Marchetti   +4 more
wiley   +1 more source

Genetic differentiation at methylation array probe SNPs leads to spurious results in meQTL discovery

, 2023
Gillian Meeks, Shyamalika Gopalan
openalex   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Marine n‐3 Polyunsaturated Fatty Acids Mitigate Obesity Traits Through PRDM16‐Driven Gene–Nutrient Interaction and Spatiotemporal Scale Browning Process

Food Frontiers, EarlyView.
This large cohort study of 45,664 participants from the UK Biobank provides strong epidemiological evidence that fish oil use was associated with 12% and 7% lower risks of obesity and high body fat percentage, respectively. Mechanistically, marine n‐3 polyunsaturated fatty acids mitigate obesity traits through PRDM16‐driven gene–nutrient interactions ...
Xiaohui Liu, Haoyu Li, Youyou Zheng, Xiaoqian Chen, Xuzhi Wan, Pan Zhuang, Wei Jia, Jianxin Yao, Haoyin Liu, Hongbo Shi, Xunan Lin, Yu Zhang, Jingjing Jiao   +12 more
wiley   +1 more source

A reference haplotype panel for genome-wide imputation of short tandem repeats

Nature Communications, 2018
Short-tandem repeats (STR), similar to single nucleotide polymorphisms (SNP), contribute to complex traits, but their ascertainment by next-generation sequencing is costly. Here, Saini et al.
Shubham Saini, Ileena Mitra, Nima Mousavi, Stephanie Feupe Fotsing, Melissa Gymrek   +4 more
doaj   +1 more source