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Diagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum.
J Clin Res Pediatr Endocrinol
January 2025
Department of Pediatric Endocrinology, Umraniye Training and Research Hospital, Istanbul, Türkiye.
Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.
View Article and Find Full Text PDFImmunoinformatics: A Veritable Toolbox for Livestock Omics and Veterinomics.
OMICS
January 2025
Animal Biochemistry Division, ICAR - National Dairy Research Institute, Karnal, India.
Immunoinformatics, an integrative field consisting of bioinformatics and immunology, has showcased its potential in addressing zoonotic diseases, as evidenced during the Coronavirus disease 2019 (COVID-19) pandemic. However, its application in livestock health remains largely untapped. This opinion commentary explores how immunoinformatics, combined with advancements in genomics, multi-omics integration, and genome editing technologies, can revolutionize livestock management by enhancing disease resistance, vaccine development, and productivity.
View Article and Find Full Text PDFAutomated craniofacial biometry with 3D T2w fetal MRI.
PLOS Digit Health
December 2024
Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King's College London, St Thomas' Hospital, London, United Kingdom.
Objectives: Evaluating craniofacial phenotype-genotype correlations prenatally is increasingly important; however, it is subjective and challenging with 3D ultrasound. We developed an automated label propagation pipeline using 3D motion- corrected, slice-to-volume reconstructed (SVR) fetal MRI for craniofacial measurements.
Methods: A literature review and expert consensus identified 31 craniofacial biometrics for fetal MRI.
Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.
BMC Med Genomics
December 2024
Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Background: Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder caused by pathogenic variants in the highly conserved biosynthetic pathway of molybdenum cofactor (MoCo), resulting in sulfite intoxication. MoCD may present in a clinically severe, fatal form marked by intractable seizures after birth, hyperekplexia, microcephaly and cerebral atrophy, or a later onset form with a more varied clinical course. Three types of MoCD have been described based on the effected gene along the MoCo synthesis pathway: type A (MOCS1); type B (MOCS2 or MOCS3) and type C (GPHN).
View Article and Find Full Text PDFConverging functional phenotyping with systems mapping to illuminate the genotype-phenotype associations.
Hortic Res
December 2024
Key Laboratory of Specialty Agri-product Quality and Hazard Controlling Technology of Zhejiang Province, College of Life Sciences, China Jiliang University, Hangzhou 310018, P.R. China.
Illuminating the phenotype-genotype black box under complex traits is an ambitious goal for researchers. The generation of temporally or spatially phenotypic data today has far outpaced its interpretation, due to their highly dynamic nature depending on the environment and developmental stages. Here, we propose an integrated enviro-pheno-geno functional approach to pinpoint the major challenges of decomposing physiological traits.
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