Results 141 to 150 of about 4,846,243 (320)
Primary Atopic Disorders: Expanding Field of Inborn Errors of Immunity
Inborn errors of immunity cover a broad spectrum of diseases from immune deficiency syndromes to hyperinflammatory conditions. Primary atopic disorders are a recent member of this spectrum as a group that embracing monogenic immune deregulatory diseases ...
Yasemin Kendir-Demirkol +3 more
core +2 more sources
CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome
Advanced Science, EarlyView.By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen +11 more
wiley +1 more source
Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre
Orphanet Journal of Rare DiseasesRare disorders comprise of ~ 7500 different conditions affecting multiple systems. Diagnosis of rare diseases is complex due to dearth of specialized medical professionals, testing labs and limited therapeutic options.
J. Sheth +50 more
semanticscholar +1 more source
Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia [PDF]
The Pan African Medical Journal, 2011 BACKGROUND: Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern ...
Waleed Hamad Al Bu Ali +3 more
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CHD8‐Dependent Chromatin Licensing Sustains Trophoblast Stem Cell Transcriptional Programs
Advanced Science, EarlyView.In this study, Huang et al., identify chromatin remodeler CHD8 as an essential factor in TSC maintenance and placental development. CHD8‐dependent chromatin accessibility supports the occupancy of key trophoblast TFs and is coupled to KMT2A‐associated H3K4me3 deposition at TSC stem and cell cycle genes, providing a permissive chromatin environment for ...
Yuanyuan Huang +16 more
wiley +1 more source
Advanced Science, EarlyView.GALK1 acts as a protein kinase beyond the phosphorylation of galactose. GALK1 phosphorylates TIMM13 at Y73 in the cytoplasm. This phosphorylation prevents premature oxidative folding of TIMM13 and ensures its entrance into the intermembrane space of mitochondrion, positively regulating mitochondrial respiration.
Chang Woo Ko +5 more
wiley +1 more source
Severe infectious diseases remain the leading cause of death in children and young adults worldwide. Monogenic inborn errors of immunity (IEIs) are traditionally defined as a heterogeneous group of rare inborn genetic diseases affecting the functioning ...
Van-Den-Rym, Ana +23 more
core +1 more source
Advanced Science, EarlyView.Integrating single‐cell and spatial transcriptomics reveals human ventricular septal defect (VSD) as a disease of microenvironmental insufficiency and structural remodeling arrest. Attenuated endothelial‐fibroblast crosstalk, alongside downregulated THBS1/TGF‐β1 and MMP2 signaling networks, impairs the endothelial‐to‐mesenchymal transition (EndoMT) and
Xiaoyuan Zhang +9 more
wiley +1 more source
Blue Light Receptor PHR2‐Mediated Spectrum Antiviral Immunity
Advanced Science, EarlyView.Blue light suppresses RBSDV through the blue‐light receptor ZmPHR2, which interacts with ZmISP in chloroplasts to trigger ROS burst and antiviral defense. The viral effector P6 enhances ZmPHR2–ZmISP interaction, alters their distribution, and suppresses ROS.
Runyi Chen +17 more
wiley +1 more source
Thought of distinguishing pathogenic gene mutation from no harm mutation in clinical practice
Chinese Journal of Contemporary Neurology and Neurosurgery, 2017 DOI: 10.3969/j.issn.1672-6731.2017.08 ...
Cheng ZHANG
doaj