Results 61 to 70 of about 2,358 (194)
Heat Stress Triggers Nuclear Invagination and Spatial Compartmentalization of Protein Metabolism
Cell Proliferation, EarlyView.Cells adapt heat stress to shape a nuclear invagination region function as “protein metabolism hotspots”, where both protein production and degradation are enhanced. ABSTRACT Heat stress is a common challenge for cells, causing multiple types of cellular damage while triggering complex stress responses, including the highly conserved mechanism known as
Zhi‐Hao Zhang +11 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2019 Background Treacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with an incidence rate of 1/50,000 live births.
Xinmiao Fan +6 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2021 Background Orofacial clefts (OFCs) are congenital malformations of the face and palate, with an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a three‐dimensional abnormality of the leg, ankle, and feet that ...
Lord J. J. Gowans +17 more
doaj +1 more source
Associations between variants of FADS genes and omega-3 and omega-6 milk fatty acids of Canadian Holstein cows [PDF]
, 2014 BACKGROUND: Fatty acid desaturase 1 (FADS1) and 2 (FADS2) genes code respectively for the enzymes delta-5 and delta-6 desaturases which are rate limiting enzymes in the synthesis of polyunsaturated omega-3 and omega-6 fatty acids (FAs). Omega-3 and-6 FAs
Eveline M Ibeagha-Awemu +3 more
core +1 more source
The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus [PDF]
Human Molecular Genetics, 1998 The TCOF1 gene product, treacle, responsible for the craniofacial disorder Treacher Collins syndrome, has been predicted to be a member of a class of nucleolar phosphoproteins based on its primary amino acid sequence. Treacle is a low complexity protein with ten repeating units of acidic and basic residues, each of which contains a large number of ...
S T, Winokur, R, Shiang
openaire +2 more sources
Orthodontics &Craniofacial Research, EarlyView.ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng +2 more
wiley +1 more source
Cell autonomous regulation of herpes and influenza virus infection by the circadian clock. [PDF]
, 2016 Viruses are intracellular pathogens that hijack host cell machinery and resources to replicate. Rather than being constant, host physiology is rhythmic, undergoing circadian (∼24 h) oscillations in many virus-relevant pathways, but whether daily rhythms ...
Edgar, Rachel S +6 more
core +2 more sources
Tissue Engineered Human Elastic Cartilage From Primary Auricular Chondrocytes for Ear Reconstruction
Advanced Functional Materials, Volume 36, Issue 36, 4 May 2026.Despite over three decades of research, no tissue‐engineered solution for auricular reconstruction in microtia patients has reached clinical translation. The key challenge lies in generating functional elastic cartilage ex vivo. Here, we integrate synergistic cell‐biomaterial strategies to engineer auricular grafts with mechanical and histological ...
Philipp Fisch +13 more
wiley +1 more source
regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution [PDF]
, 2017 While synonymous single-nucleotide variants (sSNVs) have largely been unstudied, since they do not alter protein sequence, mounting evidence suggests that they may affect RNA conformation, splicing, and the stability of nascent-mRNAs to promote various ...
Cooper, David +12 more
core +2 more sources
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source