research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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930-960 / 1000+ results research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research LGR5 is a conserved marker of hair follicle stem cells in multiple species and is present early and throughout follicle morphogenesis
LGR5 is a common marker of hair follicle stem cells in different animals and is important for hair growth and regeneration.
research Gingerol ameliorates chronic graft-versus-host disease by regulating treg/Th17 transdifferenciation
Gingerol may help treat chronic graft-versus-host disease by improving immune cell balance.
research EGFR Inhibitors and Cutaneous Complications: A Practical Approach to Management
The document provides advice on how to recognize and treat skin-related side effects of cancer drugs known as EGFR inhibitors.
research Scarring alopecia associated with the epidermal growth factor receptor inhibitor erlotinib
Erlotinib may cause scarring hair loss.
research GH-IGF-I axis in non-obese women with functional hyperandrogenism
The GH-IGF-I axis is likely involved in the hormonal imbalances seen in non-obese women with functional hyperandrogenism.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research Characterisation and functional analysis of the WIF1 gene and its role in hair follicle growth and development of the Angora rabbit
The WIF1 gene is crucial for hair growth in Angora rabbits.
research Skin toxicity caused by EGFR antagonists—An autoinflammatory condition triggered by deregulated IL‐1 signaling?
Blocking EGFR can cause skin inflammation by disrupting IL-1 signaling.
research Epidermal Growth Factor Receptor Inhibitor–Induced Symmetrical Drug-Related Intertriginous and Flexural Exanthema: Should You Discontinue the Offending Agent?
You might not need to stop cancer treatment if you get a rare skin reaction from EGFR inhibitors, as skin treatments can help manage it.
research Efficient Gene Editing for Heart Disease via ELIP-Based CRISPR Delivery System
ELIP-based CRISPR delivery improves heart disease gene editing but needs more testing.
research LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation
A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
research DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
Genetic testing can diagnose hair loss linked to DSG4 gene variants.
research Roles of Type 10 17beta-Hydroxysteroid Dehydrogenase in Intracrinology and Metabolism of Isoleucine and Fatty Acids
This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
research Investigating the role of notch ligands regulating epidermal stem cell differentiation
Jag2 is essential for proper skin cell differentiation and organization.
research Ovine KRT81 Variants and Their Influence on Selected Wool Traits of Commercial Value
KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.
research Transcriptome-based selection and validation of optimal house-keeping genes for skin research in goats (Capra hircus)
NCBP3, SDHA, and PTPRA are the best genes for accurate goat skin research.
research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
research Distribution of Epidermal Growth Factor Receptors in Rat Tissues During Embryonic Skin Development, Hair Formation, and the Adult Hair Growth Cycle
research Combination of Transcriptomics and Proteomics Reveals Differentially Expressed Genes and Proteins in the Skin of EDAR Gene-Targeted and Wildtype Cashmere Goats
Deleting the EDAR gene in Cashmere goats affects genes and proteins related to hair growth.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research The Naked (N) Mutation, Chromosome 15
The naked mutation in mice causes hair loss and helps identify keratin genes.
research Epiregulin promotes hair growth via EGFR‐medicated epidermal and ErbB4‐mediated dermal stimulation
Epiregulin can help hair grow and may be useful for treating hair loss.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Spectrum of clinical manifestations of SLE patients from India and its correlation with KIR gene polymorphism
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
research Isoginkgetin, a natural biflavonoid from Ginkgo biloba, inhibits inflammatory response in endothelial cells via suppressing NF-κB activation
Isoginkgetin reduces inflammation in cells by blocking NF-κB activation.
research Molecular cloning,sequence analysis and expression of goat Edagene
The Eda gene helps regulate the hair cycle in goats.