research Convergent Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
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research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Tracing the Cellular Origin of Cancer
Understanding where cancer cells come from helps create better prevention and treatment methods.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research A Locus on Distal Chromosome 10 (Ahl4) Affecting Age-Related Hearing Loss in A/J Mice
Scientists found a gene in mice that causes early hearing loss.
research The Transcriptional Landscape of Seasonal Coat Color Moult in the Snowshoe Hare
Researchers found genes that control hair color and growth change before the visible coat color changes in snowshoe hares.
research Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.
research Metabolic Dysfunction in Female Mice with Disruption of 5α-Reductase 1
Female mice with disrupted 5α-reductase 1 had significant metabolic issues, including stress response problems, insulin resistance, liver fat buildup, and obesity.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research The Role of Astrotactin2 in Regulating Mammalian Skin Polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Spatiotemporal Control of CRISPR/Cas9 Gene Editing
The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.
research Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin
Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
research Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research The Functional Relevance of the Type 1 Cytokines IFN-γ and IL-2 in Alopecia Areata of C3H/HeJ Mice
IFN-γ and IL-2 are important for T cell activation in hair loss in mice.
research The Alopecia Areata Phenotype Is Induced by the Water Avoidance Stress Test in CCHCR1-Deficient Mice
Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
research The Relevance of Collagen XVII Expression in Epidermal Differentiation and Proliferation
Collagen XVII is crucial for skin cell growth and nail health.
research Mouse Models with a Disrupted PTHrP Gene or a Disrupted PTH Gene (PTH−/− Mice)
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Pathophysiological Mechanisms Implicated in Postpartum Depression
Postpartum depression is linked to changes in brain chemicals, inflammation, stress, and certain genes, and can potentially be identified by markers like specific steroids, serotonin levels, and vitamin D levels.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research Keratinocyte-Specific Ablation of the NF-κB Regulatory Protein A20 (TNFAIP3) Reveals a Role in the Control of Epidermal Homeostasis
A20 protein is crucial for normal skin and hair development.
research Targeted Skin Overexpression of the Mineralocorticoid Receptor in Mice Causes Epidermal Atrophy, Premature Skin Barrier Formation, Eye Abnormalities, and Alopecia
Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Basal Cell Carcinoma, Hedgehog Signaling, and Targeted Therapeutics: The Long and Winding Road
New treatments targeting the Hedgehog pathway can help treat advanced skin cancer but may have side effects and their effectiveness in early stages is unknown.
research Steroid 5α-Reductase 2 Deficiency Leads to Reduced Dominance-Related and Impulse-Control Behaviors
Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
research Allopregnanolone Is Required for Prepulse Inhibition Deficits Induced by D1 Dopamine Receptor Activation
Allopregnanolone is needed for certain brain processing issues caused by D1 dopamine receptor activation.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.