research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
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690-720 / 1000+ results research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Comparative Proteomic Analysis in Scar-Free Skin Regeneration in Acomys cahirinus and Scarring Mus musculus
The African spiny mouse heals skin without scarring due to different protein activity compared to the common house mouse, which heals with scarring.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research MOF-mediated histone H4 Lysine 16 acetylation governs mitochondrial and ciliary functions by controlling gene promoters
MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Author response: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
research Roles of Nutritional Selenium in Mouse Aging and Age‐related Degenerations
Selenium deficiency worsens aging symptoms in mice.
research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
research The Agouti Gene in Obesity: Central and Peripheral Mechanisms, and Therapeutic Implications
The agouti gene may help understand and treat obesity.
research Targeting Expression of the Human Vitamin D Receptor to the Keratinocytes of Vitamin D Receptor Null Mice Prevents Alopecia
Expressing the human vitamin D receptor in skin cells prevents hair loss in certain mice.
research Deleting keratins to find one
A new keratin gene was found in mice, explaining hair growth.
research New intranasal and injectable gene therapy for healthy life extension
Gene therapy in mice increased lifespan and improved health without causing cancer.
research Spontaneous Lesions of Endangered Geriatric Julia Creek Dunnarts (Sminthopsis douglasi, Archer 1979) with Emphasis in Reproductive Pathology
Aged Julia Creek dunnarts suffer from reproductive and hormonal issues, aiding conservation efforts.
research Activation of Nrf2 in keratinocytes causes chloracne (MADISH)‐like skin disease in mice
Activating Nrf2 in skin cells causes skin disease similar to chloracne in mice.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Pododermatitis in farmed mink in Canada
Pododermatitis in farmed mink is likely caused by an unknown infectious agent with secondary bacterial infection.
research The disrupted balance between hair follicles and sebaceous glands inHoxc13‐ablated rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Effect of mesenchymal stem cells on reducing melanin levels in response to UV radiation in male C57BL/6 mice
Mesenchymal stem cells may help reduce melanin in UV-exposed mice.
research Divergent roles of HDAC1 and HDAC2 in the regulation of epidermal development and tumorigenesis
HDAC1 is crucial for skin development and preventing tumors.
research Bone morphogenetic protein-2 (BMP-2) transactivates Dlx3 through Smad1 and Smad4: alternative mode for Dlx3 induction in mouse keratinocytes
BMP-2 activates the Dlx3 gene in mouse skin cells, important for hair and skin development.
research Influence of Depigmenting Chemical Agents on Hair and Skin Color in Yellow (Pheomelanic) and Black (Eumelanic) Mice
Certain chemicals cause hair graying in black mice but not yellow mice.
research JUMLAH SEL PMN, MN, FIBROBLAS, ANGIOGENESIS PADA MENCIT DM YANG DIINDUKSI ALLOXAN
Diabetic wounds heal slower than healthy wounds.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research 877 Loss of UBE2N in keratinocytes leads to skin inflammation and immune infiltration through IRAK1/4-mediated processes
Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.