research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
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research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research UTX (KDM6A) promotes differentiation noncatalytically in somatic self-renewing epithelia
UTX is crucial for skin differentiation and health, especially in females.
research Approaches to lifestyle management in polycystic ovary syndrome
Lifestyle changes like diet and exercise are key for treating overweight women with polycystic ovary syndrome.
research Genetic interplays between Msx2 and Foxn1 are required for Notch1 expression and hair shaft differentiation
Msx2 and Foxn1 are both crucial for hair growth and health.
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 Targeted expression of activated erbB-2 to the epidermis of transgenic mice elicits striking developmental abnormalities in the epidermis and hair follicles.
Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
research Hedgehog signaling reprograms hair follicle niche fibroblasts to a hyper-activated state
Overactivating Hedgehog signaling makes hair follicle cells in mice grow hair faster and create more follicles.
research Lipid droplets and associated proteins in sebocytes
Sebum from sebocytes is important for skin health and linked to conditions like acne and hair loss.
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.
research Anterior neck fat deposition in lipodystrophy syndrome; a new variant on a theme?
A new form of lipodystrophy in HIV patients causes neck fat buildup.
research Serum levels of lead and selenium in patients with premature graying of the hair
Lead and selenium levels don't cause premature graying.
research Polycystic Ovary Syndrome and Inflammation
Polycystic ovary syndrome causes chronic inflammation affecting all body systems, but proper nutrition, exercise, and supplements can improve the condition.
research A preview of selected articles
The document concludes that DNA methylation and the mTOR pathway are important for stem cell function and could impact disease treatment.
research Paraoxonase Enzyme Activity and Determination of Phenotypic Polymorphism in Patients with Acne Vulgaris
Acne patients have lower enzyme activity, suggesting oxidative stress may contribute to acne.
research 1350 The role of mitochondria in skin aging
Mitochondrial dysfunction contributes to skin aging and hair loss.
research AXR3andSHY2interact to regulate root hair development
AXR3 and SHY2 genes control the growth and timing of root hair development in plants.
research Gene Expression During Drosophila Wing Morphogenesis and Differentiation
Key genes are crucial for Drosophila wing development and could be insecticide targets.
research Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes
Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Physical inactivity is a disease synonymous for a non-permissive brain disorder
Physical inactivity is a primary cause of many human illnesses.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Selenoproteins Are Essential for Proper Keratinocyte Function and Skin Development
Selenoproteins are crucial for healthy skin and hair.
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.