research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
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research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Variant 1859G→A (Arg620Gln) of the Hairless Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research Analysis of Gene Expression Patterns and Levels in Maize Hybrids and Their Parents
Maize hybrids show better early growth due to complex gene interactions from their parent strains.
research Natural Course of Epidermolysis Bullosa Simplex with Mottled Pigmentation in a Japanese Family with the p.P25L Mutation in KRT5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Lack of Concordance and Linkage Disequilibrium Among Brothers for Androgenetic Alopecia and CAG/GGC Haplotypes of the Androgen Receptor Gene in Mexican Families
No clear link between specific gene and hair loss in Mexican brothers.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Monilethrix: A Case Report Imaged by Trichoscopy, Reflectance Confocal Microscopy, and Histopathology
Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
research Testosterone And Dihydrotestosterone Production In Genetically Furless And Furred Male Rabbits And Effects On Growth
Furless male rabbits grew slightly faster and heavier than furred ones, but testosterone levels were not the cause.
research Hypotrichosis and Hair Loss on the Occipital Scalp
A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research IL-17 Axis Is a Significant Driver of Skin Inflammation in CARD14 Mutant Pityriasis Rubra Pilaris Model Mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research Atrichia With Papular Lesions Confirmed Via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research Rothmund-Thomson Syndrome Type 2 – A Rare Cause of Chronic Wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research The Editor's Choice: Summary of Studies on Skin and Hair Conditions
UV radiation may cause DNA changes in skin, certain UVB therapy helps psoriasis, a new gene mutation is linked to mild piebaldism, different immune cells affect psoriasis, a drug promotes hair growth, and some cancer drugs could treat skin barrier issues.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Comparison of Comedolytic Effect of Benzoyl Peroxide and Adapalene in Rhino Mice
Benzoyl peroxide and adapalene gels work differently to reduce acne in mice.
research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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 Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
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 Nerve-Derived Sonic Hedgehog Defines a Niche for Hair Follicle Stem Cells Capable of Becoming Epidermal Stem Cells
Nerve signals are crucial for hair follicle stem cells to become skin stem cells and help in wound healing.
research National Lipid Association Recommendations for Patient-Centered Management of Dyslipidemia: Part 2
The guidelines suggest lifestyle changes, diet adjustments, and personalized medication to manage dyslipidemia and reduce heart disease risk.
research Single-Cell Analysis Reveals Fibroblast Heterogeneity and Myeloid-Derived Adipocyte Progenitors in Murine Skin Wounds
The research found that different types of fibroblasts are involved in wound healing and that some blood cells can turn into fat cells during this process.
research Aging and Immortality: Quasi-Programmed Senescence and Its Pharmacologic Inhibition
The conclusion is that using drugs to block the TOR pathway might slow aging and prevent age-related diseases.
research The Circadian Molecular Clock Creates Epidermal Stem Cell Heterogeneity
The circadian clock affects skin stem cell behavior, impacting aging and cancer risk.