research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
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research Videodermoscopy Evaluation in Non-Scarring Alopecia of Scalp
Videodermoscopy is effective for diagnosing different types of non-scarring hair loss.
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 Dissecting Fibroblast Heterogeneity in Health and Fibrotic Disease
Different types of fibroblasts play various roles in both healthy and diseased tissues, and understanding them better could improve treatments for fibrotic diseases.
research A Powerful Method for Pleiotropic Analysis Under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
research Convergent Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
research Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Genetics of Hidradenitis Suppurativa
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Fibroblast Heterogeneity: Implications for Human Disease
Different types of fibroblasts play various roles in diseases and healing, and more research on them could improve treatments.
research Fibrodysplasia Ossificans Progressiva: A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
Thiopurines help treat IBD but require genetic testing to avoid side effects.
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 The Developmental Basis of Fingerprint Pattern Formation and Variation
Fingerprints form uniquely before birth due to specific genetic pathways and local signals.
research Molecular Regulatory Mechanisms in Chicken Feather Follicle Morphogenesis
The document concludes that various signaling pathways and genetic factors are crucial for chicken feather development, affecting poultry quality.
research Male Androgenetic Alopecia
Hair loss in men treated best with early medication or transplant, new treatments researched.
research Monilethrix in Pattern Distribution in Siblings: Diagnosis by Trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
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 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 Discovery of Genes and Proteins Possibly Regulating Mean Wool Fibre Diameter Using cDNA Microarray and Proteomic Approaches
Researchers identified genes and proteins that may influence wool thickness in sheep.
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 APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
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 Production of Mannosylerythritol Lipids and Their Application in Cosmetics
Mannosylerythritol lipids are good for skin and hair care products.
research Comparison of Healthy and Dandruff Scalp Microbiome Reveals the Role of Commensals in Scalp Health
Certain bacteria and fungi are linked to healthy scalps and dandruff, suggesting that the scalp's microbial balance affects its health.
research Polycystic Ovary Syndrome: Insight Into Pathogenesis and a Common Association With Insulin Resistance
PCOS is often linked to insulin resistance and obesity, and weight loss can improve symptoms.
research The Human Skin Microbiome in Selected Cutaneous Diseases
Changes in skin microbes play a role in some skin diseases and could lead to new treatments.
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.