research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
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research Pathophysiology and Nutritional Approaches in Polycystic Ovary Syndrome: A Comprehensive Review
Eating a Mediterranean diet and taking certain supplements may improve symptoms of PCOS.
research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Rare Clinical Features of the Ellis Van Creveld Syndrome: A Case Report and Literature Review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Hair: More Than Just an Appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research Keratosis Follicularis Spinulosa Decalvans in a Family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Monilethrix: A Typical Case Report with Microscopic and Dermatoscopic Findings
A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
research Human Clinical Phenotype Associated With FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research Toxicity Assessment of the Green Dunaliella Salina Microalgae
Dunaliella salina microalgae is safe to eat and may boost health.
research Ichthyosis Linearis Circumflexa in a Child: Response to Narrowband UVB Therapy
Narrowband UVB therapy significantly improved a child's rare skin condition.
research A Missense Mutation in Lama3 Causes Androgen Alopecia
A gene mutation in Lama3 is linked to a common type of hair loss.
research Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures Due to Spermidine/Spermine N1-Acetyltransferase Overexpression
Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
research Overexpression of Smad7 Results in Severe Pathological Alterations in Multiple Epithelial Tissues
Too much Smad7 can cause serious changes in skin tissues, including problems with hair growth, thymus shrinkage, and eye development issues.
research Telomere Dynamics and Telomerase in the Biology of Hair Follicles and Their Stem Cells as a Model for Aging Research
Hair follicle studies suggest that maintaining telomere length could help treat hair loss and graying, but it's uncertain if mouse results apply to humans.
research Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Androgens and Hair: A Biological Paradox with Clinical Consequences
Androgens can both increase body hair and cause scalp hair loss.
research Non-Rash Skin Toxicities Associated with Novel Targeted Therapies
Early recognition and management of skin side effects from new cancer therapies can prevent treatment delays.
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 Acyl-CoA Binding Protein and Epidermal Barrier Function
ACBP is essential for healthy skin and fur by maintaining the skin's barrier function.
research Hair Sciences: An Interview with Dr. Rodney Sinclair on Female Pattern Hair Loss
Dr. Rodney Sinclair uses a detailed grading system to diagnose female pattern hair loss, recommends daily spironolactone and minoxidil for treatment, and believes genetics play a role in the condition.
research Pili Annulati with Fragility: Electron Microscopic Findings of a Case
The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.
research Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Dietary Glucoraphanin Prevents the Onset of Psychosis in Adult Offspring After Maternal Immune Activation
Eating glucoraphanin can help prevent psychosis in offspring whose mothers had immune system activation.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Wound Healing Impairment in Type 2 Diabetes Model of Leptin-Deficient Mice: A Mechanistic Systematic Review
Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.
research Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research The Hairless Gene of the Mouse: Relationship of Phenotypic Effects with Expression Profile and Genotype
Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Preclinical Pharmacology, Antitumor Activity, and Development of Pharmacodynamic Markers for the Novel, Potent AKT Inhibitor CCT128930
CCT128930 is a promising new drug that effectively targets and inhibits a cancer-related protein, showing potential for cancer treatment.