research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
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research Dysregulation of Grainyhead-Like 3 Expression Causes Widespread Developmental Defects
Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
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 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.
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 Advances in Hair Diseases
The review highlights the importance of stem cells in hair health and suggests new treatment strategies for hair loss conditions.
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 The Androgen Excess and PCOS Society Criteria for the Polycystic Ovary Syndrome: The Complete Task Force Report
The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
research Polycystic Ovary Syndrome and Its Impact on Health
PCOS affects women's health by increasing the risk of diabetes, heart disease, and reproductive issues.
research Androgen Receptors And Their Biology
Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
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 Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Trichoscopy in Hair Shaft Disorders
Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
research WNT10A, Dermatology and Dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Light Microscopy of the Hair: A Simple Tool to Untangle Hair Disorders
Light microscopy is useful for diagnosing different hair disorders.
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.
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 Prognosis and Management of Congenital Hair Shaft Disorders Without Fragility—Part II
Some congenital hair disorders improve with age and can be managed with treatments like minoxidil, retinoids, supplements, and gentle hair care, but there's no cure.
research Androgens and Hair: A Biological Paradox with Clinical Consequences
Androgens can both increase body hair and cause scalp hair loss.
research Hair Follicle Morphogenesis and Epidermal Homeostasis in We/We Wal/Wal Mice with Postnatal Alopecia
The we/we wal/wal mice have defects in hair growth and skin layer formation, causing hair loss, useful for understanding alopecia.
research Congenital Atrichia Associated with Situs Inversus and Mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research Analysis Of The Function Of ADAM17 In IRhom2 Curly-Bare And Tylosis With Esophageal Cancer Mutant Mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research AP-2α/AP-2β Transcription Factors Are Key Regulators of Epidermal Homeostasis
AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
research Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research The Relation Between Vitiligo and Other Autoimmune Disorders
Vitiligo is often found with other autoimmune diseases, which is important to know to help patients.
research Higher Androgen and Estrogen Output and Less Follicular Atresia Can Be Induced in Healthy Ovaries by Culturing Them with Sera from PCOS Patients: Is PCOS Really of Intraovarian Origin?
PCOS may be influenced by factors in the blood, not just the ovaries.
research Alopecia and Thyroid Disease
Thyroid disease can cause hair loss and treating thyroid problems might help with hair disorders.
research Polycystic Ovary Syndrome (PCOS) Trilogy: A Translational and Clinical Review
The document concludes that more multidisciplinary research is needed to understand and treat PCOS, a condition that significantly affects women's health and quality of life.