research Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
C-scores can help predict gain-of-function and loss-of-function mutations.
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research Acitretin-Induced Repigmentation of Gray Hair: A Case Report
Acitretin treatment unexpectedly darkened a patient's gray hair.
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Clear cell variant of eccrine porocarcinoma of the hand: A case report
A 90-year-old woman's hand lesion was a rare, aggressive skin cancer treated successfully with surgery.
research Circumferential acute limited exanthematous pustulosis
A 16-year-old girl's skin rash was likely caused by an infection and improved with topical steroids.
research Classic Sweet sydrome: A case report
A 54-year-old man with painful skin blisters and fever was diagnosed with Sweet syndrome and successfully treated with corticosteroids.
research Novel Drugs Targeting Retinoic Acid Receptors
Newer retinoid drugs are effective for skin conditions but have significant side effects.
research 892 Behavior of the two circulating androgens testosterone and DHEA and their main intracellular metabolites in an androgen-sensitive sebocyte cell line
Testosterone affects androgen receptors and lipid storage in cells, while DHEA does not convert to testosterone or affect these receptors in the same way.
research 890 Development of pigmented reconstructed human epidermis model containing human melanoblasts from keratinocyte culture
The created skin model with melanoblasts improves the study of skin color and offers an alternative to animal testing.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research Management of hidradenitis suppurativa
Effective treatment for hidradenitis suppurativa varies, with antibiotics commonly used and surgery as an option, but no single method is universally successful.
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 Dermatological manifestations and associated factors in patients with Graves\' disease in Dakar
Graves' disease often causes skin issues, especially hyperpigmentation, which may be linked to treatments.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research The role of leptin in selected skin diseases
Leptin affects skin and hair health and may worsen some skin conditions, but more research is needed to understand its full impact.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Biology of the skin and dermatological disease
Knowing how skin works and its diseases helps doctors diagnose and treat skin conditions better.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research KERATINS AND SKIN DISORDERS
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
research Common Topical Medications
The document concludes that various topical medications are effective for skin conditions but often cause skin irritation as a side effect.
research Retinoids
Retinoids are effective for skin conditions like severe acne and psoriasis but must be used with caution due to potential side effects and risks during pregnancy.
research The human keratins: biology and pathology
Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
research Towards a molecular understanding of hair loss and its treatment
Future hair loss treatments should aim to extend hair growth, reactivate resting follicles, reverse shrinkage, and possibly create new follicles, with gene therapy showing promise.
research TRP Channels in Skin Biology and Pathophysiology
TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.