research Successful Use of Topical Minoxidil in the Treatment of Hypotrichosis Associated with Desmoplakin Mutations
Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.
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30 / 124 results research Novel Compound Heterozygous Mutations in the Desmoplakin Gene Cause Hair Shaft Abnormalities and Culminate in Lethal Cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research A Rare Case of Cardiocutaneous Syndrome in a Young Child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
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 The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Neuroendocrine Controls of Keratin Expression in Human Skin
Neurohormones help control skin health and could treat skin disorders.
research Hair and Nail Manifestations of Systemic Disease
Early baldness in men may indicate risks for obesity, metabolic syndrome, insulin resistance, and heart disease, similar to women with PCOS. Alopecia areata is often linked with autoimmune diseases and mental health issues. Certain hair disorders are due to genetic issues, and chemotherapy can cause hair loss through specific biological pathways. Iron deficiency's link to hair loss is still disputed.
research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Molecular Genetics of Alopecias
Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Trichodystrophies: A Hair-Raising Differential Diagnosis
The guide helps doctors diagnose hair problems by suggesting a thorough patient history, physical exams, and various diagnostic tools.
research Diffuse Partial Woolly Hair in a Patient with Epidermolysis Bullosa Simplex with Mottled Pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research A Scandinavian Case of Skin Fragility, Alopecia, and Cardiomyopathy Caused by DSP Mutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Using the Frog Embryonic Epidermis as a Model to Study Desmosome Function During Development
Frog skin cells need the protein desmoplakin for proper development and cell layer formation.
research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Beyond Expectations: The Role of Keratin Intermediate Filament Proteins in Epidermal Integrity
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Skin Keratins
Keratins are important for skin cell health and their problems can cause diseases.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Three-Dimensional Imaging of Tight Junction Network Across Multiple Layers of Human Epidermis by Array Tomography Using Backscattered Electron-Mode Scanning Electron Microscopy
The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.
research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.