research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
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90-120 / 1000+ results research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals
The study found that in Latin America, ancestry varies by location, influences physical traits, and affects how people perceive their own heritage.
research Sic Transit Gloria: Farewell to the Epidermal Transit Amplifying Cell?
New research suggests that skin cell renewal may not require a special type of cell previously thought to be essential.
research Basal Cell Carcinoma, Hedgehog Signaling, and Targeted Therapeutics: The Long and Winding Road
New treatments targeting the Hedgehog pathway can help treat advanced skin cancer but may have side effects and their effectiveness in early stages is unknown.
research Periorbital rejuvenation
New techniques can effectively treat aging around the eyes.
research Vitiligo and alopecia areata: apples and oranges?
Vitiligo and alopecia areata may have similar causes despite their differences.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Wound repair at a glance
Wound healing is a complex, multi-phase process involving various cells and activities to repair skin damage.
research Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research An Updated Nomenclature for Keratin-Associated Proteins (KAPs)
The document introduced a new naming system for keratin-associated proteins to improve clarity and communication across species.
research Immune-Molecular Link between Thyroid and Skin Autoimmune Diseases: A Narrative Review
Thyroid and skin autoimmune diseases share genetic and immune links, affecting both tissues.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research A Comprehensive Review of GWASs of Human Hair Traits
Genetic studies on hair traits can improve understanding of health and disease.
research Alopecia Areata: Understanding the Pathophysiology and Advancements in Treatment Modalities
Alopecia Areata causes hair loss and needs treatments that address both physical and emotional health.
research The role of aquaporins in polycystic ovary syndrome – A way towards a novel drug target in PCOS
Aquaporins could be new drug targets for treating polycystic ovary syndrome.
research Development of the Alopecia Areata Patient Priority Outcomes Instrument: A Qualitative Study
Researchers created a new tool to measure the effects of alopecia areata from the patient's view, focusing on hair loss, daily life, and emotional health.
research Male androgenetic alopecia
Hair loss in men treated best with early medication or transplant, new treatments researched.
research Aging of hair
Hair ages due to genetics and environmental factors, leading to graying and thinning, with treatments available for some conditions.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Scalp photodamage in balding men: An observational study combining a novel clinical scoring method with estimation of individual sun exposure history and risk factors
The study concluded that a new method can effectively assess scalp sun damage in balding men, which increases with age and sun exposure.
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 Chapter 23. Therapeutic Control of Androgen Action
Understanding how androgens work is key for creating new treatments for prostate issues and hair/skin conditions.
research Physiological Regeneration of Skin Appendages and Implications for Regenerative Medicine
The document concludes that understanding hair and feather regeneration can help develop new regenerative medicine strategies.
research Tp63-expressing adult epithelial stem cells cross lineages boundaries revealing latent hairy skin competence
Adult stem cells with Tp63 can form hair and skin cells when placed in new skin, showing they have hidden abilities for skin repair.
research Aberrant inflammasome activation as a driving force of human autoimmune skin disease
Faulty inflammasome activation may lead to autoimmune skin diseases and could be a target for new treatments.