research A Comprehensive Review of Mammalian Pigmentation: Paving the Way for Innovative Hair Colour-Changing Cosmetics
Innovative cosmetics could safely change hair color by targeting biological hair pigmentation processes.
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270-300 / 1000+ resultsresearch A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Editorial: Crosstalk: skin cells and immune cells in inflammatory skin diseases
Targeting specific biomarkers and immune signals is more effective and safer for treating inflammatory skin diseases.
research WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research Application of multi-omics techniques to androgenetic alopecia: Current status and perspectives
Multi-omics techniques help understand the molecular causes of androgenetic alopecia.
research Epigenetic and transcriptional profiling of secondary hair follicle stem cells during cashmere growth
Chromatin state changes in hair follicle stem cells can improve cashmere growth.
research Przewidywanie cech wyglądu człowieka na podstawie markerów DNA do celów medyczno-sądowych i kryminalistycznych
DNA markers can predict physical traits for forensic use, but there are ethical and technical challenges.
research Insulin resistance as risk factor for the development of type 2 diabetes mellitus: a systematic approach
Insulin resistance increases the risk of developing type 2 diabetes and other health issues.
research Uloga folikularnih matičnih stanica u patofiziologiji alopecije areate
Alopecia areata is reversible because hair follicles can regenerate due to stem cells.
research Transforming 300 billion points of data into diagnostics, therapeutics and new insights into disease
Large data can lead to new medical discoveries and personalized medicine.
research Pathway enrichment and network analysis of differentially expressed genes in pashmina goat
The analysis found genes linked to skin and hair development are more active in Pashmina goats, which may explain their long-fiber production.
research Lichen Planopilaris and Frontal Fibrosing Alopecia as Model Epithelial Stem Cell Diseases
Lichen Planopilaris and Frontal Fibrosing Alopecia may help us understand hair follicle stem cell disorders and suggest new treatments.
research The Biology and Genomics of Human Hair Follicles: A Focus on Androgenetic Alopecia
Hair loss in Androgenetic Alopecia is caused by genetics, aging, and lifestyle, leading to hair follicle shrinkage and related health risks.
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 Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Deletion of an Enhancer in FGF5 is Associated With Ectopic Expression in Goat Hair Follicles and the Cashmere Growth Phenotype
A genetic variant in goats is linked to cashmere growth.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Inherited Disorders of the Hair
The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.