research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family
The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
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180-210 / 1000+ results research From structural resilience to cell specification — Intermediate filaments as regulators of cell fate
Intermediate filaments are crucial for cell differentiation and stem cell function.
research Molecular Genetics of Alopecias
Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
research The Human Type II Keratin Gene Cluster on Chromosome 12q13.13: Final Count or Hidden Secrets?
The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Keratin function and regulation in tissue homeostasis and pathogenesis
Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
research Alopecia in children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
A gene variant causes a skin and hair disorder by disrupting protein balance.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
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 Recent Advances in Genome-Editing Technology with CRISPR/Cas9 Variants and Stimuli-Responsive Targeting Approaches within Tumor Cells: A Future Perspective of Cancer Management
New CRISPR/Cas9 variants and nanotechnology-based delivery methods are improving cancer treatment, but choosing the best variant and overcoming certain limitations remain challenges.
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 Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Evaluation of hair surface structure and morphology of patients with lichen planopilaris (LPP) by atomic force microscopy (AFM)
AFM can help diagnose lichen planopilaris by identifying specific hair structure changes.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Skin Structure, Physiology, and Pathology in Topical and Transdermal Drug Delivery
Improving drug delivery through the skin requires understanding skin and using enhancers.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Qualitative investigation of fresh human scalp hair with full-field optical coherence tomography
Melanin density affects hair color, and this method can help in cosmetic assessments and diagnosing hair diseases.
research Alterations in Hair Follicle Morphology and Hair Shaft Production After Follicular Unit Transplantation
Hair transplants can make hair follicles larger and hair shafts thicker.
research Transcriptome Profiling of Human Follicle Dermal Papilla Cells in response to Porphyra-334 Treatment by RNA-Seq
Porphyra-334 may help reduce wrinkles and promote hair growth.
research A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice
Scientists found a gene in mice that causes early hearing loss.
research Gender aspects in skin diseases
Men are more likely to get infectious skin diseases, while women are more prone to autoimmune and pigment-related skin conditions, influenced by biological and environmental factors.
research Depth and Patterns of Adnexal Involvement in Primary Extramammary (Anogenital) Paget Disease: A Study of 178 Lesions From 146 Patients
Extramammary Paget disease can spread deeply into tissues, reaching up to 3.6 mm.
research Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris
New genetic factors linked to acne risk were discovered, highlighting the role of certain pathways and genes.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Pruritic Trichostasis Spinulosa: A Rare Variant
A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
research Trichofolliculoma: a rare variant of hair follicle hamartoma
Trichofolliculoma is a rare skin bump on the face or scalp.