research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
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research The disrupted balance between hair follicles and sebaceous glands inHoxc13‐ablated rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Characterization of X-Linked SNP genotypic variation in globally distributed human populations
The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
research Effects on Steroid 5-Alpha Reductase Gene Expression of Thai Rice Bran Extracts and Molecular Dynamics Study on SRD5A2
Thai rice bran extracts, especially from Tubtim Chumphae rice, can significantly reduce the activity of hair loss genes, with x-tocopherol showing potential as an anti-hair loss product.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research The Role of EAAT4 in Epidermal Differentiation and Calcium Homeostasis during Aging
EAAT4 decreases with age, harming skin function and calcium balance.
research The RAIG Family Member, GPRC5D, Is Associated with Hard-Keratinized Structures
GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Minireview: vitamin D receptor: new assignments for an already busy receptor. - eScholarship
The vitamin D receptor has many roles in the body beyond managing calcium, affecting the immune system, hair growth, muscles, fat, bone marrow, and cancer cells.
research The first broad replication study of SNPs and a pilot genome‐wide association study for androgenetic alopecia in Asian populations
Two specific genetic markers increase the risk of hair loss in Asian populations.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research Evidence for two independent functional variants for androgenetic alopecia around the androgen receptor gene
Two gene areas linked to male pattern baldness found, more research needed.
research Editor's evaluation: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
research Genome wide association analysis of root hair traits in rice reveals novel genomic regions controlling epidermal cell differentiation
Scientists found new genetic areas that affect how rice root hairs grow and develop.
research Alopecia Areata following Adalimumab
A woman developed hair loss after starting a treatment with adalimumab, suggesting this medication might cause hair loss.
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 Roles of steroid sulfatase in brain and other tissues
Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
research Epidermal Growth Factor Receptor Regulates Skin Nerve Outgrowth and Branching
EGFR is essential for organized skin nerve growth and branching.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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 Localization of Epidermal Growth Factor Immunoreactivity in Sheep Skin During Wool Follicle Development
research The inconsistent regulation of HOXC13 on different keratins and the regulation mechanism on HOXC13 in cashmere goat (Capra hircus)
The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
research KRT17: A Key Driver of Cancer Therapy Resistance and Emerging Therapeutic Target
Targeting Keratin 17 may help overcome cancer therapy resistance.
research O04 HPV8 E6 leads to Lrig1+ keratinocyte stem cell expansion
HPV8 E6 gene causes growth of certain skin stem cells.
research Genomic Characterization of Quality Wool Traits in Spanish Merino Sheep
Key genes linked to wool quality in Spanish Merino sheep can improve fine wool production.
research Oxidative Activity of the Type 2 Isozyme of 17β-Hydroxysteroid Dehydrogenase (17β-HSD) Predominates in Human Sebaceous Glands
The enzyme 17β-HSD type 2 mainly performs oxidation in human sebaceous glands, which may help protect against acne.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.