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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 Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair
KRTAP genes evolved early in mammals, leading to diverse hair traits.
research Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
research Proteolysis‐Targeting Chimera (PROTAC): Current Applications and Future Directions
PROTACs offer new ways to treat hard-to-target diseases, with promising drugs for cancer in advanced trials.
research Targeting telomeric RNA quadruplexes with natural metabolites to prevent cancer
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research ULBP3: a marker for alopecia areata incognita
ULBP3 could be a marker for diagnosing alopecia areata incognita and may be linked to its cause and development.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
research Characterization of Primary Cilia and Intraflagellar Transport 20 in the Epidermis
Ift20 is essential for hair follicle function and skin cell movement.
research Safety and efficacy of advanced and targeted acid α-glucosidase (AT-GAA) (ATB200/AT2221) in ERT-switch nonambulatory patients with Pompe disease: preliminary results from the ATB200-02 trial
The combination of tadalafil and finasteride improves urinary symptoms and erectile function in men with enlarged prostates.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with AIRE gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib
Ruxolitinib helped a patient with alopecia areata regrow hair.
research 555 Dermal single-cell atlas: a novel tool to explore fibroblast heterogeneity
A new tool helps study hair follicle cells to develop better treatments for hair disorders.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study
The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
research MitoQ upregulates CYP19A1 to protect dermal papilla cells from DHT-induced mitochondrial dysfunction and apoptosis in androgenetic alopecia
MitoQ helps protect hair cells from damage in hair loss by boosting a protective enzyme.
research Observations that suggest a contribution of altered dermal papilla mitochondrial function to androgenetic alopecia
Hair loss in men might be linked to changes in cell energy factories.
research Proliferation, DNA repair and apoptosis in androgenetic alopecia
Bald areas have lower cell growth, more DNA damage, and increased cell death.
research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
The KRTAP21-1 gene affects wool yield and can help improve wool production.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Cloning and Expression of Cellular Retinoic Acid Binding Protein I Gene in Inner Mongolian Cashmere Goats
The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
research 1385 Characterizing the expression of metabolic markers in alopecia areata
The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
research A second KRT 71 allele in curly coated dogs
A new gene variant causes curly coats in some dog breeds.
research Protein and amino acid composition of hair from mice carrying the naked (N) gene
The N gene affects the protein makeup of mouse hair.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research Label-Free Automated Cell Tracking: Analysis of the Role of E-cadherin Expression in Collective Electrotaxis
E-cadherin is important for cell movement in electric fields, and the new tracking method works well.