research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
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research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women
Certain gene variations may increase the risk of PCOS in South Indian women.
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 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 Genetic deletion of TNFα inhibits ultraviolet radiation-induced development of cutaneous squamous cell carcinomas in PKCε transgenic mice via inhibition of cell survival signals
Deleting TNFα gene reduces skin cancer risk in certain mice.
research Rare and common genetic determinants of metabolic individuality and their effects on human health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Hair Shaft Videodermoscopy in Netherton Syndrome
Trichoscopy can diagnose Netherton syndrome without pulling hairs.
research Enrichment and Characterization of Human Dermal Stem/Progenitor Cells by Intracellular Granularity
Scientists identified a unique type of human skin stem cell that could help with tissue repair.
research Inhibition of the development of metastatic squamous cell carcinoma in protein kinase C epsilon transgenic mice by alpha-difluoromethylornithine accompanied by marked hair follicle degeneration and hair loss.
Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
research Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis
HLA-DRB5 and other genes may be linked to alopecia universalis.
research Genomic prediction and genome-wide association studies of morphological traits and distraction index in Korean Sapsaree dogs
Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.
research 130 Dermal IgA deposition targeted against Transglutaminase 3 in Dermatitis herpetiformis risk groups
Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
research 412 DETECTION OF CIRCULATING PROSTATE CANCER CELLS BY MEANS OF AN ANTIBODY-CONJUGATED NANOPARTICULAR BIOSENSOR
The document concludes that a new biosensor can efficiently detect prostate cancer cells and that standardized referrals help find significant cancers effectively.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research Identification of Potential Biomarkers for Diagnosis of Patients with Methamphetamine Use Disorder
Gene expression in hair follicles can help diagnose methamphetamine use disorder.
research Devices and genomic therapies
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research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Dynamic Trichoscopy
Trichoscopy is useful for diagnosing and monitoring hair and scalp conditions over time.
research sc-eQTL unveil immunogenetic architecture of polycystic ovary syndrome
PCOS involves immune and genetic factors, with key roles for T cells and specific genes.
research The use of diphencyprone in dermatology: A retospective audit
Diphencyprone treatment protocols could be simplified as no harm occurred despite not fully following them.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Discovery of genes and proteins possibly regulating mean wool fibre diameter using cDNA microarray and proteomic approaches
Researchers identified genes and proteins that may influence wool thickness in sheep.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Contrast enhanced phototrichogram pinpoints scalp hair changes in androgen sensitive areas of male androgenetic alopecia
CE-PTG detects early hair follicle issues in balding areas, helping measure male hair loss.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases
research 837 Micro-regional transcriptome reveals local dermal-epidermal intercorrelation in atopic dermatitis
Atopic dermatitis shows a link between skin layers in inflammation, detectable with detailed gene analysis.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.