research Myotonic Dystrophy Type 1: Enhancing Patient Management Through Genetic and Multisystem Studies
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
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research Independent DSG4 Frameshift Variants in Cats with Hair Shaft Dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Follicle Hormones
Follicle Stimulating Hormone is important for fertility.
research Triptolide Shows Strong Efficacy and Safe Profile in Topical Treatment of Actinic Keratosis Lesions in UV-B-Induced Mouse Model
Triptolide effectively and safely reduces actinic keratosis lesions in mice.
research Influence of Bovine Milk Oligosaccharides on Sebocyte Lipid Content and Inflammatory Mediators
Cow milk sugars increase fat production and inflammation in skin oil cells.
research Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Molecular Network of Smads and Id2 Genes in Hair Follicle Stem Cells Regulation
The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
research Hair Follicle Bulb Developed as 3D Scaffold-Free Microtissue
Scientists created a tiny, 3D model of a hair follicle that grows and acts like a real one.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Ionizing Radiation Triggers Dedifferentiation of Outer Root Sheath Cells Into Stem Cell-Like Progenitors for Hair Follicle Regeneration
research A Study of the Androgen Receptor Gene Polymorphism and the Level of Expression of the Androgen Receptor in Androgenetic Alopecia Among Egyptians
The study suggests that a specific gene variation and higher gene activity are linked to increased baldness in Egyptian men.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Bone Morphogenetic Protein Signaling Regulates the Size of Hair Follicles and Modulates the Expression of Cell Cycle-Associated Genes
BMP signaling controls hair follicle size and cell growth by affecting cell cycle genes.
research New Insights Into Testosterone Biosynthesis: Novel Observations From HSD17B3 Deficient Mice
Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
research Selection Signatures for Fiber Production in Commercial Species: A Review
Genomic research can help improve the quality and production of natural fibers in animals.
research Intracrine Androgen Biosynthesis, Metabolism, and Action Revisited
The document concludes that blocking the internal pathways that create androgens might help treat cancers that depend on sex hormones.
research Genome-Wide Association Meta-Analysis of Individuals of European Ancestry Identifies New Loci Explaining a Substantial Fraction of Hair Color Variation and Heritability
New genetic locations explain much of hair color variation in Europeans.
research Role of FGFR2-Signaling in the Pathogenesis of Acne
Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
research Desmoglein 4 Is Regulated by Transcription Factors Implicated in Hair Shaft Differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research Acne: Transient Arrest in the Homeostatic Host–Microbiota Dialogue?
Acne is a temporary skin imbalance during puberty that often resolves on its own.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Fertility Counseling and Preservation: Considerations for the Pediatric Endocrinologist
Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Skin Transcriptome Profiling of Changthangi Goats Highlights the Relevance of Genes Involved in Pashmina Production
Changthangi goats have specific genes that help produce Pashmina wool.
research Androgen Receptor Copy Number Variation and Androgenetic Alopecia: A Case-Control Study
No clear link between androgen receptor variation and hair loss, but more research needed.