research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
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30 / 81 results research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research The 532 Nm Laser Treatment Promotes the Proliferation of Tendon- Derived Stem Cells and Up-Regulates Nr4a1 to Stimulate Tenogenic Differentiation
A 532 nm laser at 15 J/cm2 speeds up tendon healing by increasing tendon stem cell growth and tendon-related gene activity.
research The 532 nm Laser Treatment Promotes The Proliferation of Tendon-Derived Stem Cells and Up-Regulates Nr4a1 To Stimulate Tenogenic Differentiation
A 532 nm laser helps tendon stem cells grow and become tendon-like by increasing Nr4a1 activity, which may speed up tendon repair.
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 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 Human Fetal Scalp Dermal Papilla Enriched Genes and the Role of R-Spondin-1 in the Restoration of Hair Neogenesis in Adult Mouse Cells
Certain genes are more active in baby scalp cells and can help grow hair when added to adult mouse skin cells.
research Comparative Gene Expression Profiling of Senescent and Androgenetic Alopecia Using Microarray Analysis
SA linked to mitochondrial issues and oxidative stress, while AGA involves disrupted hair growth genes.
research Transcriptome sequencing reveals the key genes associated with hair follicle development in Qianhua Mutton Merino
Key genes like KRT27 and IGF-2 are crucial for hair follicle development in Qianhua Mutton Merino sheep.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Large Scale Gene Expression Profiles of Regenerating Inner Ear Sensory Epithelia
Birds can regenerate inner ear cells using specific gene pathways, unlike mammals.
research Generating detailed intercellular communication patterns in psoriasis at the single-cell level using social networking, pattern recognition, and manifold learning methods to optimize treatment strategies
New insights into cell communication in psoriasis suggest innovative drug treatments.
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
research Compilation of a comprehensive gene panel for systematic assessment of genes that govern an individual’s drug responses
Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
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 The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Basics of androgen synthesis and action
Androgens like testosterone are important hormones for both men and women, made differently in each sex and affecting the body by regulating genes and quick interactions with cell components.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Comparative study on seasonal hair follicle cycling by analysis of the transcriptomes from cashmere and milk goats
Cashmere and milk goats have different hair growth cycles and gene expressions, which could help improve wool production.
research Transcriptomic analysis of human skin wound healing and rejuvenation following ablative fractional laser treatment
Ablative fractional laser treatment rejuvenates skin by altering gene expression and promoting wound healing and tissue regeneration.
research Skin transcriptome reveals the intrinsic molecular mechanisms underlying hair follicle cycling in Cashmere goats under natural and shortened photoperiod conditions
Changing light exposure can affect hair growth timing in goats, possibly due to a key gene, CSDC2.
research Identifying molecular targets for reverse aging using integrated network analysis of transcriptomic and epigenomic changes during aging
Curcumin may help reverse aging by targeting specific genes.
research Identification of Functional Patterns of Androgenetic Alopecia Using Transcriptome Profiling in Distinct Locations of Hair Follicles
AGA linked to inflammation, stress, fibrosis, and disturbed hair follicle stem cells.
research Class IIa HDAC4 and HDAC7 cooperatively regulate gene transcription in Th17 cell differentiation
HDAC4 and HDAC7 are crucial for Th17 cell development and could be targeted to treat inflammatory diseases.
research In Silico Promoter Motif Analysis of Human Fertility-Related Genes
The study found potential new DNA patterns in fertility genes, but further testing is needed.
research Testicular Steroidogenesis
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Prevention of Male Late-Onset Hypogonadism by Natural Polyphenolic Antioxidants
Natural antioxidants like flavonoids and resveratrol may help prevent low testosterone in aging men.
research Progress on genome-wide association studies and selection signature analysis for agronomic traits in Chinese sheep and goats: review
Key genes linked to important traits in Chinese sheep and goats have been identified, but challenges remain in breeding improvements.
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.