research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
Search
for
Sort by
Research
60-90 / 1000+ results 
research Human and Animal Cells Under Influence of Different Lighting and Stimuli
Different light affects cell functions and can help treat skin conditions.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Australian Hair and Wool Research Society Cutaneous Biology and Endocrinology Workshop
The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
research Discordant Phenotype in Monozygotic Twins with Mosaic Trisomy 12p in Lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Position Effect on FGF13 Associated with X-Linked Congenital Generalized Hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research Survival of Patchwork Melanoblasts Is Dependent Upon Their Number in the Hair Follicle at the End of Embryogenesis
More melanoblasts in hair follicles mean better survival and proper hair pigmentation.
research The Mouse Hairy Ears Mutation Exhibits an Extended Growth (Anagen) Phase in Hair Follicles and Altered Hoxc Gene Expression in the Ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
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 Independent Genomewide Screens Identify the Tumor Suppressor VTRNA2-1 as a Human Epiallele Responsive to Periconceptional Environment
The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Trichohyalin-Like Proteins Have Evolutionarily Conserved Roles in the Morphogenesis of Skin Appendages
Trichohyalin-like proteins are essential for the development of skin structures like hair, nails, and feathers.
research Mammalian Keratin-Associated Proteins (KRTAPs) Subgenomes: Disentangling Hair Diversity and Adaptation to Terrestrial and Aquatic Environments
Different hair types in mammals are linked to variations in specific protein genes, with changes influenced by their living environments.
research Transcriptome Profile at Different Physiological Stages Reveals Potential Mechanism for Curly Fleece in Chinese Tan Sheep
Genetic differences between young and old Tan sheep explain why their fleece changes from curly to straight as they age.
research Disruption of Tubular Flcn Expression as a Mouse Model for Renal Tumor Induction
Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research TGF-β2 and Collagen Play Pivotal Roles in the Spheroid Formation and Anti-Aging of Human Dermal Papilla Cells
Collagen and TGF-β2 help maintain hair cell shape and youthfulness.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing Within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
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 Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Evolution And Genetic Architecture Of Sex-Limited Polymorphism In Cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
research Abstracts from the 4th Annual Student Medical Summit
The document concludes that more research is needed to reduce frequent hospital visits, addiction medicine education improves with specific training, early breast cancer surgery findings are emerging, nipple smears are not very accurate, surgery for older melanoma patients doesn't extend life, a genetic condition in infants can often be treated with one drug, doctors are inconsistent with blood clot medication, a certain gene may protect against cell damage, muscle gene overexpression affects many other genes, and some mitochondrial genes are less active in mice with tumors.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Dynamics and Epigenetics of the Epidermal Differentiation Complex
Epigenetic mechanisms control skin development by regulating gene expression.
research BUZZ: An Essential Gene for Postinitiation Root Hair Growth and a Mediator of Root Architecture in Brachypodium Distachyon
The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
research Updates to Male Infertility: AUA/ASRM Guideline 2024
The 2024 guideline updates recommendations for genetic testing, imaging, and sperm retrieval in male infertility.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Extraskeletal Actions of Vitamin D
Vitamin D has potential benefits for cancer prevention, heart health, diabetes, obesity, muscle function, skin health, and immune function, but clinical results are mixed and more research is needed.