research Structure of human type II 5 alpha-reductase gene.
The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
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research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Phenomenology of polymorphism: The topological pressure–temperature phase relationships of the dimorphism of finasteride
Finasteride's two forms have different stability based on temperature and pressure.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle
The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research A cDNA encoding the human type I hair keratin hHa1
hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
research Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis
Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.
research β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
Mutations in β1 integrins cause embryonic death but have milder effects on skin.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Structure and site of expression of a murine type II hair keratin
A specific type II hair keratin was identified and found in hair cortex and tongue cells.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Antihormonal properties of some new A-homo-B, 19-dinor steroids of the androstane series
New A-homo-B, 19-dinor steroids showed strong antiandrogenic activity without affecting the enzyme 5α-reductase or androgen receptor binding.
research Human keratin hydrogels support fibroblast attachment and proliferation in vitro
research Both Retinoic Acid Receptors α (RARα) and γ (RARγ) Are Able to Initiate Mouse Upper-Lip Skin Glandular Metaplasia
research Parallels in signaling between development and regeneration in ectodermal organs
research Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13
research De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
research Unique Tumor Heterogeneity Within a Single Locally Advanced Basal Cell Carcinoma Resulting in Partial Response Despite Continuous Vismodegib Treatment
Different tumor cells in one basal cell carcinoma can cause mixed treatment responses, suggesting personalized treatment is needed.
research QSAR Analysis of a Series of Hydantoin‐based Androgen Receptor Modulators and Corresponding Binding Affinities
Researchers developed reliable models to predict how well certain compounds bind to androgen receptors, emphasizing the importance of atomic electronegativity.
research Carbon-13 n.m.r. studies of keratin intermediate filament of human hair
Human hair keratin has a 40% α-helix structure that changes to a random coil in 8 M urea.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research The atypical ‘hippocampal’ glutamate receptor coupled to phospholipase D that controls stretch‐sensitivity in primary mechanosensory nerve endings is homomeric purely metabotropic GluK2
A special receptor in sensory nerve endings helps control how they respond to stretching.
research Differential effects of dehydroepiandrosterone (DHEA) between mouse and human melanoma cell lines
DHEA inhibits growth in both mouse and human melanoma cells but works differently in each.
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 Diversity of human skin three-dimensional organotypic cultures
research Dynamics and Epigenetics of the Epidermal Differentiation Complex
Epigenetic mechanisms control skin development by regulating gene expression.
research Further errors in polymorph identification: furosemide and finasteride
Errors found in identifying furosemide and finasteride polymorphs due to incomplete data.