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.
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720-750 / 1000+ resultsresearch The enzyme and inhibitors of 4-ene-3-oxosteroid 5α-oxidoreductase
Inhibitors of the enzyme 5 alpha-reductase could potentially treat disorders like prostate cancer and baldness.
research 882 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 Association of AR rs6152G/A gene polymorphism with susceptibility to polycystic ovary syndrome in Chinese women
A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Armadillo Repeat Only Proteins Are Crucial for the Function of Plant CNGC Channels
Armadillo Repeat Only proteins are essential for proper plant growth and response by regulating calcium channels.
research DYS459, DYS391, DYS388 and DYS19 genetic loci have high allelic frequency in patients with prostate cancer
Certain genetic markers may increase or decrease prostate cancer risk.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Deletion analysis of AGD1 reveals domains crucial for its plasma membrane recruitment and function in root hair polarity
AGD1's PH domain is essential for its role in root hair growth and polarity.
research Mast cell-5-HT-HTR2A axis involvement in chronic itch induced by SADBE
Targeting the MC-5-HT-HTR2A axis may help treat chronic itching.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research 5α‐Reductase Inhibitors
5-Alpha reductase inhibitors help treat enlarged prostate but may cause sexual side effects.
research Male pattern hair loss - rh79g
research Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
research Identification of Metabolites for the Novel 5α‐Reductase Inhibitor Epristeride In Vitro and Its Potential Impact on Doping Testing
Epristeride's metabolism involves key metabolites and proteins, affecting its use in doping tests.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research A Study of the Expression of Small Conductance Calcium-Activated Potassium Channels (SK1-3) in Sensory Endings of Muscle Spindles and Lanceolate Endings of Hair Follicles in the Rat
SK2 channels help control sensory signals in rat muscle spindles and hair follicles.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research EDA2R Is Associated with Androgenetic Alopecia
EDA2R gene linked to hair loss.
research 5ARI and PSA: open questions
5ARI treatment improves PSA test accuracy for prostate cancer diagnosis.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency.
Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research 5α-Reductase Type 1 Deficiency or Inhibition Predisposes to Insulin Resistance, Hepatic Steatosis, and Liver Fibrosis in Rodents
Lack of 5α-Reductase type 1 can lead to insulin resistance and liver problems.
research Risk of estrogen-driven malignancies in females on 5-alpha reductase inhibitors
research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.