research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
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research New fluorogenic probes for neutral and alkaline ceramidases
New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
research 3P's (Pharmacokinetic, Pharmacodynamic, and Pharmacogenomic) of Valproate: What's New?
New information shows Valproate may protect the brain and reduce breathing failure risk but can cause liver damage and other side effects, with genetics affecting dosage needs.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research The interaction of CaM7 and CNGC14 regulates root hair growth inArabidopsis
CaM7 and CNGC14 interaction controls root hair growth in Arabidopsis.
research Ca 2+ -mediated protein citrullination regulates proliferation in the regenerating and malignant CNS
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
research Cyproterone acetate for hirsutism
Cyproterone acetate works similarly to other treatments for hirsutism, but more research is needed.
research Polygenic risk score predicting susceptibility and outcome of benign prostatic hyperplasia in the Han Chinese
A higher genetic risk score increases the chance of getting benign prostatic hyperplasia and affects treatment outcomes in Han Chinese men.
research Fe de errores
The document corrects a mistake by stating that pimecrolimus, not tacrolimus, is the drug that concentrates in the skin.
research 11 Treatment of hirsutism and acne with cyproterone acetate
Cyproterone acetate is effective for treating hirsutism and acne but less so for hair loss, with side effects similar to birth control pills.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Phenolsulphotransferase: localization in kidney during human embryonic and fetal development
The enzyme PST is found in developing human kidneys and helps with detoxification and development.
research A new START
PDF2 senses specific lipids and regulates root growth and gene expression in Arabidopsis.
research Expression and Analysis of TBX3 Gene in the Skin from Three Locations on Dun Mongolian Bider Horse
TBX3 gene affects horse coat color, with higher expression in darker areas.
research Gene expression profiling analysis reveals fur development in rex rabbits (Oryctolagus cuniculus)
Gene expression affects fur development in rex rabbits.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research Synthesis and 5α-Reductase Inhibitory Activity of C21 Steroids Having 1,4-diene or 4,6-diene 20-ones and 4-Azasteroid 20-Oximes
Three specific 4-azasteroid-2-oximes showed strong enzyme inhibition, but less than finasteride.
research Arabidopsis CNGC14 Mediates Calcium Influx Required for Tip Growth in Root Hairs
CNGC14 is crucial for calcium entry needed for root hair growth in plants.
research CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research Cyclin‐dependent kinase 4 expression alters the number of keratinocyte stem cells in the mouse hair follicle
Changing CDK4 levels affects the number of stem cells in mouse hair follicles.
research Alkaline Phosphatase–Regulated C–C Motif Chemokine Ligand 5 (CCL5) Functions as a Critical Mediator of Hair Follicle Neogenesis
research Association between PITX2 polymorphism and androgenetic alopecia in the Indian population
Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
research Cytologic atypia in a 53-year-old man with finasteride-induced gynecomastia.
research Association of methionine synthase gene polymorphisms with wool production and quality traits in Chinese Merino population12
The MTR gene affects wool quality and production in Chinese Merino sheep.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research 411 THE POTENTIAL OF CIRCULATING ENDOTHELIAL CELLS AS PROGNOSTIC BIOMARKERS IN PROSTATE CANCER
CEC levels may be a useful marker for predicting prostate cancer progression.
research Screening of Sheep Fibroblast Cell Line with the Spider Dragline Silk Protein Gene
Sheep cells were successfully modified to include a spider silk protein gene.
research 237 Unveiling Skin Cancers Pathophysiology via the Modeling of Xeroderma Pigmentosum Disease Modeling Using CRISPR-Cas9 Technology
Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.