research Identifying causal genes in alopecia areata using integrative analysis of differential expression and Mendelian randomization
Four genes are linked to alopecia areata, with two increasing risk and two offering protection.
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600-630 / 1000+ results research Regulation of Tmem30b-mediated apical membrane homeostasis in auditory outer hair cells is critical for hearing
The study identifies Tmem30b as a crucial regulator in outer hair cells (OHCs) for hearing, highlighting its role in maintaining the structure of hair bundles in the cochlea. Tmem30b, a phospholipid-flippase chaperone, initially localizes to the nuclear membrane and later stabilizes in the stereocilia and cuticular plate. Tmem30b −/− mice show early-onset hearing loss due to disorganized OHC stereocilia, starting at P7. Tmem30b partners with Atp8b1 to regulate phospholipid asymmetry, and disruption of this complex destabilizes OHC bundles. AAV-mediated delivery of Tmem30b to hair cells corrects stereocilia defects in Tmem30b −/− and Atp8b1 −/− mice, and overexpression of Tmem30b protects against noise-induced and aminoglycoside-induced hearing loss. The findings suggest Tmem30b–Atp8b1–mediated lipid regulation as a potential therapeutic target for hearing loss.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population
A specific genetic marker is linked to male pattern baldness in Han Chinese men.
research Genetic Differences between Male and Female Pattern Hair Loss in a Korean Population
Certain genes may influence hair loss differently in men and women.
research Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
AP-1 controls tumor cell type by affecting key signaling pathways.
research Modificazioni nella funzionalità , nell'espressione dei recettori GABAA extrasinaptici e nella plasticità sinaptica nell'ippocampo di ratto durante la gravidanza e dopo il parto.
During late pregnancy in rats, hormonal changes increased certain GABAA receptors in specific brain cells.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research A genetic test for androgenetic alopecia: polymorphisms in the androgen receptor gene provide a genetic screening test for androgenetic alopecia and earlier medical intervention
A genetic test can identify people at risk of male pattern baldness early, allowing for quicker treatment.
research Gap junctions in Turing-type periodic feather pattern formation
Gap junctions help control feather pattern formation by enabling cell communication.
research Identification of genes and proteins associated with anagen wool growth
Researchers identified key genes and proteins linked to wool growth in sheep.
research URTICA DIOICA EXTRACT DOWNREGULATES THE GENE EXPRESSION OF 5Α-RII IN HACAT CELLS: POSSIBLE IMPLICATIONS AGAINST ANDROGENIC SKIN DISEASES.
Urtica dioica extract may help treat androgenic skin diseases by reducing a specific gene's activity.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research Perbandingan Kadar Transforming Growth Factor-Beta 1 pada Platelet Rich Plasma dengan Metode Pure dan Buffy Coat pada Populasi Individu Sehat
The buffy coat method yields higher TGF-β1 levels in PRP, especially in males.
research Administration of dutasteride in animal models of retinitis pigmentosa
Dutasteride potentially improves cell survival and reduces retinal damage in retinitis pigmentosa.
research Imprinted Dlk1-Gtl2 cluster miRNAs are potential epigenetic regulators of lamb fur quality
miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
research Epigen Transgenic Mice Develop Enlarged Sebaceous Glands
Overexpressing the epigen gene in mice leads to enlarged sebaceous glands and greasy fur.
research Azathioprine‐induced alopecia and leukopenia associated with NUDT 15 polymorphisms
Certain genetic variations can make people more likely to experience hair loss and low white blood cell count from azathioprine.
research Upregulation of interfollicular epidermal and hair infundibulum β-catenin expression in Gsdma3 mutant mice
Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
research Integrating whole-genome re-sequencing and transcriptome data to reveal the molecular mechanism of TBX5 gene regulating feathered feet in Guangxi native chickens
TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
research New drugs: Agalsidase alfa
Agalsidase alfa helps treat Fabry's disease but needs more research for long-term benefits.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Triton modified polyethyleneimine conjugates assembled with growth arrest-specific protein 6 for androgenetic alopecia transdermal gene therapy
The treatment effectively promotes hair regrowth in androgenetic alopecia without causing skin irritation.
research Transglutaminase-3 Enzyme: A Putative Actor in Human Hair Shaft Scaffolding?
TGase 3 helps build hair structure by forming strong bonds between proteins.
research Testosterone Induces Increase in Aquaporin (AQP)-1, 5, and 7 Expressions in the Uteri of Ovariectomized Rats
Testosterone increases certain proteins in the uterus, reducing fluid volume.
research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.
A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
research miR-3606-3p alleviates skin fibrosis by integratively suppressing the integrin/FAK, p-AKT/p-ERK, and TGF-β signaling cascades
miR-3606-3p reduces skin fibrosis by blocking key signaling pathways.