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30-60 / 1000+ resultsresearch Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis
This systematic review and meta-analysis reported potential risk variants for acne in genes related to inflammation and sebaceous gland function, including TNF, CYP17A1, and FST, across diverse populations.
research Superiority of dutasteride over finasteride in hair regrowth and reversal of miniaturization in men with androgenetic alopecia: A randomized controlled open-label, evaluator-blinded study
In this study of men with androgenetic alopecia, dutasteride was shown to be more effective than finasteride in increasing hair count and reversing hair miniaturization over 24 weeks, with both treatments displaying similar side effect profiles.
research Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.
research 5α-Reductase Isoenzymes: From Neurosteroid Biosynthesis to Neuropsychiatric Outcomes
This systematic review synthesizes evidence on the distribution of 5a-reductase isozymes and their implications for mental health, finding that inhibition of neurosteroidogenesis may contribute to anxiety, depression, and suicidality, with some patients experiencing persistent psychiatric effects from finasteride or dutasteride.
research SRD5A2 and emerging therapies in androgen-driven disorders
research Advancements in Bioactive Compounds and Therapeutic Agents for Alopecia: Trends and Future Perspectives
This review synthesizes recent molecular and preclinical advances in alopecia areata and androgenetic alopecia, highlighting how interventions targeting specific intracellular signaling pathways and utilizing stem cell technologies can support precision regrowth and structural follicle reconstruction.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
research Pharmacogenetics of the Androgen Metabolic Pathway
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
research DNA Methylation Mediates lncRNA2919 Regulation of Hair Follicle Regeneration
This study found that lncRNA2919 negatively impacts hair follicle regeneration by decreasing follicle depth and density in a rabbit model, suggesting a regulatory role in the hair follicle cycle through DNA methylation.
research Polymorphism of Exon V of prolactin gene and its association with Cashmere traits in Changthangi Pashmina goats
This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
research Construction of a cDNA library and identification of genes from Liaoning cashmere goat
This study successfully constructed a skin cDNA library from the Liaoning cashmere goat during follicle anagen and identified two genes with significant expression in heart, skin, and hair follicles.
research LncRNA-599547 contributes the inductive property of dermal papilla cells in cashmere goat through miR-15b-5p/Wnt10b axis
This study found that lncRNA-599547 positively regulates the expression of the Wnt10b gene by interacting with miR-15b-5p, enhancing the inductive property of dermal papilla cells in cashmere goats.
research CCDC22 and CCDC93, two potential retriever-interacting proteins, are required for root and root hair growth in Arabidopsis
This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.
research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.
research LncRNA018392 promotes the proliferation of Liaoning cashmere goat skin fibroblasts by upregulating CSF1R through binding to SPI1
This study found that the lncRNA018392, responsive to melatonin, accelerates cell proliferation in cashmere goats by recruiting the transcription factor SPI1 to upregulate the nearby gene CSF1R, which may explain the molecular mechanisms of cashmere growth.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
research Screening and Identification of LncRNAs Related to Villus Growth of Liaoning Cashmere Goats and Their Effects on Growth after FGF5 Treatment
This study explored how long non-coding RNA mediates the effects of FGF5 on the hair follicle development and villus growth of Liaoning cashmere goats.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
research Arabidopsis retromer subunit AtVPS29 is involved in SLY1-mediated gibberellin signaling
This study found that the retromer protein AtVPS29 in Arabidopsis plants modulates gibberellin signaling by upregulating the SLY1 protein and downregulating the RGA protein, ultimately enhancing the development of the root meristematic zone.
research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
This study identified a 582-bp deletion upstream of LHX2 in cashmere goats, likely linked to hair follicle development and cashmere production, providing insights into genetic factors in cashmere trait selection.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
research A kindred with mutant IKAROS and autoimmunity
This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
research DNMT3B -579G>T POLYMORPHİSM AND THE RİSK OF COLORECTAL CANCER IN AZERBAİJAN POPULATİON
This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.