25 citations
,
June 2014 in “Journal of Endocrinology/Journal of endocrinology” This study found that local androgen biosynthesis and metabolism in human sebaceous glands play a crucial role in sebum synthesis and secretion.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
December 2023 in “International journal of molecular sciences” This in vitro study found sex chromosome differences affect steroidogenic enzyme activity and androgen receptor expression in human skeletal muscle cells, showing varied responses to testosterone exposure between 46XY and 46XX cells.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
9 citations
,
September 2013 in “Journal of Applied Animal Research” This study identified eight alleles of the caprine KAP13-3 gene in cashmere goats, which could influence gene expression and cashmere fiber characteristics.
74 citations
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January 2020 in “Frontiers in Genetics” In this study, the researchers identified key genes with differential m6A methylation involved in cashmere fiber growth, suggesting these modifications may play a significant role in this process.
40 citations
,
November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the S100A3 gene is exclusively expressed in hair follicle cells differentiating into hair shaft components in mice, suggesting its important role in hair formation.
11 citations
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January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
10 citations
,
July 2022 in “Electronic Journal of Biotechnology” This study found that the methylation level of the IGFBP4 promoter is negatively correlated with mRNA expression and may serve as an epigenetic marker for wool fineness in Super Merino sheep.
3 citations
,
December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
January 2025 in “Case Reports in Genetics” 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.
77 citations
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February 2017 in “Stem Cell Reports” This study found that activation of Wnt/β-catenin signaling in mouse testes promotes spermatogonial differentiation and reduces the stem cell pool, with SHISA6 inhibiting this process and maintaining stem cell characteristics.
April 2023 in “Journal of Investigative Dermatology” This study found that KROX20 is crucial for hair follicle development and epidermal homeostasis, as its deletion in skin epithelial cells led to hair loss and increased epidermal thickness.
12 citations
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February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
34 citations
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September 2007 in “Experimental Dermatology” This study found that the outer protein layer of Merino wool is rich in sulfur-containing proteins similar to those found in both sheep wool and human hair.
This study found that super-enhancers in squamous cell carcinoma stem cells are distinctly different from those in normal skin stem cells, with ETS2 playing a crucial role in promoting tumor growth.
March 2026 in “Adipocyte” This study identified transcription elongation as a crucial regulatory factor in adipocyte cell fate, showing that the elongation factors Spt4 and Spt6 are essential for proper adipogenic differentiation by aiding RNA polymerase II progression through key adipogenic genes.
35 citations
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August 2009 in “Differentiation” This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
January 2025 in “Scholarly Commons (University of Pennsylvania)” This study found that the X-linked gene UTX is crucial for regulating skin differentiation and inflammation in females by affecting retinoic acid signaling, also highlighting potential links to sex disparities in skin diseases.
January 1990 in “Advances in forensic haemogenetics” This study used one-dimensional SDS electrophoresis to examine low sulfur proteins in hair samples from multiple generations within five families, but does not report new results.
July 2025 in “International Journal of Molecular Sciences” This genetic study identified four new keratin-associated protein genes in sheep, revealing significant sequence variation and suggesting complex evolutionary dynamics, with unique variants in some sheep breeds linking them to Romanov sheep ancestry.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” This study found that certain gene polymorphisms in keratin 27 and ELOVL4 are linked to improved cashmere fineness and production traits in Liaoning cashmere goats.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” 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.
36 citations
,
November 2005 in “Forensic Science International” This study developed a new STR typing strategy for forensic casework, enabling the simultaneous analysis of 11 polymorphic systems, particularly useful for limited or degraded DNA samples such as telogen hair roots.
32 citations
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February 2008 in “Developmental dynamics” This study indicates that the Sp6 gene is crucial for the development of skin, teeth, limbs, and lungs in mice, possibly through regulating apoptosis.
2 citations
,
February 2025 in “Poultry Science” In this study, researchers investigated the genetic basis of the feathered foot trait in Guangxi native chickens and found that the gene TBX5 plays a critical role, suggesting it affects feather formation by regulating the proliferation and migration of dermal fibroblasts.
January 2011 in “Nuclear Techniques” This study found that lead accumulated in the hair shafts of individuals exposed to mining environments, while iron, copper, and zinc levels remained stable, highlighting the significance of SRXRF micro-analysis for environmental health research.
January 2026 in “Figshare” This table reports gene set enrichment analysis scores for hair follicle compartments across diseases and sampling methods, providing comparisons but no new experimental findings.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.