January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
25 citations
,
May 2003 in “Expert Opinion on Therapeutic Patents” This review examines patents and publications on steroid sulfatase inhibitors since 1999 and reports no new clinical results, highlighting their potential for treating estrogen- and androgen-driven conditions.
April 2023 in “Journal of Investigative Dermatology” This study found that inhibiting PI3 kinase in epidermal stem cells reduces YBX1 phosphorylation, thereby decreasing cellular senescence and enhancing wound healing and regeneration in adult-derived skin models.
37 citations
,
September 2003 in “Journal of Medicinal Chemistry” This study found that compound 2g inhibits steroid sulfatase effectively without exhibiting estrogenic activity, making it a promising candidate for breast cancer treatment.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.
26 citations
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July 2007 in “Biochemical Pharmacology” This study found that phenyl-imidazole sulfonamide derivatives, particularly ISCK03, inhibited c-kit signaling and promoted depigmentation in various experimental settings, suggesting potential use as skin-whitening agents.
This study identified the combination of NCBP3, SDHA, and PTPRA as stable reference genes for normalizing gene expression in goat skin tissue research.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
January 2026 in “International Journal of Molecular Sciences” In this study, researchers identified S100a4 as a critical regulator of secondary hair follicle stem cells in cashmere goats, linking its expression to follicle regeneration and differentiation pathways, which may have implications for enhancing cashmere fiber production.
January 2022 in “Research Square (Research Square)” This study found that elevated TSPEAR expression in colorectal cancer was associated with poor overall prognosis and correlated with tumor infiltrating immune cells, suggesting its potential as a predictive biomarker.
March 2024 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” In this study, supplementing ewes with soy hulls instead of a traditional corn-based supplement showed no impact on gastrointestinal nematode infection levels in hair sheep ewes managed in a pasture-based system, though some differences in packed cell volume at weaning were noted.
57 citations
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April 2009 in “Differentiation” This study demonstrates that SDF-1/CXCL12 and CXCR4 signaling play a crucial role in directing the migration and positioning of melanoblasts in mouse hair follicle formation.
46 citations
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April 2014 in “PLOS ONE” This study found that compromised antioxidant activity in gray hair follicles affects both mature melanocytes and their immature precursors, linked to down-regulation of melanogenesis-related genes.
July 2025 in “Advanced Science” In this study, researchers discovered two new signaling pathways that regulate how melanocytes establish pigment patterns in reconstituted hair-bearing skin, offering insights that could inform strategies to prevent hair greying.
March 2022 in “Research Square (Research Square)” This study found that 4-aminopyridine significantly improved skin wound healing by enhancing wound closure, tissue regeneration, and cellular interactions involved in repair processes.
February 2022 in “Research Square (Research Square)” This study found that high TSPEAR expression in colorectal cancer was associated with poor prognosis and correlated with various tumor and immune-related factors.
5 citations
,
February 1998 in “Polymer” Human hair keratin has a 40% α-helix structure that changes to a random coil in 8 M urea.
42 citations
,
August 1995 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that RXR-alpha is strongly expressed in both normal and psoriatic human skin, suggesting it may play a role in the transition from proliferation to differentiation in epidermal keratinocytes.
18 citations
,
August 2018 in “The FASEB journal” This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
4 citations
,
October 2014 in “Journal of Integrative Agriculture” This study identified 417 genes with differential expression at varying stages of cashmere growth in goats, highlighting their potential role in tissue remodeling and cashmere regeneration.
This study analyzed inner root sheath-specific genes in Tan sheep during various growth stages, finding peak expression at birth. The pattern of genes KRT71, KRT72, and TCHH is consistent with wool crimp, potentially influencing wool morphology.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
1 citations
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January 2008 in “China Journal of Bioinformatics” This study identified that a significant number of expressed sequence tags from Cashmere goat skin with anagen hair follicles were genes coding for keratin or keratin-associated proteins.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
This study found that super-enhancers play a crucial role in driving malignant progression in squamous cell carcinoma stem cells through a regulatory network involving ETS2 transcription factors, highlighting the potential link between high ETS2 levels and poor patient outcomes in head and neck cancers.
60 citations
,
November 2009 in “General and Comparative Endocrinology” The researchers reported that during early embryogenesis and larval development in Silurana tropicalis, inhibiting steroidogenic enzymes cyp19 and srd5beta affects genes related to thyroid and reproductive systems.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
10 citations
,
September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
4 citations
,
December 2023 in “Medicine” This study found that the genes MYLK and CALD1 were expressed at lower levels in bladder cancer and osteosarcoma tissues compared to normal tissues, and their expression levels appeared to correlate with poorer survival outcomes, suggesting they may be important in disease progression and prognosis.