74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mechanical disruption of the desmosomal cadherin Dsg3 in hair follicle stem cells activates them from quiescence, highlighting its role as a key regulator of stem cell quiescence and epithelial niche integrity.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
1 citations
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January 2020 in “Research Square (Research Square)” This study found that inherited color dilution in Rex rabbit hair follicles is associated with DNA methylation changes, contributing to understanding the epigenetic regulation of rabbit pigmentation.
January 2024 in “Skin Appendage Disorders” 87 citations
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March 2017 in “Journal of Clinical Investigation” In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
3 citations
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February 1983 in “Journal of Investigative Dermatology” This study found that plucking hair from rats' dorsal skin rapidly decreased ornithine decarboxylase activity, possibly due to an inhibitory substance that was activated by ammonium sulfate treatment.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that deleting all three Tet genes in mice led to shorter hair shafts and altered hair types, with associated changes in gene expression and DNA hydroxymethylation.
January 2018 in “International Journal of Advances in Scientific Research and Engineering” This study presents a new automated method for measuring total phenolic compounds in Ziziphus Jujuba fruit extract, showing high precision and potential applications in health and environmental sciences.
March 2023 in “Asian Journal of Beauty and Cosmetology” This study found that the herbal extract HX109 promoted hair growth in mice by increasing cell viability and enhancing hair regrowth, with the effects increasing as doses rose.
2 citations
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July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
August 2022 in “International Journal of Molecular Sciences” 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.
35 citations
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December 2017 in “Journal of Experimental Botany” In this study, CSLD3 overexpression in Arabidopsis enhanced root and hypocotyl growth by increasing cell elongation, with root growth highly sensitive to ethylene and phosphate starvation conditions.
86 citations
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November 2015 in “Journal of Gastroenterology” This study reported that the NUDT15 R139C genetic variant was significantly associated with thiopurine-induced leukocytopenia in Japanese inflammatory bowel disease patients, independent of 6-thioguanine nucleotide levels.
4 citations
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January 2021 in “International Journal of Medical Sciences” This study suggests that miR-182 may play an essential role in hallux valgus development by regulating FGF9 expression, indicating a potential therapeutic target for its treatment.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.
16 citations
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September 2015 in “Journal of Ethnopharmacology” This review examines the long-standing use of "Dictamnus" in traditional medicine, highlighting the promising potential of D. albus and D. hispanicus as herbal drug candidates, but presents no new experimental findings.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
76 citations
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January 1998 in “Mammalian Genome” 60 citations
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April 1998 in “Baillière s Clinical Endocrinology and Metabolism” This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.
April 2024 in “BENTHAM SCIENCE PUBLISHERS eBooks” The document's conclusion cannot be provided because the document is not readable or understandable.
November 2025 in “BMC Genomics” This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.
4 citations
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January 1992 in “The Tohoku Journal of Experimental Medicine” In this study, chronic zinc chloride administration in mice led to the replacement of long coarse hairs with short fine hairs, while overall skin histology remained normal.
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.
3 citations
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November 2017 in “International Journal of Pharmacy and Pharmaceutical Sciences” This study identified new oxidative derivatives of finasteride, including a newly discovered metabolite, by using the fungus Macrophomina phaseolina.
June 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.
13 citations
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February 2023 in “Aging” This study found that exosomes from hair follicle mesenchymal stem cells overexpressing lncRNA H19 promoted diabetic skin wound healing by enhancing cell proliferation, migration, and reducing pyroptosis.