April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that tissue transglutaminase (TG2) may play a role in sebum production by regulating autophagy in sebaceous glands, offering potential targets for dermatological interventions.
1 citations
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July 2024 in “Journal of Investigative Dermatology” TAK-279 effectively reduces psoriasis symptoms and is safe.
16 citations
,
September 2020 in “Animals” This study found that circRNA-1926 promotes hair follicle stem cell differentiation in cashmere goats by sponging miR-148a/b-3p to increase CDK19 expression.
2 citations
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February 2022 in “Human Gene Therapy” This study found that upregulated miR-149 restricted hair follicle stem cell differentiation and hair growth by inhibiting the MAPK1/ERK2 pathway, which affects FGF2 and c-MYC expression.
150 citations
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June 1999 in “Oncogene” 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.
June 2011 in “Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)” The researchers reported that both estrogen receptors ERα and ERβ are expressed in human testis, and identified two novel genes, Aven and Regucalcin, linked to estrogen and androgen regulation, which may be crucial for spermatogenesis.
1 citations
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April 2021 in “IntechOpen eBooks” This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.
158 citations
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December 2002 in “Development” In this study, Msx2-deficient mice showed progressive hair loss due to shortened anagen phase and prolonged catagen and telogen phases, resulting in cyclic alopecia with structurally abnormal hair shafts.
December 2024 in “Journal of Cosmetic Dermatology” In this study, researchers performed the first integrated transcriptomic and proteomic analysis of scalp biopsies from male androgenetic alopecia patients, finding a significant association between PPAR signaling pathways and AGA, with ME1 identified as a key regulator in this process.
25 citations
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November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
6 citations
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January 2018 in “Advances in experimental medicine and biology” 5 citations
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May 2014 in “Clinical and Experimental Dermatology” This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.
8 citations
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March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that weakened anchorage of hair shafts, associated with the abnormal expression of 14-3-3σ, may contribute to alopecia in Er/+ mice.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
1 citations
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June 2016 in “FEBS open bio” This study reports that topical fish oil treatment in GsdmA3 Dfl/+ mice increased cellular proliferation and macrophages but did not affect COX-2 expression related to psoriasis-like skin changes.
10 citations
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September 2021 in “The FASEB Journal” This study found that ACKR2 plays a crucial role in reducing inflammatory skin fibrosis and promoting inflammation resolution through IFN‐β production, limiting tissue scarring.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
April 2023 in “Journal of Investigative Dermatology” This study found that MPZL3 plays a crucial role in controlling sebaceous gland size and sebocyte proliferation in mice and humans, implicating its potential involvement in skin disorders like acne and psoriasis.
4 citations
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May 1998 in “PubMed” This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.
3 citations
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July 2017 in “Journal of Investigative Dermatology” This study found that SSEA-4 is a marker that distinguishes eccrine from apocrine ductal cells in human sweat glands, suggesting its potential use in diagnostic applications.
10 citations
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May 2020 in “Frontiers in cell and developmental biology” In this study, researchers found that Dicer, but not Tarbp2, plays a crucial role in regulating the growth phase of hair follicles in post-natal mice.
November 2022 in “Journal of Investigative Dermatology” This study identified a novel LZTR1 mutation associated with hybrid schwannoma and neurofibroma in a patient with schwannomatosis, but not all cases of hybrid tumors are linked to this condition.
1 citations
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January 2016 in “Journal of Biosciences and Medicines” This study found that the ACTH/MC2R system is important for hair cycle regulation, with deficiencies in MC2R leading to altered hair growth phases in mice.
January 2026 in “Therapeutics” This study found that SCUBE3 protein is upregulated in various cancers, promoting tumor growth and poor outcomes, while suppressing growth in renal cell carcinoma, and may serve as a diagnostic marker and potential therapeutic target for several diseases due to its secreted nature.
November 2024 in “Journal of Investigative Dermatology”
36 citations
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July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
September 2026 in “Aging Cell” This study found that knocking down SFRP2 in an AGA model improved hair regeneration and reduced cellular dysfunction, suggesting that targeting the SFRP2-FSTL1 axis could be a promising therapeutic strategy for androgenetic alopecia.
130 citations
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January 2000 in “Nature biotechnology”