2 citations
,
September 2004 in “Experimental Dermatology” This study found that VR1 activation in human hair follicles inhibited hair growth by suppressing proliferation and promoting apoptosis, suggesting VR1 plays an important role in hair growth regulation.
57 citations
,
January 2013 in “International Journal of Medical Sciences” This study reports that Lef1 plays a crucial role in promoting bulge stem cell differentiation towards hair fate by activating β-catenin and downstream signaling pathways during hair follicle development.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
6 citations
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May 2022 in “Frontiers in physiology” This study suggests that an in ovo injection of CHIR-99021 promoted feather growth and follicle development in goose embryos by activating the Wnt signaling pathway.
17 citations
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February 2019 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that manipulating AKR1D1 expression in human liver cells effectively regulates glucocorticoid clearance and receptor activation, highlighting its role in liver-specific steroid hormone regulation.
23 citations
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December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
49 citations
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January 2010 in “Plant and Cell Physiology” This study found that a phosphorus starvation-insensitive mutant of Arabidopsis thaliana shows altered root growth and auxin responses under low phosphate conditions compared to wild-type plants, suggesting a role for LPR1 in regulating these traits.
April 2019 in “Journal of Investigative Dermatology” This study found that blocking LFA-1 signaling completely prevented the development of alopecia areata in C3H/HeJ mice, suggesting that LFA-1 plays a crucial role in the disease's pathogenesis and could be a target for new therapies.
9 citations
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August 2021 in “Biomedicines” This study found that 17β-estradiol was the most powerful hormone for inducing APE1/Ref-1 secretion in cultured vascular endothelial cells, with secretion occurring through exosomes dependent on estrogen receptors and intracellular calcium.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
58 citations
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November 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mutations in the Foxn1 gene in nude mice affect not only hair but also nail structure and differentiation, offering insights into nail hypergranulosis pathogenesis relevant to human nail diseases.
13 citations
,
August 2020 in “Frontiers in Cell and Developmental Biology” This study found that Twist1 and Tcf4 synergistically regulate the hair follicle induction ability of dermal papilla cells by forming a complex with β-catenin, enhancing their biological properties.
76 citations
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April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that the AR-E211 A allele is associated with a lower risk of both metastatic prostate cancer and androgenetic alopecia in an Australian population.
September 2022 in “Zenodo (CERN European Organization for Nuclear Research)” This article discusses Fluxactive Complete, a natural supplement for prostate health, and reports no new clinical results.
This study found that the Arabidopsis thaliana protein Formin 2 localizes to plasmodesmata and is crucial for regulating their permeability by anchoring actin filaments, which affects virus susceptibility.
5 citations
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May 2020 in “Life science alliance” This study found that epidermal-specific deletion of integrin α3β1 significantly reduces papilloma formation in a skin carcinogenesis model by modulating HB stem cell behavior and CCN2 expression.
5 citations
,
June 2015 in “The Journal of Dermatology” This study identified "HTLV-1-associated lichenoid dermatitis" as a skin condition in HTLV-1-infected individuals, characterized by reactive eruptions associated with increased immunity toward infected CD4+ T cells.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.
1 citations
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August 2023 in “Biomolecules & therapeutics” In this study, researchers found that recombinant human HAPLN1 promoted hair growth in mice and human hair matrix cells by activating specific signaling pathways, suggesting it may offer a potential hair loss treatment with fewer side effects than existing medications.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
3 citations
,
January 2022 in “Burns & Trauma” This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.
April 2019 in “Journal of Investigative Dermatology” This study found that BRG1 is crucial for keratinocyte migration during skin wound healing, as its suppression impairs wound closure by inhibiting migration without affecting cell proliferation or apoptosis.
5 citations
,
January 2016 in “Dermatology” This study found no significant difference in CAG repeat numbers of the androgen receptor gene between Han Chinese women with female pattern hair loss and healthy controls, suggesting it may not be a genetic marker for FPHL in this population.
37 citations
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August 1999 in “Journal of Investigative Dermatology” This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.
3 citations
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June 2013 in “Genes & development” In their research, Yucel and colleagues found that CaV1.2 is expressed in hair follicle stem cells, facilitating anagen re-entry in a way not dependent on calcium flux.
1 citations
,
March 2024 in “Genes & Diseases” EBF1 controls hair type and length.
This study found that GPC1 is a key regulator of angiogenesis in human dermal microvascular endothelial cells, influenced by factors secreted by keratinocytes, and may be a target for alopecia treatment research.
1 citations
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August 2015 in “AACE Clinical Case Reports” This case report identifies a novel AR gene mutation in an adolescent with primary amenorrhea, suggesting that CAIS should be considered when evaluating patients with a female phenotype and breast development.