July 2024 in “Journal of Investigative Dermatology” In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
9 citations
,
January 2018 in “Acta dermato-venereologica” This study found that carbonic anhydrase II was significantly upregulated in human keratinocytes when treated with toll-like receptor 3 agonist and Th2 cytokines, suggesting its potential role in inflammatory skin conditions.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
40 citations
,
June 2011 in “Journal of biological chemistry/The Journal of biological chemistry” This study revealed that deficiency in the enzyme FA2H in mice affected sebaceous gland function, altered sebum composition, and caused cycling alopecia, highlighting FA2H's role in hair follicle homeostasis.
21 citations
,
September 2010 in “Cancer Prevention Research” This study suggests that IGFBP-2 may play a role in basal cell carcinoma development by mediating epidermal progenitor cell expansion in hair follicles with activated Shh signaling.
7 citations
,
May 2021 in “Animal Genetics” This study found that the Siberian sunshine tabby coat modification is associated with a specific CORIN gene variant, suggesting a genetic basis for this golden phenotype in cats.
4 citations
,
January 2025 in “The Journal of Cell Biology” This study found that deleting ceramide synthase 4 in skin epidermis stem cells disrupts hair follicle and skin barrier function, leading to immune responses similar to atopic dermatitis, due to imbalances in lipid composition affecting differentiation.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
November 2025 in “Biocell” This article explores how the integrated stress response and senescence-associated secretory phenotype influence stem cell fate decisions, highlighting their dual roles in both protecting and disrupting stem cell integrity.
December 2021 in “Figshare” This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.
11 citations
,
January 2021 in “British Journal of Dermatology” This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
20 citations
,
February 2010 in “Journal of Investigative Dermatology” Slug (Snai2) helps regulate hair growth timing in mice.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
37 citations
,
September 2008 in “Plant Signaling & Behavior” In this study, overexpression of the gene OsPHR2 in rice led to increased root growth and phosphate accumulation in shoots, suggesting its role in phosphate signaling and homeostasis.
January 2007 in “Journal of Southwest University” This study identified that the ND1 gene sequence of the Asian black bear's Sichuan subspecies shares high similarity with those of other bear species, raccoons, and Ailurus fulgens.
27 citations
,
June 2013 in “Genes & development” This study found that L-type channel blockers can induce hair growth in Timothy syndrome by overcoming delays in anagen phase, suggesting a potential therapeutic role for tissue regeneration.
27 citations
,
May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the IGF2 gene Apa1 A820G polymorphism is associated with an increased risk of developing PCOS in the studied population.
23 citations
,
January 1996 in “Software Engineering and Knowledge Engineering” This study hypothesizes a possible association between certain endocrine abnormalities and 11q-syndrome, emphasizing the importance of early diagnosis and management to improve patient quality of life.
57 citations
,
January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
19 citations
,
March 2016 in “Frontiers in Plant Science” This study identified that spermidine-mediated activation of eIF5A by hypusination plays a significant role in Arabidopsis thaliana growth, flowering time, stress adaptation, and development, including changing root and aerial architecture.
10 citations
,
December 2021 in “Frontiers in Cell and Developmental Biology” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is essential for periodontal ligament homeostasis under occlusal hypofunction conditions.
28 citations
,
December 2018 in “Plant, cell & environment/Plant, cell and environment” This study found that the PLC2 gene plays a critical role in auxin-mediated root development in Arabidopsis, influencing root growth and PIN2 distribution.
6 citations
,
November 2019 in “Journal of Cosmetic Dermatology” This study found that applying a 1% BOI lotion improved hair density and thickness in patients with mild pattern hair loss over six months.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
21 citations
,
October 2017 in “Cell death and disease” This study found that the absence of the stress-responsive protein Sesn2 increased hair cell susceptibility to gentamicin in the inner ear, indicating Sesn2's potential protective role against aminoglycoside-induced damage.
December 2021 in “Figshare” This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.
16 citations
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April 2023 in “Physical Medicine and Rehabilitation Clinics of North America”