6 citations
,
June 2021 in “Developmental biology” This study found that dermal EZH2 plays a crucial role in controlling fibroblast differentiation by regulating Wnt/β-catenin and retinoic acid signaling during skin development.
50 citations
,
February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
35 citations
,
April 1998 in “PubMed” This study found that activating the erbB-2 oncogene in transgenic mice led to severe skin abnormalities and fatal defects, indicating erbB-2's significant role in skin and hair follicle development.
November 2022 in “Journal of Investigative Dermatology” This study suggests that human dermal papilla cells respond to hypoxia by increasing the expression of HIFs, TGF-β2, and BMP4, which may influence hair cycle regulation.
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.
July 2022 in “International Journal of Contemporary Pediatrics” This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.
28 citations
,
November 2013 in “Cell and Tissue Research” 3 citations
,
March 2016 in “Experimental Dermatology” This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
36 citations
,
January 2019 in “Nature communications” This study found that Ldh activity in hair follicle stem cell-mediated squamous cell carcinoma is not necessary for tumorigenesis, as its modulation did not affect the cancer's development or characteristics.
4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.
47 citations
,
August 2024 in “Science Advances” This study introduces a new biomimetic double wound mask designed to promote scarless healing by coordinating multiple biological pathways and providing enhanced protection and nourishment to wounds.
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
152 citations
,
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.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” This study highlights the potential of ZDHHC17 methylation as a biomarker or therapeutic target in addressing skin aging, offering new insights into its molecular mechanisms.
4 citations
,
November 2024 in “Journal of Advanced Research” In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
January 2012 in “Else Kröner-Fresenius Symposia” This symposium reported that DNA damage accumulation in aging stem cells affects genome integrity, highlighting novel mechanisms like Bmi1's role in DNA repair and the involvement of BATF in lymphoid differentiation.
November 2024 in “Journal of Investigative Dermatology”
30 citations
,
May 1999 in “Food and chemical toxicology” This study suggests that topical procyanidin B-2 is safe for use as a hair growth agent, as it showed no mutagenic effects or significant irritation in a series of toxicological tests.
1 citations
,
November 2025 in “Aging Cell” This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.
January 2023 in “Indian dermatology online journal” This case study describes a previously unknown association of the PIBIDS complex with autoimmune thyroiditis and autoimmune hemolytic anemia in a five-year-old Indian child.
11 citations
,
August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
3 citations
,
December 2023 in “Aging” In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
October 2014 in “Archives of Disease in Childhood” This case study reported that growth hormone therapy dramatically improved rickets symptoms and growth in three children with vitamin-D dependent rickets type 2 who had not responded to standard treatments.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
October 2024 in “Developmental Dynamics” This paper highlights advances in Developmental Dynamics, noting how epoa-deficient zebrafish can model Diamond-Blackfan anemia like disorders for drug screening, Alx4 mouse models offer insights into craniofacial development, and mTORC1 signaling is crucial for retinal development.