25 citations
,
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.
32 citations
,
May 2018 in “The Plant Cell” This article discusses the crucial role of root hairs in water and nutrient uptake from soil and reports no new findings.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
March 2026 in “Calcified Tissue International” This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
117 citations
,
April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
11 citations
,
August 2014 in “PLoS ONE” This study found that GFRα2 influences cell size but not survival or target innervation of Ret-positive low-threshold mechanoreceptors in mouse dorsal root ganglia, differing from its role in nonpeptidergic nociceptors.
109 citations
,
February 2018 in “CB/Current biology” This study concluded that the receptor-like kinase ERULUS, regulated by auxin, is crucial for modulating cell wall composition and pectin dynamics during root hair growth in Arabidopsis.
4 citations
,
December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
91 citations
,
December 2019 in “The EMBO Journal” This study found that the E3 ligases NEDD4 and NEDD4L regulate intestinal stem cell priming by degrading the LGR5 receptor, and their loss leads to increased Wnt activation and crypt proliferation, which in turn accelerates intestinal tumor progression in mice.
September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
2 citations
,
July 2005 in “International Joint Conference on Artificial Intelligence” This study suggests that EREG, released from ORS cells, may promote hair growth by activating specific receptors and modulating ROS generation, offering a potential new treatment for hair loss.
March 2024 in “Plant physiology” This study found that the transcription factor GLABRA 2 inhibits ethylene production, regulating root hair growth in Arabidopsis under nutrient deficiency conditions.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
39 citations
,
August 1998 in “FEBS Letters” In this study, researchers identified two novel peptidylarginine deiminases from treated rat keratinocytes, both showing enzyme activity with PAD‐R11 reflecting a characteristic of epidermal enzymes.
September 2025 in “Development” In this study, deleting the transcriptional pause factor Nelfb in mouse preadipocyte lineages led to defective dermal fat formation and lethal outcomes, while interventions targeting Pparg could rescue adipocyte differentiation and promote dermal white adipose tissue formation, underscoring Nelfb's critical role in adipogenesis.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
7 citations
,
July 2005 in “Journal of Dermatological Science” This study identified a gene transcript overexpressed in dermal papilla cells, showing strong similarity to a mouse gene associated with adipose tissue in bombesin receptor subtype-3-deficient mice.
29 citations
,
September 2018 in “Journal of the American Heart Association” This study found that EP 2 signaling is crucial for macrophage recruitment and inflammatory regulation in the injured heart, impacting cardiac repair processes.
February 2009 in “Journal of Investigative Dermatology” EGFR is essential for organized skin nerve growth and branching.
11 citations
,
July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that deleting Ube2n in adult mouse skin leads to inflammation and other skin changes, and identifies IRAK1/4 as potential treatment targets for inflammatory skin disorders.
October 2021 in “QJM: An International Journal of Medicine” This study suggests that altered levels of NRF2 may be important in the development of androgenetic alopecia in men.
8 citations
,
March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
March 2024 in “European Journal of Neuroscience” This study, using a reporter mouse line, characterized diverse subtypes of dopaminergic neurons in the enteric nervous system, identifying unique subtypes with potential roles in gut function and disease.
56 citations
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March 2003 in “Journal of Investigative Dermatology” This study found that 17β-estradiol inhibited RANTES production in human keratinocytes by suppressing nuclear factor κB activity, suggesting a potential mechanism for 17β-estradiol's modulation of psoriasis-related inflammation.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
November 2023 in “Biomolecules” In this study involving genetically modified rats, researchers observed that specific mutations in the vitamin D receptor affect calcium levels and bone formation, emphasizing the receptor's role in maintaining healthy bone density and its importance in regulating hair cycle and skin health.