July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
117 citations
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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.
22 citations
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November 2016 in “International journal of molecular sciences” This study suggests that impaired VDR signaling in mice leads to dysregulated Ddit4 expression, impacting hair cycle progression and wound healing.
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.
7 citations
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February 2019 in “Veterinary medicine and science” This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.
July 2026 in “Journal of Investigative Dermatology” 3 citations
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March 2024 in “Journal of the American Academy of Dermatology” Low-dose naltrexone helps improve symptoms and stabilize frontal fibrosing alopecia and lichen planopilaris.
September 2023 in “Journal of the American Academy of Dermatology” This study found that in participants with notalgia paresthetica, 8 weeks of treatment with difelikefalin significantly improved itch intensity and increased the rate of strict complete response compared to placebo, starting as early as week 3.
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.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
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.
96 citations
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March 2007 in “Developmental biology” This study found that the Wnt inhibitor Dkk4 may play a role in regulating hair follicle development through a feedback loop with canonical Wnt signaling pathways.
2 citations
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January 2023 in “Curēus” In this study, low-dose naltrexone significantly reduced erythema in patients with frontal fibrosing alopecia and lichen planopilaris after one year, but no significant improvements were seen in other symptoms.
April 2016 in “Journal of Investigative Dermatology” This study found that the peptide derivative beta-Ala-Pro-Dab-NHbenzyl may reduce wrinkles and sebum production in human skin by inhibiting dipeptidyl peptidase 4, suggesting potential for acne and skin inflammation treatment.
2 citations
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July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
21 citations
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December 2016 in “European journal of pharmaceutics and biopharmaceutics” This study found that nano-sized lipid particles improved the skin accumulation and retention of dexamethasone compared to a base cream, suggesting potential benefits for inflammatory skin disease treatment.
April 2026 in “International Journal of Molecular Sciences” This study reviews evidence that in keloid development, transforming growth factor-β (TGF-β) drives fibroblast proliferation and fibrosis not only through the classical Smad-dependent pathway but also via equally important Smad-independent signaling cascades, suggesting these pathways as possible targets for more effective keloid therapies.
477 citations
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March 2004 in “Proceedings of the National Academy of Sciences” This study reports that the DMI3 gene, essential for nodule formation in legume-rhizobial symbiosis, encodes a calcium/calmodulin-dependent protein kinase, highlighting its role in multiple plant symbioses.
4 citations
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January 2019 in “Dermatology Online Journal” This article discusses the potential of low-dose naltrexone as an adjuvant therapy for trichodynia in alopecias, noting its anti-inflammatory properties and need for further research.
January 2006 in “Dianzi xianwei xuebao” This study observed that ultrastructural changes like lamellar bodies and electron-dense granules in the stratum corneum may aid in the early diagnosis of Netherton syndrome.
February 2026 in “Indian Journal of Dermatology” This case report found that a 48-year-old woman with idiopathic twenty-nail dystrophy experienced significant improvement in nail appearance after six months of treatment with oral Upadacitinib.
17 citations
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August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
5 citations
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November 2024 in “Journal of Clinical Immunology” This study reports that a 9-week-old infant with Netherton syndrome showed rapid and sustained symptom improvement, including skin microbiome normalization and developmental progress, after off-label dupilumab treatment, without adverse reactions.
1 citations
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April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified the NAC transcription factor RD26 as a critical regulator of drought-induced root hair growth restriction in Arabidopsis thaliana, with a similar mechanism observed in tomatoes, indicating evolutionary conservation.
78 citations
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October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
208 citations
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November 2000 in “Development” This study found that while Eda and Edar proteins interact in vitro, their roles in dental development differ, with downless mutant mice showing distinct tooth defects compared to tabby mutants.
April 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that distinct neurons in the nucleus accumbens lateral shell regulate scratching behavior differently; D1R neurons promote scratching while D2R neurons help stop it, with elevated dopamine levels during chronic itch potentially enhancing persistent scratching.
21 citations
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March 2018 in “American Journal Of Pathology” In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
August 2009 in “Mechanisms of Development”
January 2018 in “Hair transplant forum international” This study explores the use of low-dose naltrexone as a novel treatment for lichen planopilaris, but specific results or outcomes are not detailed in the abstract.