5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
18 citations
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October 2009 in “Endocrinology” This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
3 citations
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January 2013 in “Journal of cosmetics, dermatological sciences and applications” This study found that the new HCC additive enhances the permeation of pigments and active ingredients into hair, suggesting potential use in developing functional cosmetic hair products.
2 citations
,
January 2016 in “Experimental Dermatology” This symposium updated participants on the latest advances in understanding and managing hidradenitis suppurativa, emphasizing the need for individualized treatment plans and highlighting recent progress in therapies and epidemiology.
3 citations
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September 2024 in “Journal of Microbiology and Biotechnology” This study found that human placenta hydrolysate effectively inhibited atopic dermatitis development in stimulated human cells and a mouse model, suggesting its potential as a therapeutic agent for related skin diseases.
1 citations
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May 2019 in “Journal of The European Academy of Dermatology and Venereology” New method, hair distribution width (HDW), improves accuracy in diagnosing androgenetic alopecia (AGA).
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
January 2026 in “Biomaterials” 23 citations
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January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
3 citations
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August 2018 in “Stem cells international” This study found that cultured hair follicle dermal cells support maintenance and potentially aid in the clinical application of pluripotent and haematopoietic stem cells.
1 citations
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August 2023 in “Nature communications” In this study, researchers found that Hdac1 and Hdac2 are crucial for maintaining the quiescence and survival of dermal papilla cells in the hair follicle, regulating the hair cycle by controlling cell-cycle genes and Wnt signaling.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
4 citations
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January 2022 in “Australasian Journal of Dermatology” This study found that serum HDAC1 levels are significantly higher in patients with alopecia areata compared to those with acne vulgaris and healthy controls, suggesting potential therapeutic opportunities for HDAC inhibitors.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
3 citations
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May 2015 in “Journal of The American Academy of Dermatology” Adalimumab significantly improves quality of life for patients with moderate to severe hidradenitis suppurativa.
52 citations
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November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
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.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
1 citations
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March 2019 in “KnE life sciences” This case report suggests that human dermal papillae conditioned media may accelerate wound healing in congenital aplasia cutis due to varicella infection.
4 citations
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January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
7 citations
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February 2012 in “Journal of cutaneous pathology” This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.
3 citations
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July 2023 in “International Journal of Biological Macromolecules” In this study, the researchers developed a hydrogel mimicking the fetal environment that significantly accelerated wound healing and hair follicle regeneration in vivo, with over 94% wound closure in 14 days, surpassing hydrogels lacking certain additives.
16 citations
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April 2024 in “Proceedings of the National Academy of Sciences” This study found that selectively targeting HDAC4 and HDAC7 in mice can reduce Th17 cell-mediated intestinal inflammation, suggesting a potential treatment approach for Th17-related inflammatory diseases like ulcerative colitis.
10 citations
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January 2013 in “Stem Cells and Development” This study suggests that dermal stem/progenitor cells can be enriched by intracellular granularity and display high proliferation and differentiation potential in vitro, distinguishing them from other fibroblasts and progenitors.
39 citations
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August 2022 in “Cell Death and Disease” This study found that a dopamine-methacrylated hyaluronic acid hydrogel enhances the efficacy of adipose-derived stem cells in promoting skin regeneration, potentially involving the Notch signaling pathway.
61 citations
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January 2013 in “International Journal of Biological Macromolecules” This study found that applying both dehydrothermal treatment and carbodiimide crosslinking improved the mechanical properties of porcine acellular dermal matrix scaffolds without added cytotoxicity, suggesting potential applications in tissue engineering.