43 citations
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April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
April 2019 in “Journal of Investigative Dermatology” In this study, engineered mice with a mutation similar to that in Olmsted syndrome showed progressive hair loss due to impaired inner root sheath keratinocyte differentiation and stem cell exhaustion.
May 2025 in “The Journal of Rheumatology” This case report highlights the importance of trans-esophageal echocardiography in distinguishing Libman-Sacks endocarditis from infective endocarditis in systemic lupus erythematosus patients, guiding appropriate treatment for associated cerebrovascular disease.
November 2024 in “Journal of Investigative Dermatology” Scalp hair follicle cells help protect and heal skin in certain skin conditions.
31 citations
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March 2018 in “Frontiers in Immunology” This article reviews the complexities and challenges in classifying systemic lupus erythematosus and the problematic role of the anti-dsDNA antibody as a biomarker, without presenting new experimental findings.
4 citations
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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.
18 citations
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November 2018 in “Annals of the Academy of Medicine Singapore” Sulfasalazine can cause severe allergic reactions leading to long-term autoimmune issues like hair loss and skin discoloration.
April 2023 in “Journal of Investigative Dermatology” In this study using a mouse model of Pemphigus vulgaris, researchers found that loss of desmoglein 3 adhesion in hair follicle stem cells triggers a regenerative program restoring stem cell function, requiring Hedgehog pathway suppression.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that skin organoids derived from iPSCs with an HS-associated NCSTN mutation showed defects in hair follicle stem cell differentiation and increased expression of inflammatory proteins related to hidradenitis suppurativa.
2 citations
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December 2017 in “Skin appendage disorders” An elderly man's non-healing scalp lesion was successfully treated with a strong topical steroid.
40 citations
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June 2013 in “Molecular Pharmaceutics” This study demonstrates that transfected epidermal stem cells using a novel 3D transfection system significantly enhanced wound healing and may serve as an effective therapeutic agent and gene delivery method for wound treatment.
3 citations
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June 2004 in “Työväentutkimus Vuosikirja” This article reviews the roles of several signaling pathways and molecules, including FGFs, Hh, Notch, TGF, and Wnt, in the development of teeth and hair follicles, but reports no new findings.
This study explores the expression and function of 11β-HSD1 in human hair follicles and its potential regulation of glucocorticoid effects on dermal papilla cells, but reports no definitive findings on 11β-HSD1's role.
7 citations
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June 2022 in “Frontiers in Medicine” This review discusses the potential of adipose-derived stem cell extracellular vesicles (ADSC-EVs) in skin regeneration, highlighting mechanisms like inflammation and angiogenesis, but reports no new clinical results; challenges and future prospects are also considered.
This study found that super-enhancers play a crucial role in driving malignant progression in squamous cell carcinoma stem cells through a regulatory network involving ETS2 transcription factors, highlighting the potential link between high ETS2 levels and poor patient outcomes in head and neck cancers.
April 2023 in “Journal of Investigative Dermatology” This study demonstrated that the Epidermal Biopotential Sensing System (EBSS) can measure digital biomarkers of pain in mice, suggesting potential applications in assessing pain and screening analgesics in populations with communication difficulties.
36 citations
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February 2018 in “British Journal of Dermatology” In this study, researchers found that eccrine sweat glands in human scalp skin are morphologically integrated into the pilosebaceous unit, suggesting they form a common homeostatic tissue environment with adjacent structures.
67 citations
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January 1992 in “Journal of Investigative Dermatology” January 2026 in “Biomaterials”
18 citations
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August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the Polycomb Repressive Complex 2, particularly its component Ezh2, is crucial in regulating dermal fibroblast differentiation and epidermal keratinocyte proliferation during murine skin development.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
5 citations
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November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
March 2023 in “Scientific reports” This study presents evidence that hair matrix progenitors and the enzyme Stearoyl CoA Desaturase 1 may play a role in maintaining the dermal papilla niche via autocrine Wnt and paracrine Hedgehog signaling in mice.
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.
1 citations
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September 2023 in “International Journal of Women’s Dermatology” This article discusses the teratogenic risks of skin condition treatments for individuals with DSD and notes that testosterone replacement, often used in this population, may cause acne.
April 2021 in “Journal of Investigative Dermatology” Early-stage skin substitutes improve wound healing and skin structure.
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
34 citations
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May 2021 in “Journal of Nanobiotechnology” This study found that electrospun short fibrous sponges effectively mimic the 3D extracellular matrix, promoting tissue regeneration, angiogenesis, and wound healing in diabetic rats better than 2D fiber membranes.