24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
32 citations
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April 2020 in “PLoS Biology” This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.
January 2024 in “Clinical, cosmetic and investigational dermatology” In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
12 citations
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January 2013 in “Indian dermatology online journal” This case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.
2 citations
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December 2021 This study found that the observed isotropic ss-ECD spectrum of finasteride is influenced by the anisotropy of locally oriented crystals, offering new possibilities for analyzing solid-state chiral materials.
4 citations
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January 2021 in “Journal of Clinical Medical Research” This review provides an in-depth analysis of the structure and function of c-kit activation, and its role in both normal physiological and pathological conditions, with no new research findings reported.
1 citations
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November 2025 in “International Journal of Clinical Pharmacy” This study confirms known risks of cladribine and reveals potential new safety concerns, emphasizing the need for careful monitoring for early acute toxicity.
50 citations
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February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
5 citations
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January 2020 in “Wiadomości lekarskie (Warsaw Poland)” This study found that patients with GERD and UCTD have significantly more frequent phenotypic and visceral markers than those with GERD alone, which should inform early diagnostic and treatment strategies.
5 citations
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May 2008 in “Annals of saudi medicine/Annals of Saudi medicine” This case report from India observed that short-term cabergoline treatment brought clinical and biochemical remission in a 12-year-old with persistent Cushing disease after surgery and radiotherapy.
29 citations
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January 2010 in “Methods in Enzymology” This review discusses five genetic fate mapping methods used to study cell behaviors during development and regeneration, detailing the necessary tools and considerations without reporting new experimental results.
19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
July 2025 in “The Journal of Dermatology” This study identified common and unexpected adverse events associated with ritlecitinib in real-world use, providing insights into its safety profile for treating severe alopecia areata.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
3 citations
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October 2019 in “EMBO molecular medicine” This study reports that the nuclear receptor co-repressor 1 (NCoR1) inhibits cardiac hypertrophy by stabilizing the MEF2 and class II HDACs complex, potentially offering a target for new therapies.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This report presents a case of Cronkhite-Canada syndrome in an elderly Indian male, adding to the approximately 450 cases documented worldwide, but introduces no new results about the condition.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
June 2025 in “Acta Dermato Venereologica” Low-dose Ritlecitinib may help children with stubborn Alopecia Areata.
May 2025 in “CPT Pharmacometrics & Systems Pharmacology” This study examined the safety profile of ritlecitinib, a drug for alopecia areata, and found that it does not cause significant QTc prolongation or severe lymphopenia, with no unique safety risks expected in adolescents.
9 citations
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October 2022 in “Nature Communications” In this study, researchers developed a new photoactivatable Cre recombinase mouse model, DiLiCre, which allows precise light-induced genetic modifications and cell tracing, demonstrating its effectiveness for advancing biological and biomedical research.
January 1993 in “Claves de razón práctica” This study found that ROR2 plays a crucial role in the regulation of hair follicle stem cell self-renewal and maintenance, particularly by compensating for the absence of β-catenin.
41 citations
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April 2016 in “Journal of experimental botany” This research suggests that the barley protein RACB supports cell polarity functions rather than interfering with immunity, as it aids nucleus positioning during fungal attack rather than affecting early immune responses.
52 citations
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August 1993 in “Clinical endocrinology” This study found that intravenous high dose calcium infusions followed by high dose oral calcium effectively treated vitamin D dependent rickets type II, leading to complete biochemical and radiological healing and improved growth in two patients.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
16 citations
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August 2022 in “Nature Communications” In this study, researchers discovered that ROR2, a Wnt receptor, plays a crucial role in regulating hair follicle stem cell self-renewal and maintenance, compensating for the absence of β-catenin.
23 citations
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October 2015 in “Plastic and reconstructive surgery/PSEF CD journals” This article reviews the author's experience and favored techniques for using Radiesse in cosmetic treatments but reports no new clinical trial results.
3 citations
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July 2025 in “Clinical and Experimental Dermatology” This study reported that patients with alopecia areata treated with ritlecitinib in a real-life setting had a higher rate of positive response on the Severity of Alopecia Tool score compared to those in the ALLEGRO trial.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.