46 citations
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May 2021 in “Stem Cell Research & Therapy” This study found that strontium ranelate promotes cartilage regeneration in rats by enhancing chondrogenic differentiation of bone mesenchymal stem cells while inhibiting the Wnt/β-catenin signaling pathway.
21 citations
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January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.
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.
April 2024 in “Current Rheumatology Reviews” This case report describes an 8-year-old girl with Mixed Connective Tissue Disease who experienced remission after treatment with immunomodulator drugs, highlighting the diagnostic value of anti-U1 RNP antibody testing in children.
November 2015 in “Journal of the Korea Academia-Industrial cooperation Society” This study established a stable cell line for CRF1 receptor screening, which can be used to develop functional cosmetics and modulators potentially affecting hair re-growth.
March 2021 in “Research Square (Research Square)” This study found that strontium ranelate may promote cartilage regeneration by enhancing chondrogenic differentiation and inhibiting the Wnt/β-catenin signaling pathway in rat models of cartilage defects.
3 citations
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October 2024 in “Experimental Dermatology” This study found that patients with alopecia areata exhibited increased CRHR1 expression on circulating monocytes compared to controls, suggesting that stress-related factors like CRH and CRHR1 may contribute to the development and progression of the condition, particularly in chronic cases and those with larger lesions.
April 2026 in “Regenerative Medicine” This source does not report specific results but compiles information on recent advancements in Advanced Therapy Medicinal Products and regenerative medicine from non-academic sources as of March 2026.
March 2025 in “Archives of Dermatological Research” This study found that combined microneedling with minoxidil significantly improved hair count and diameter in patients with androgenetic alopecia, although more mild adverse events were reported compared to minoxidil alone.
2 citations
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February 2024 in “Journal of the European Academy of Dermatology and Venereology” This study resulted in a draft version of the Patient‐Reported Impact of Dermatological Diseases measure, PRIDD, which includes 27 items refined from patient consensus and is now undergoing psychometric testing.
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.
9 citations
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June 2013 in “Australasian Journal of Dermatology” This case study reports on an adult with metastatic Crohn's disease treated with infliximab over 4.5 years, providing valuable follow-up data in this context.
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.
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.
2 citations
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October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
11 citations
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January 2009 in “World Journal of Gastroenterology” This study reports the first documented case of Cronkhite-Canada syndrome in a patient with myelodysplastic syndrome, where corticosteroids dramatically improved the patient's condition.
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.
57 citations
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August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
7 citations
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June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
January 2016 in “e-Oftalmo CBO Revista Digital de Oftalmologia” This review discusses central serous chorioretinopathy, detailing its etiology, associated factors, diagnostic imaging, and therapeutic options, but provides no new clinical findings.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
1 citations
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September 2021 in “Cureus” This study found that the rs1128977 SNP in the RXRG gene may be linked to altered clinical characteristics such as higher HDL-cholesterol levels and increased body mass index in individuals with dyslipidemia.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This study defines two types of RDEB wounds, chronic open and recurrent, and finds that patient self-reports on wound size correlate well with investigator measurements when complemented by serial photography.
5 citations
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September 2022 in “Antioxidants” This study found that the clionasterol-rich hexane fraction of Caulerpa racemosa may protect against particulate matter-induced skin damage by reducing oxidative stress and mitochondrial-mediated apoptosis in human keratinocytes and zebrafish.
6 citations
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December 2015 in “Medicine” This review discusses Cronkhite-Canada syndrome, highlighting a relatively mild case and suggesting that it may be a more benign and possibly reversible condition with treatment, but reports no new clinical results.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.