June 2018 in “Surgical Case Reports” S-1 treatment led to a complete response in pancreatic cancer with manageable side effects.
In this retrospective case series, therapeutic responses to immunomodulatory and incretin-based therapies for Dercum's disease showed considerable individual variation, suggesting these treatments might be exploratory options when surgery isn't feasible, though further controlled studies are needed for definitive conclusions.
1 citations
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April 2023 in “Heliyon” In this study, a 68-year-old man with muscle-invasive bladder cancer and renal insufficiency achieved a partial radiological response to neoadjuvant therapy with gemcitabine and Disitamab Vedotin, without significant adverse events, highlighting a potential alternative for cisplatin-ineligible patients.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
9 citations
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December 2023 in “Journal of Neuroimmune Pharmacology” This study found that systemic administration of NDP-MSH, a melanocortin receptor agonist, provided neuroprotective effects on dopaminergic nigrostriatal neurons in a mouse model of Parkinson's disease, reducing neuroinflammation and suggesting a role for regulatory T cells in these neuroprotective effects.
5 citations
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the deletion of Med1 in dental epithelia causes a shift from dental to hair tissue development, suggesting the importance of Med1 in maintaining tissue-specific lineage.
November 2025 in “Journal of Investigative Dermatology” Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
August 2025 in “Therapeutics” In this study, low concentrations of DMSO were found to decrease androgen receptor expression and inhibit the migration of prostate cancer cells, suggesting potential as an anticancer therapy.
95 citations
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September 2019 in “Brain” In this study, two patients with refractory juvenile dermatomyositis improved clinically and in disease activity after receiving the JAK inhibitor tofacitinib, showing potential effects in managing the condition.
5 citations
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January 1998 in “Clinical and experimental dermatology” This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.
29 citations
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October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
3 citations
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April 2025 in “Science Advances” This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.
September 2013 in “Metal Powder Report” This study found that dihydrotestosterone induces hair loss in male C57BL/6 mice, and this effect can be partially reversed by the androgen receptor antagonist bicalutamide.
28 citations
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September 2014 in “Journal of Veterinary Internal Medicine” This study found that the novel drug VDC-1101 showed a 45% objective response rate in treating canine cutaneous T-cell lymphoma, offering a potential treatment option for this challenging disease.
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.
June 2024 in “British Journal of Dermatology” In this prospective observational study of 96 dermatomyositis patients, 47 showed scalp involvement, with significant symptoms like scalp inflammation, itching, and hair loss linked to myositis-specific antibodies. The study highlighted unique dermatopathological features in the scalp and emphasized the considerable morbidity caused by scalp dermatomyositis.
26 citations
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April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
July 2025 in “Journal of Investigative Dermatology” M1 homeopathic complex may help slow melanoma cell growth.
April 2010 in “Cancer Research” This study suggests that Mcl-1 has a non-apoptotic role in promoting keratinocyte proliferation and Wnt/β-catenin signaling, potentially indicating a novel oncogenic activity.
February 2022 in “Mediators of Inflammation” This study found that reduced plasma DIAPH1 levels were associated with polycystic ovary syndrome, suggesting DIAPH1 as a potential predictive factor for the condition.
147 citations
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October 2021 in “Cancer Communications” This study found that the novel anti-HER2 antibody RC48 demonstrated promising activity and manageable safety in patients with HER2-overexpressing, advanced gastric or gastroesophageal junction cancer after at least two prior chemotherapy lines.
January 2026 in “Annals of Pathology and Laboratory Medicine” In this case report, a 27-year-old woman with a swelling on her neck was initially misdiagnosed with squamous cell carcinoma, but was later identified as having pilomatrix carcinoma with lymph node metastasis, highlighting the importance of accurate diagnosis for effective treatment and prognosis improvement.
June 2025 in “Clinical Cancer Research” In this case report, researchers observed that scalp cooling during chemotherapy with doxorubicin and cyclophosphamide allowed a pregnant breast cancer patient to preserve nearly all her hair, suggesting such treatment may be a safe and effective option for managing chemotherapy-related hair loss during pregnancy.
3 citations
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December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
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.
195 citations
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November 2001 in “The Journal of Cell Biology” This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.
April 2018 in “Journal of Investigative Dermatology” This study suggests that for dermatomyositis patients with minimal skin disease activity, further improvement in cutaneous symptoms may not translate into better quality of life, highlighting a need to revise trial endpoints.
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.
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.