April 2019 in “Journal of Investigative Dermatology” This study found that induced COX-2 expression in adult transgenic mice led to hair follicle miniaturization and enlargement of sebaceous glands, and suggests that targeting the PGD2 pathway might reverse these effects.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
January 2025 in “Cell Communication and Signaling” This study reviews the role of the zinc finger protein CXXC5 in cellular signaling and its implications for cancer, discussing how its dysregulation is linked to various physiological and pathological processes, as well as potential therapies targeting CXXC5.
6 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.
April 2018 in “Journal of Investigative Dermatology” This study found that ERBB2 mutations and amplifications are likely key drivers of extramammary Paget disease, suggesting potential for targeted therapies and cancer immunotherapy due to the moderately high mutational load observed.
October 2014 in “Archives of Disease in Childhood” This case study reported that growth hormone therapy dramatically improved rickets symptoms and growth in three children with vitamin-D dependent rickets type 2 who had not responded to standard treatments.
2 citations
,
June 2019 in “The Journal of Dermatology” This report describes two cases of aplasia cutis congenita with hair collar signs and hemangioma, which may suggest neural tube defects, although imaging showed no bone or neural tissue abnormalities.
October 2025 in “Dermatology Practical & Conceptual” In this study, UVFD and sUVRD techniques revealed distinctive characteristics of GD lesions, suggesting that GD might be more common in younger individuals and females than previously thought, possibly due to underdiagnosis. Incorporating dermatoscopy in exams may help improve GD detection and management.
48 citations
,
October 2004 in “Molecular and Cellular Biology” In this study, Brca1(S971A/S971A) mice showed a moderately increased risk of spontaneous tumor formation and defects in DNA damage response, suggesting CHK2 phosphorylation of BRCA1 is crucial for tumor suppression.
9 citations
,
March 2022 in “Journal of Chemical Information and Modeling” This study identified a series of novel β-glucuronidase inhibitors that may help mitigate adverse effects of first-line anti-cancer drugs by targeting gut bacteria, based on virtual high-throughput screening findings.
14 citations
,
May 2022 in “Cell Reports” In this study, researchers found that basal cell carcinomas with common Hedgehog signaling mutations may require additional mutations to hyperactivate downstream signaling and progress beyond dormancy.
14 citations
,
March 2016 in “Mechanisms of Development” This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.
11 citations
,
January 2018 in “Acta dermato-venereologica” In this study, researchers identified gremilin-2 as a highly specific gene to the dermal sheath cup, suggesting it plays a key role in maintaining its properties.
92 citations
,
May 2004 in “Journal of Investigative Dermatology”
8 citations
,
May 2019 in “Journal of dermatological treatment” This study found that vismodegib was effective in treating basal cell carcinoma, achieving complete remission in some patients; however, significant side effects often required careful management to prevent therapy suspension, which can lead to resistance.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
3 citations
,
April 2020 in “PubMed” This study found that DEB-BACE combined with systemic chemotherapy was more effective than chemotherapy alone for unresectable lung squamous cell carcinoma, reducing side effects and improving survival rates.
60 citations
,
September 2023 in “Science” This study found that the restoration of CD103⁺γδ T cells in humans is associated with sustained remission in inflammatory bowel disease, suggesting a conserved role for these cells in limiting disease progression.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
6 citations
,
March 2022 in “IET Image Processing” This study utilized ultrasound biomicroscopy to evaluate the anterior chamber in angle closure glaucoma patients, revealing that the anterior chamber angle is wider on the downside than the upside and identifying important parameters for potential laser surgery.
59 citations
,
January 2010 in “International Journal of Pediatric Endocrinology” This review discusses the pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency and provides no new clinical results.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
January 2026 in “Pediatrics International” This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.
February 2026 in “Oncology Reviews” This review highlights the promising clinical outcomes of sacituzumab tirumotecan (sac-TMT), an antibody-drug conjugate for breast cancer that targets TROP2, demonstrating improved response rates and progression-free survival, with manageable safety concerns including primarily mild-to-moderate nausea and alopecia.
4 citations
,
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.
3 citations
,
July 2017 in “Journal of Molecular Graphics & Modelling” This study analyzed the geometric and electronic properties of baicalin conformers, finding that BCLa2TT and BCLa1TT conformers exhibit high stability in aqueous solutions and are favorable for interactions with positively charged species.
January 2025 in “Dermatology Review” In this case report, a 57-year-old man with chronic myelogenous leukemia developed a large, rapidly growing giant keratoacanthoma, highlighting the diagnostic challenges it poses compared to cutaneous squamous cell carcinoma, with surgical excision identified as the preferred treatment.
July 2025 in “Dermatologica Sinica” In this study, compound glycyrrhizin promoted hair regrowth in a testosterone-induced alopecia mouse model and increased human hair dermal papilla cell proliferation, likely through activating the Wnt/β-catenin pathway.
January 2026 in “Therapeutics” This study found that SCUBE3 protein is upregulated in various cancers, promoting tumor growth and poor outcomes, while suppressing growth in renal cell carcinoma, and may serve as a diagnostic marker and potential therapeutic target for several diseases due to its secreted nature.