5 citations
,
September 2022 in “Molecular pharmacology” This article reviews current knowledge on KATP channel drug binding modes through cryogenic electron microscopy, highlighting distinct binding sites in the sulfonylurea receptor and potential mechanisms of drug action, but reports no new experimental results.
6 citations
,
September 2019 in “Skin pharmacology and physiology” This study found that RCS-01 cell therapy for aged skin was well tolerated and associated with increased gene expression related to extracellular matrix homeostasis, suggesting potential skin improvement.
This review discusses advancements in regenerative medicine for hair loss treatments, highlighting stem cell techniques for rejuvenating or creating hair follicles, but provides no new clinical results.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
June 2024 in “British Journal of Dermatology” This report detailed the British Hair and Nail Society's national grand round, which aids in diagnosing and treating complex hair disorders, showcasing rare diagnoses and suggesting novel therapies.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
October 2024 in “Endocrinology Insights” In this study, researchers found that both the EU-TIRADS and Bethesda systems exhibited high specificity but suboptimal sensitivity for predicting thyroid nodule malignancy in patients who underwent surgery, with Bethesda system showing particularly high specificity in this postoperative population.
June 2024 in “British Journal of Dermatology” This review by the British Hair and Nail Society reported that their national grand round for complex hair disorders has led to diagnosis changes in 38% of cases and has suggested novel treatments, emphasizing its role in aiding complex diagnostic and therapeutic decisions.
33 citations
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May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
14 citations
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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.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
10 citations
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January 1992 in “Screening” This study concluded that newborn screening for biotinidase deficiency effectively identified cases and likely prevented irreversible complications from the disorder in some infants.
2 citations
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July 2023 in “International Journal of Molecular Sciences” This study found that applying a formulation derived from Bacopa procumbens significantly promoted hair growth, pigmentation, and follicular cycle acceleration in mice compared to minoxidil, potentially offering a new therapeutic approach for hair health.
2 citations
,
July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
64 citations
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October 2018 in “Thérapie” This report describes the enhancement of the French SNIIRAM/SNDS healthcare database through external data linkages, highlighting its potential use in medical research despite complexities in the integration process.
December 2021 in “Figshare” This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
16 citations
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March 2011 in “Ophthalmic genetics” This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.
4 citations
,
March 1999 in “International Journal of STD & AIDS” This report details a case of severe recurrent bacterial vaginosis in a woman with Netherton's syndrome.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
7 citations
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September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
December 2021 in “Figshare” This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.
9 citations
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March 2022 in “Journal of radiation research” This study identified specific profiles and courses of adverse events associated with boron neutron capture therapy for head and neck cancer, suggesting differences based on the beam incidence site.
December 2025 in “Clinical Case Reports” In this study, researchers reported that dermoscopic examination of eyebrow hairs can help in the early diagnosis of Netherton syndrome in children by detecting trichorrhexis invaginata, facilitating prompt counseling and care while awaiting genetic test results.
1 citations
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January 2020 in “British Journal of Dermatology” This article reviews the centenary of the British Association of Dermatologists by highlighting significant papers from its journals, with no new clinical results reported.
41 citations
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July 2016 in “Journal of Investigative Dermatology” This study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.
This study found that pediatric alopecia areata patients had significantly lower serum BDNF levels compared to healthy controls, which were associated with greater alopecia severity, higher depressive symptoms, and poorer quality of life.
December 2021 in “Figshare” This study found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.