December 2021 in “Figshare” This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.
In preclinical studies, topical CUR61414 reduced Hh signaling and shrank BCCs in mice, but this study found no clinical efficacy in human superficial or nodular BCCs.
12 citations
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May 2016 in “British Journal of Dermatology” This report describes a rare case of epidermolysis bullosa acquisita in a child developing during therapy with squaric acid dibutyl ester for alopecia areata, suggesting a possible link between the medication and disease onset.
September 2022 in “PubMed” Entadfi, a mix of finasteride and tadalafil, is used for BPH.
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.
4 citations
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July 2012 in “Linguistic Annotation Workshop” This study found that greater root surface area due to root hairs contributed to better growth and zinc uptake of wild-type barley compared to its root-hairless mutant in zinc-deficient soil.
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.
23 citations
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February 1979 in “Veterinary Clinics of North America: Small Animal Practice” This review discusses the physicochemical properties, binding mechanisms, and factors affecting corticosteroid-binding globulin (CBG) functions, but reports no new clinical results.
3 citations
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March 2019 in “Case Reports” This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.
10 citations
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April 2020 in “Clinics in Dermatology” This case report describes a girl in China with biotinidase deficiency confirmed by genetic mutations, whose skin and hair symptoms improved with biotin therapy.
5 citations
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September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
32 citations
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January 1971 in “Annals of Internal Medicine” This study observed that severe bronchitis may occur in individuals with anhidrotic ectodermal dysplasia when exposed to a dusty environment, potentially due to abnormalities in the bronchial mucosa.
September 2023 in “Journal of The American Academy of Dermatology” This announcement discusses the recent FDA approval of baricitinib for treating severe alopecia areata in adults and reports no new clinical results.
January 2026 in “Animals” This study researched the dun coat color in Mongolian horses, finding that variations in TBX3 expression in different skin areas are linked to Bider markings, suggesting TBX3's role in this specific pigment pattern, while further investigation is needed on its regulation.
September 2023 in “Journal of the American Academy of Dermatology”
October 2024 in “Journal of the Endocrine Society” This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.
August 2023 in “Dermatology reports” This case study of a 2-month-old boy with maple syrup urine disease highlights the dangers of restricting branched-chain amino acid intake, as it led to acrodermatitis dysmetabolica-like skin eruptions and hair loss, later resolved with careful dietary adjustments and monitoring.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
This study found that in beagles with benign prostate hyperplasia, finasteride treatment increased blood volume and decreased vessel leakiness in the prostate's parenchymal zone as shown by dynamic contrast-enhanced MRI.
89 citations
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January 2020 in “PubMed” This review discusses biotinidase deficiency, noting that biotin treatment from birth can prevent symptoms, but acknowledges the complexity and need for further understanding due to late-onset cases with varied clinical findings.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.
19 citations
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January 2020 in “Journal of Biophotonics” This study found that using a PEG-400/oleic acid mixture as an optical clearing agent enhanced the detection depth of particles in skin without causing dehydration, based on tests in rats and further testing in vivo.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.
7 citations
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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.
71 citations
,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This review discusses the role of Edar signaling in hair follicle development and cycling, emphasizing its impact on cell fate, differentiation, and interactions with other pathways, but reports no new results.
June 2025 in “Preprints.org” This review examines the complex role of the Ectodysplasin-A pathway in skeletal morphogenesis, emphasizing its interaction with other key signaling pathways, and reports no new experimental findings.
10 citations
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December 2021 in “Frontiers in Cell and Developmental Biology” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is essential for periodontal ligament homeostasis under occlusal hypofunction conditions.