January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
34 citations
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July 2011 in “International journal of pharmaceutics” This study found that ion-paired solutions significantly improved the skin penetration of risedronate in hairless mice compared to risedronate alone.
1 citations
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July 2024 in “JCEM Case Reports” This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.
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.
11 citations
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April 2023 in “Annals of General Psychiatry” This study found that males treated with serotonergic antidepressants had an increased risk of erectile dysfunction, with an adjusted odds ratio of 3.2, and the risk for post-SSRI sexual dysfunction was 0.46%, emphasizing the importance of informed consent due to these potential irreversible side effects.
April 2018 in “Journal of Investigative Dermatology” In laboratory models of human skin, this study found that treating with resveratrol significantly increased glutathione levels, potentially enhancing the skin's antioxidant defenses.
1 citations
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December 2019 in “Frontiers in endocrinology” This study found that high prepubertal and pubertal androgen levels, originating from both adrenal and gonadal secretion, were negatively associated with adult height outcomes in males with Silver-Russell syndrome.
2 citations
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November 2023 in “Skin Research and Technology” This study found that RCM combined with dermoscopy can differentiate disease states between alopecia areata, tinea capitis, nevus sebaceous, and linear scleroderma of the scalp by identifying distinct dermal and follicular patterns.
April 2023 in “Journal of Investigative Dermatology” This study found variation in erythema induction across skin types, suggesting different SSR dose responses and highlighting a potential model for tailoring anti-inflammatory treatments.
November 2025 in “Frontiers in Immunology” In this study, researchers found significant links between specific metabolic reprogramming-related genes and alopecia areata risk, highlighting increased SQSTM1 expression in affected hair follicles compared to healthy ones.
November 2025 in “Figshare” In this study, six metabolic reprogramming-related genes, including SQSTM1, were significantly associated with alopecia areata, with elevated SQSTM1 mRNA and protein levels observed in affected hair follicles compared to healthy controls.
25 citations
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November 2010 in “Journal of Molecular Structure” This preliminary study suggests that Raman micro-spectroscopy can help differentiate basal cell carcinoma from hair follicles in skin tissue sections, although some misclassification of hair follicles as carcinoma was observed.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” In this study, total Sry transcript expression in various rat tissues was linked to Acsl3 expression, suggesting that Sry may play a role in regulating fatty acid metabolism.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
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.
17 citations
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May 2016 in “Archives of Dermatological Research” This study identified specific reflectance confocal microscopy features that help differentiate scarring from non-scarring alopecia, providing a non-invasive diagnostic tool.
5 citations
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July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
28 citations
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February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” This clinical letter identifies Rothmund-Thomson syndrome type 2 as a rare cause of chronic wounds, but provides no new experimental findings.
March 2025 in “Journal of Investigative Dermatology”
In this study, radial shockwave therapy significantly improved muscle spasticity, ankle range of motion, and functional abilities in children with spastic cerebral palsy, suggesting it may help them achieve greater autonomy in daily activities.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.
2 citations
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June 2024 in “Frontiers in Plant Science” This study found that RALF peptides, through liquid-liquid phase separation, form condensates with pectin and other proteins, playing a pivotal role in plant development and stress response regulation.
36 citations
,
January 2023 in “Skin Appendage Disorders” This review discusses the etiology, pathophysiology, trichoscopic characteristics, differential diagnoses, and treatment options for scalp seborrheic dermatitis, without providing new clinical findings.
5 citations
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November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
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
,
January 2008 in “International Journal of Neuroscience” This article presents a case of delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old man and reviews clinical and laboratory findings associated with the disorder, reporting no new results.
43 citations
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April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
25 citations
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December 2008 in “Journal of Dermatological Case Reports” In this study, R-CSLM showed promise in evaluating hair shaft diseases by providing high-quality images of hair structures, although further development is necessary for follicle and perifollicular area analysis.