8 citations
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January 1991 in “Soviet physics. Doklady” This article suggests that testosterone therapy might be considered if other treatments fail, but emphasizes discussing potential risks and benefits with patients before prescribing.
8 citations
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July 2018 in “Analytical sciences” This study reported that derivatization with 5-butylpicolinic acid improved the sensitivity for detecting testosterone and DHT in saliva using LC-ESI-MS/MS, with minimal interference from the saliva matrix.
215 citations
,
November 2000 in “Journal of Investigative Dermatology” This study found that the tetracycline-regulated transcription system effectively controls conditional gene expression in the mouse epidermis, allowing suppression and activation of specific genes with doxycycline.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
32 citations
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August 2016 in “Science Signaling” This study developed PiSCES biosignatures that distinguished alopecia areata patients from controls, revealing enhanced basal TCR signaling and a potential disease-specific signaling network signature.
April 2026 in “Future Medicinal Chemistry” This article discusses the impact of PROTACs technology in transforming drug discovery with its novel degradation mechanism, but it reports no new experimental findings.
70 citations
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February 2009 in “Biological Trace Element Research”
16 citations
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January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
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.
September 2023 in “Journal of the American Academy of Dermatology” CTP-543 is generally safe for treating alopecia areata.
1 citations
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November 2001 in “Acc Current Journal Review” This review found that 5α‐reductase inhibitors were associated with slightly increased rates of decreased libido, erectile and ejaculatory dysfunction, gynecomastia, and mood disorders compared to placebo, though their long-term effects remain unclear.
11 citations
,
March 2024 in “Cell and Tissue Research” In this review, researchers summarize the methods for characterizing telocytes, outline their physiological roles and implications in diseases, and discuss potential future studies including precise markers and targeted therapies.
1 citations
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April 2022 in “The Journal of Urology” This study observed that discontinuation rates due to side effects were similar for penicillamine and tiopronin among cystinuria patients, and switching to the alternative agent was beneficial for half of those experiencing issues.
9 citations
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October 2025 in “MedComm” This review discusses the development and clinical progression of PROTAC technology for targeted protein degradation, highlighting its potential to address previously "undruggable" targets but reports no new clinical results.
January 2022 in “International review of movement disorders” In this review, the authors found that cannabinoids and steroid-related drugs show potential for treating Tourette syndrome, but existing evidence is limited and further research is needed to confirm their efficacy and safety.
October 2019 in “European heart journal” This study found that androgen deprivation therapy is associated with an increased risk of acquired long-QT syndrome and Torsades de Pointes, particularly highlighting enzalutamide's greater association with sudden death compared to other therapies.
40 citations
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July 2023 in “Clinical Pharmacology & Therapeutics” This review discusses the progress and challenges of targeted protein degradation therapies, highlighting the increasing number of degraders in cancer clinical trials and the limited diversity in targeted proteins, primarily focusing on those employing CRL4CRBN as the E3 ligase.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
9 citations
,
January 2012 in “International journal of trichology” This case report suggests that Trichostasis spinulosa should be considered in diagnosing treatment-resistant open comedone-like lesions and that skin surface biopsy might be an effective diagnostic method.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
February 2026 in “Frontiers in Medicine” In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.
This article lists the clinically important interactions and skin reactions of several drugs and substances, including THA, FK506, tamoxifen, tamsulosin, tartrazine, tea tree oil, temazepam, and temozolomide, but provides no new clinical results.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
January 2026 in “Indian Journal of Dermatopathology and Diagnostic Dermatology” This report highlights a case where dermoscopic observation of corkscrew hairs in a young woman led to the diagnosis of trichotillomania, emphasizing its role in distinguishing this psychiatric disorder from other forms of non-scarring alopecia and highlighting the importance of timely intervention.
3 citations
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May 2018 in “Psychiatry and Clinical Psychopharmacology” In this report, an 18-year-old female with trichotillomania was successfully treated using the glutamate modulator n-acetylcysteine.
1 citations
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April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” This study identified gene sets associated with Tourette Syndrome, implicating Ligand-gated Ion Channel Signaling, Lymphocytic, and Cell Adhesion and Trans-synaptic Signaling processes in the disorder's neurobiology.
8 citations
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January 2014 in “Indian Dermatology Online Journal” This article presents a case of trichostasis spinulosa, a common but often unrecognized disorder, diagnosed through dermoscopic examination of black macules revealing bundled vellus hairs, with the patient declining treatment.