January 2007 in “Revista del Centro Dermatológico Pascua” This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.
This review discusses the potential conflicts of interest and quality concerns associated with direct-to-consumer teledermatology platforms and reports no new experimental results.
11 citations
,
January 1989 This case report describes two patients with trichothiodystrophy who exhibited a different pattern of hair protein composition changes, suggesting a subgroup of TTD characterized by partial loss of high-sulfur proteins without significant alteration in their amino acid composition.
3 citations
,
August 2023 in “Drug safety” This source reports that trastuzumab deruxtecan improves outcomes in HER2-positive and HER2-low metastatic breast cancer, emphasizing the need for careful adverse event monitoring, particularly for interstitial lung disease, and managing emetic risk to maximize benefits.
17 citations
,
September 2009 in “British Journal of Dermatology” This study suggests that clinically apparent fragile hair in children is rarely linked to trichothiodystrophy, and the tiger-tail pattern is not wholly specific to this diagnosis.
10 citations
,
January 1997 in “Dermatology” This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.
33 citations
,
December 2005 in “British Journal of Clinical Pharmacology” This study found that the Transdermal Delivery System efficiently delivers testosterone systemically and showed bioequivalent hormone concentrations to a known topical gel in healthy males.
45 citations
,
March 1997 in “Journal of Investigative Dermatology” TCDD changes skin gene expression and may harm skin health.
8 citations
,
July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
135 citations
,
October 1997 in “Journal of biological chemistry/The Journal of biological chemistry” This study suggests that trichohyalin is modified by peptidyl-arginine deiminase before being cross-linked by TGase 3, allowing the formation of rigid structures in hair follicle cells.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
33 citations
,
February 1990 in “Journal of the American Academy of Dermatology” Topical cyclosporine led to significant hair growth in some men with male pattern baldness.
30 citations
,
May 2020 in “Forensic Science International Genetics” This study found that optimizing proteomic genotyping conditions from single human hair samples significantly improves the detection of genetically variant peptides, enhancing human identification with high precision across different biogeographic backgrounds.
13 citations
,
February 2019 in “Türk oftalmoloji dergisi” This review discusses various treatment options for chronic central serous chorioretinopathy, evaluating studies conducted since 2000, but reports no new clinical results.
5 citations
,
September 2018 in “International journal of genomics” This study found that keratin damage in mammals and birds can result from N-homocysteinylation, reducing keratin solubility and indicating significant protein modification through genetic or nutritional disruptions in homocysteine metabolism.
This animal study found that YH0618 may alleviate doxorubicin-induced alopecia and affects proteins like keratin and Smad3, suggesting potential therapeutic targets. The researchers analyzed protein expression changes to understand YH0618's effects in treating chemotherapy-related hair loss.
13 citations
,
July 2012 in “International Journal of Trichology” In this study, the varied phenotype of trichothiodystrophy was highlighted, with findings of distinctive hair shaft abnormalities and a wide range of multisystem issues, including neurologic and urologic disorders.
12 citations
,
January 1987 in “Carcinogenesis” This study found that a single application of TCDD on the skin of hairless mice altered epidermal differentiation, changing keratin expression patterns similarly to a known tumor promoter.
3 citations
,
January 2009 in “Sen'i Gakkaishi” This study found that using a bicomponent reduction system with TGA and DTDG for hair straightening limited hair damage by forming only thiol groups, while a TGA-only system formed more damaging mixed disulfide groups.
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.
22 citations
,
November 2016 in “International journal of molecular sciences” This study suggests that impaired VDR signaling in mice leads to dysregulated Ddit4 expression, impacting hair cycle progression and wound healing.
2 citations
,
July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.
37 citations
,
May 2003 in “Journal of Consumer Marketing” This review discusses consumers' positive attitudes towards direct-to-consumer pharmaceutical advertising, highlighting its impact on patient engagement despite physicians' mixed opinions on its influence on the doctor-patient relationship.
5 citations
,
June 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that applying topical thymidine dinucleotide (pTT) to newborn mice before UV exposure delayed and reduced melanoma development compared to untreated controls.
3 citations
,
January 2018 in “Frontiers in bioscience” This retrospective analysis reported significant increases in testosterone levels in men with testosterone deficiency using the Daily Subcutaneous Testosterone method combined with hCG and anastrozole, indicating its potential as a treatment option.
September 2025 in “JMIR Dermatology” This narrative review reported that direct-to-consumer teledermatology improves access to care, adherence, and patient satisfaction for treating male androgenetic alopecia, but may lead to higher drug costs.
7 citations
,
April 2022 in “Cutis” This article discusses the rise of direct-to-consumer teledermatology platforms, warning that they might cause overdiagnosis, overtreatment, and fragmented healthcare, and emphasizes the need for patient counseling about these risks and benefits.
2 citations
,
September 2024 in “PLoS ONE” This study suggests that combining bendamustine with tucidinostat may improve survival in patients with relapsed or refractory adult T-cell leukemia/lymphoma, highlighting its potential for clinical investigation.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses the transformative potential of direct-to-consumer (DTC) hair regrowth solutions and reports no clinical results; it emphasizes innovation, personalization, and trust in reshaping the industry.