January 2020 in “Research Portal Denmark” This study concludes that anti-androgenic chemicals causing short anogenital distance in male fetuses also induce a feminized transcriptional profile in the perineum, implicating Wnt and estrogen signaling in the process.
May 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that circulating testosterone affects baseline sex differences in voiding function in C57BL/6J mice, with prostate lobe mass having a lesser impact.
This study found considerable variation in hair shaft proteomic profiles among Caucasian, African-American, Kenyan, and Korean subjects, with individual and site-specific differences observed.
This study used proteomic profiling to reveal significant individual and site-specific differences in human hair shaft proteins, which may improve the differentiation of hair based on ethnic origin and individual identity.
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.
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.
January 2013 in “International Journal of Trichology” This case report describes a young girl with trichothiodystrophy and suggests the need for early diagnosis and multidisciplinary interventions for her educational challenges.
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.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
188 citations
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June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
7 citations
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November 1997 in “Pediatric Dermatology” This case report identifies an association between trichothiodystrophy and a urologic malformation with primary hypercalciuria, adding to the spectrum of TTD-related abnormalities.
7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
2 citations
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January 2018 in “International Journal of Trichology” This case report describes trichothiodystrophy in two sisters with only hair fragility, illustrating the condition's variable presentation and the importance of regular monitoring for potential associated impairments.
17 citations
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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.
21 citations
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May 2014 in “Toxicological Sciences” This study found that skin exposure to toluene diisocyanate in mice creates immune-recognition reservoirs in the skin's stratum corneum and hair follicles, potentially leading to sensitization and allergic reactions.
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.
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.
4 citations
,
March 2022 in “Journal of The American Academy of Dermatology” Direct-to-consumer teledermatology is not effectively reaching underserved populations due to language, technology, and insurance barriers.
71 citations
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May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that trichothiodystrophy hair brittleness is linked to abnormalities in sulfur content and structural organization, making it prone to breakage.
1 citations
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May 2019 in “Cytotherapy” This study found that digital droplet PCR (ddPCR) outperformed qPCR in detecting replication competent lentivirus in CAR-T products by offering better sensitivity, specificity, and reproducibility, making it a reliable and rapid method for ensuring patient safety.
8 citations
,
January 2023 in “RSC Advances” This article reviews advancements in carbon dots for tissue engineering and regenerative medicine, highlighting challenges and future directions without presenting new clinical findings.
This study found that the Arabidopsis cation chloride cotransporter (CCC1) is crucial for regulating pH and processes in the trans-Golgi-network/early endosome, impacting plant growth and stress responses.
53 citations
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March 2006 in “Biopolymers” This study suggests that increased amounts of less stable disulfide conformers in hair shafts may be linked to the brittleness observed in trichothiodystrophy.
13 citations
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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.
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.
7 citations
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October 2019 in “Clinical, Cosmetic and Investigational Dermatology” This study found that specific polymorphisms in the VDR gene, Taq1, and Cdx1, were significantly associated with increased risk of chronic telogen effluvium in women.
This review discusses the potential conflicts of interest and quality concerns associated with direct-to-consumer teledermatology platforms and reports no new experimental results.
August 2026 in “Bone and Joint Research” In this study, tibial cortex transverse transport accelerated wound healing in diabetic rats, potentially through enhanced mobilization of non-classical monocytes and increased M2 macrophage polarization.