52 citations
,
January 2003 in “Journal of Investigative Dermatology” This study found that thrombospondin-1 plays a critical role in hair follicle cycle regulation, with deficiency prolonging follicle growth and overexpression delaying it through antiangiogenic effects.
9 citations
,
May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
February 2009 in “Journal of The American Academy of Dermatology” Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
5 citations
,
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.
27 citations
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May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
1 citations
,
January 2008 This study found that super-enhancers in squamous cell carcinoma stem cells are distinctly different from those in normal skin stem cells, with ETS2 playing a crucial role in promoting tumor growth.
3 citations
,
July 2022 in “Brain and Behavior” This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
June 2026 in “Current Oncology Reports” This review highlights the potential of Sacituzumab Tirumotecan, an antibody-drug conjugate, in treating gynecologic cancers, with ongoing Phase III trials indicating a manageable safety profile and future results expected to shed light on its effectiveness in improving survival and response rates.
147 citations
,
August 2005 in “The Plant Cell” This study identified a key Arabidopsis thaliana gene, TIP1, whose product is involved in S-acylation crucial for normal plant cell growth, particularly affecting root hair development.
32 citations
,
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.
28 citations
,
July 2007 in “Development” In this study, inactivating the TAF4 subunit of transcription factor TFIID in mouse epidermis disrupted gene expression linked to skin and hair function, and increased tumor risk.
324 citations
,
May 2002 in “Oncogene” 71 citations
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January 2011 in “Journal of cutaneous pathology” This case report describes the first confirmed instance of trichodysplasia spinulosa in a child with Down syndrome and leukemia, linking it to the TS-associated polyomavirus.
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.
288 citations
,
January 2001 in “Journal of Biological Chemistry” In this study, the disruption of Gh/tissue transglutaminase in mice did not affect viability but reduced thymocyte viability and fibroblast adhesion, suggesting its role in cell stabilization and extracellular matrix interactions.
January 2010 in “Journal of Animal Science” This study demonstrated that transcutaneous vaccination via cyanoacrylate skin surface stripping effectively induced both CD4 and CD8 T cell responses in humans, offering a promising alternative to intramuscular injection.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
April 2024 in “Indian dermatology online journal” This case report describes a 53-year-old woman with a rare presentation of trichostasis spinulosa on her breast and abdomen, featuring itchy, comedo-like lesions. Dermoscopy revealed diagnostic features that may eliminate the need for a biopsy, highlighting the potential for non-invasive diagnosis in such cases.
188 citations
,
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.
21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” This study found that trichothiodystrophy can be diagnosed prenatally in the second trimester using an endoscopically-guided fetal eyebrow biopsy, with sulfur content analysis being the most reliable test.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that TGM2 appears to play a crucial role in sebocyte differentiation and may act as a negative regulator of lipid metabolism in sebaceous glands.
37 citations
,
January 1986 in “Carcinogenesis” This study found that TPA treatment transiently induces high levels of ODC in mouse epidermal cells, particularly around hair follicles, with localization reduced by retinoic acid or cycloheximide pretreatment.
June 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study found a specific T cell receptor that may be key in carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis, suggesting potential therapeutic targets.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
29 citations
,
January 2021 in “Translational Psychiatry” This study found that certain gene sets, including those involved in ligand-gated ion channel signaling and cell adhesion, are associated with Tourette syndrome, suggesting a potential neurobiological basis for the disorder.
16 citations
,
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.
6 citations
,
May 2016 in “Experimental Dermatology” This study by Flores and colleagues found that the type of tumor that develops in a specific subset of epidermal stem cells is influenced by which tumor suppressor gene is deleted.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.