22 citations
,
June 2017 in “Stem cell reports” This study found that PTEN regulates the number and genomic stability of hair follicle stem cells in the skin, with its deficiency leading to increased stem cell accumulation and senescence through interactions with BMAL1 and BMI-1.
344 citations
,
May 2018 in “EMBO journal” This review discusses the regulation of the MiT-TFE family transcription factors, particularly TFEB, through phosphorylation-mediated subcellular localization and reports no new clinical results.
8 citations
,
September 2022 in “Human genomics” This study identified a coexpression network and key genes associated with thyroid eye disease, potentially aiding in its treatment and diagnosis.
3 citations
,
July 2013 in “Bioscience, Biotechnology, and Biochemistry” This study found that topically applied Chinese black tea extract, when fermented and combined with capsaicin, significantly promoted hair growth in mice, potentially involving estrogen receptor interactions.
This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.
36 citations
,
June 2015 in “International journal of toxicology” This study established a new mouse model for TCE-induced skin sensitization and reported that proinflammatory cytokines TNF-α, IFN-γ, and IL-2 significantly contribute to this sensitization process.
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.
December 2013 in “Appetite” This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.
3 citations
,
April 2020 in “PubMed” This study found that DEB-BACE combined with systemic chemotherapy was more effective than chemotherapy alone for unresectable lung squamous cell carcinoma, reducing side effects and improving survival rates.
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.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
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.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
2 citations
,
May 2022 in “The journal of immunology/The Journal of immunology” In vivo using the C3H mouse model, this study observed that BST2 expression occurs before hair loss in alopecia areata and is followed by an increase in epidermal γδ T cell numbers.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.
November 2010 in “SciVee” January 2026 in “Animals” This study researched the dun coat color in Mongolian horses, finding that variations in TBX3 expression in different skin areas are linked to Bider markings, suggesting TBX3's role in this specific pigment pattern, while further investigation is needed on its regulation.
August 2021 in “Research Square (Research Square)” This study found that BEO inhibited cell proliferation and inflammatory mediator release in a human keratinocyte acne model and reduced acne lesion severity in a rabbit model, suggesting its potential as a natural alternative to conventional acne treatments.
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.
January 2024 in “Genetics in Medicine Open” In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
May 2023 in “The Journal of Immunology” In this study, researchers found that BST2 expression is significantly upregulated in skin sections of mice with alopecia areata, implicating BST2's role in the disease pathogenesis through the action of epidermal γδ T cells and macrophages.
March 2025 in “Journal of Cosmetic Dermatology” This study explored the effects of TTFE on male androgenic alopecia, finding that topical application increased hair density, follicular diameter, and scalp hydration while reducing water loss and sebum production in a 12-week trial.
This study found that the "Trivedi Effect®" Biofield Energy Healing Treatment enhanced hair growth and melanogenesis in treated mice compared to untreated controls.
36 citations
,
October 2007 in “Journal of Investigative Dermatology” This study found that overexpression of betacellulin in transgenic mice delayed hair follicle morphogenesis and cycling, increased keratinocyte proliferation, and enhanced wound angiogenesis without affecting wound healing strength.
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.
October 2023 in “Lithuanian University of Health Sciences” This study investigated the TG5 gene polymorphism in Lithuanian beef cattle, finding that the CC genotype is associated with higher productivity traits, such as live weight and carcass weight, compared to other genotypes, and noted a statistically significant impact on these traits.
January 2023 in “Indian dermatology online journal” This case study describes a previously unknown association of the PIBIDS complex with autoimmune thyroiditis and autoimmune hemolytic anemia in a five-year-old Indian child.
2 citations
,
February 2025 in “Poultry Science” In this study, researchers investigated the genetic basis of the feathered foot trait in Guangxi native chickens and found that the gene TBX5 plays a critical role, suggesting it affects feather formation by regulating the proliferation and migration of dermal fibroblasts.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.