7 citations
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January 2025 in “Frontiers in Microbiology” In this study, researchers investigated the immunohistopathological characteristics of the skin in individuals during the acute phase of chikungunya infection, revealing CHIKV antigens and inflammatory infiltrates in various skin components and highlighting the role of cytokines/chemokines in the disease's skin manifestations.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
1 citations
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March 2019 in “Hygiene and Sanitation” This study observed that exposure to heavy metal salts affected skin and hair morphology in mice, with lead acetate decreasing keratinocyte proliferation and zinc sulfate and sodium dichromate increasing it.
May 2023 in “Sučasna pedìatrìâ. Ukraïna” In a clinical observation study, researchers documented a case of total alopecia in an 11-year-old child, highlighting a potential link to genetic conditions such as autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED syndrome) requiring further genetic and serological testing to verify the diagnosis.
March 2023 in “International journal of trichology” This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.
380 citations
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March 2000 in “Proceedings of the National Academy of Sciences” This study demonstrates that mice with ectopic expression of the human GLI-1 gene in their skin developed tumors resembling human basal cell carcinoma, suggesting that GLI-1 is central to tumor development without additional p53 or Ha ras mutations.
25 citations
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August 2007 in “Molecular Therapy” This study found that using ectopic expression of CD24 is a promising approach for selecting genetically modified human epidermal stem cells for safe cutaneous gene therapy in cancer-prone conditions.
22 citations
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September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
16 citations
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October 2014 in “Cell death and disease” This study found that over- and ectopic-expression of FoxN1 in early life negatively affected the development of thymic epithelial cells, T and B cells, and skin epithelial cells.
14 citations
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December 1998 in “British Journal of Cancer” This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.
53 citations
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April 2014 in “Experimental Dermatology” In this study, ectopic Wnt10b-mediated β-catenin activation in hair follicles resulted in larger regenerating anagen hair structures, an effect modulated by the Wnt inhibitor DKK1.
1 citations
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January 2014 in “The journal of advances in parasitology” This case study in a German Shepherd with mixed ectoparasite and bacterial infections demonstrates that a combined therapeutic approach significantly improved the animal's skin condition and led to recovery.
August 2020 in “European Journal of Dermatology” This study identified three EDAR gene variants potentially linked to hypohidrotic ectodermal dysplasia in three Pakistani families, which could aid in genetic counseling for similar cases.
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.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
5 citations
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January 2021 in “Daru” This case report highlights a rare instance of severe multi-organ involvement following a single dose of methotrexate for ectopic pregnancy, requiring intensive care but ultimately successfully treated with leucovorin and supportive care.
3 citations
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June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
October 2024 in “Journal of the Endocrine Society” This case report highlighted a rare instance of Cushing's syndrome caused by ectopic ACTH from cervical cancer, demonstrating diagnostic challenges, treatment complexity, and high risks of morbidity and mortality, with less than 10 cases documented overall.
April 2023 in “Jurnal Sain Veteriner” This case report describes a Persian cat with Acute Moist Dermatitis triggered by ectoparasite infestation and complicated by systemic infection, which required intensive treatment including antiparasitics and antibiotics.
184 citations
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September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
155 citations
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August 2003 in “Journal Of Experimental Zoology Part B: Molecular And Developmental Evolution” This review discusses the conserved molecular mechanisms controlling hair follicle development and cycling and suggests they may also apply to other ectodermal derivatives, like teeth and feathers, but it reports no new results.
October 2024 in “Journal of the Endocrine Society” In this case report, a rare association between Cushing's syndrome caused by ectopic ACTH from cervical cancer is documented, highlighting the diagnostic challenges, treatment complexity, and high morbidity and mortality, with the patient succumbing to septic shock post-surgery.
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.
76 citations
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May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
29 citations
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December 2004 in “Developmental biology” In this study, forced expression of the transcription factor cDermo-1 in chicken dermis led to the formation of ectopic feather buds and enhanced feather growth, demonstrating its role in initiating skin appendage development.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
18 citations
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June 2011 in “Cell stem cell” Two studies in Cell Stem Cell reported that human and mouse somatic cells can be reprogrammed into induced pluripotent stem cells using microRNAs, eliminating the need for ectopic protein expression.
6 citations
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July 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” This case study reports the first known instance of hepatic adrenocortical carcinoma in a virilized young woman, highlighting the importance of comprehensive evaluation to identify ectopic adrenal tumors.
2 citations
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February 2021 in “FEBS open bio” In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.
1 citations
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May 2023 in “Acta Scientific Veterinary Sciences” In this study conducted in Nyala, Sudan, researchers assessed welfare issues in Friesian dairy cows and found significant concerns, including injuries, ectoparasites, unclean coats, and poor health status affecting a large portion of cows; they recommend improved education and veterinary services to enhance cattle wellbeing.