5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
4 citations
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September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
3 citations
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April 2023 in “Clinical and Experimental Medicine” The study identified five types of long COVID symptoms and suggests tailored management strategies for each.
3 citations
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September 2021 in “Journal of Clinical Medicine” Epidermal signaling helps regenerate fingertip tissue.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
2 citations
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May 2011 in “Pigment Cell & Melanoma Research” Collagen XVII is crucial for preventing hair and pigmentation loss by maintaining melanocyte stem cells.
1 citations
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February 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” A300 membranes help skin heal faster by promoting cell growth and repair.
1 citations
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September 2019 in “Journal of Investigative Dermatology” Anti-Desmocollin 3 antibodies can cause pemphigus-like symptoms in mice.
1 citations
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August 2019 Anti-Desmocollin 3 antibodies can cause atypical pemphigus symptoms.
1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
November 2025 in “Bioactive Materials” The cryogel effectively heals infected wounds and promotes tissue regeneration without scarring.
October 2025 in “Animal Bioscience” Key genes linked to important traits in Chinese sheep and goats have been identified, but challenges remain in breeding improvements.
May 2025 in “Proceedings of the National Academy of Sciences” UTX is crucial for skin differentiation and health, especially in females.
April 2025 in “Journal of Investigative Dermatology” Fibronectin is essential for hair follicle regeneration by supporting stem cells.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
February 2024 in “New phytologist” DNA changes in tetraploid wheat improve root growth and nitrogen use.
PCOS requires personalized treatment to improve life quality and reduce health risks.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
April 2018 in “Journal of Investigative Dermatology” Different types of stem cells in the skin contribute to the variety of melanoma forms.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
NuMA-microtubule interactions are vital for proper skin structure formation and function.
January 2015 in “Elsevier eBooks” Stem cells show promise for nerve injury treatment, but more research is needed before human use.
January 2015 in “DukeSpace (Duke University)” Transferrin receptor 1 is essential for normal function in the intestines, pancreas, and skin.
January 2014 in “eScholarship (California Digital Library)” Lrig1 and Lgr6 stem cells help maintain hair follicles and influence skin cancer development.
June 2008 in “The Knowledge Bank (The Ohio State University)” Smad2 and Smad3 are essential for normal skin development, and their absence causes severe skin issues and cancer.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.