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.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
105 citations
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February 2017 in “British Journal of Dermatology” Survivors of Stevens-Johnson syndrome/toxic epidermal necrolysis need ongoing care for various long-term health problems.
85 citations
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July 2012 in “Cold Spring Harbor perspectives in biology” The skin protects the body and is constantly renewed by stem cells; disruptions can lead to cancer.
48 citations
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November 1992 in “International Journal of Dermatology” Toxic epidermal necrolysis is a severe skin reaction often linked to drugs, requiring careful medication use and supportive care.
33 citations
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October 2017 in “Drug Safety” SJS/TEN survivors often have severe, overlooked long-term physical problems that are not properly treated after leaving the hospital.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
3 citations
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February 2016 in “Pediatric dermatology” Strong skin creams work well for long-term scalp inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
3 citations
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May 2022 in “Oncogene” Vav2 and Vav3 proteins help control skin stem cell numbers and activity in both healthy and cancerous cells.
January 2021 in “Veterinary research forum” A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
12 citations
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February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
41 citations
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July 2016 in “Journal of Investigative Dermatology” Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
21 citations
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January 2005 in “Skinmed” Hair and nails are similar keratin structures with different shapes and growth, affected by the same diseases and environmental factors.
17 citations
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November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
15 citations
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February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
2 citations
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January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
30 citations
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December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
August 2018 in “Journal of Investigative Dermatology” Centrosomes are essential for healthy skin and hair growth, and their role is different from that of cilia.
August 2018 in “Journal of Investigative Dermatology” The conclusion is that using light-sheet fluorescence microscopy with a special solution can effectively create detailed 3D images of human skin for dermatological research.
155 citations
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August 2003 in “Journal Of Experimental Zoology Part B: Molecular And Developmental Evolution” Understanding hair growth involves complex interactions between molecules and could help treat hair disorders.
788 citations
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February 2007 in “Nature” The document concludes that skin stem cells are important for hair growth and wound healing, and could be used in regenerative medicine.
409 citations
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May 1991 in “Genes & Development” TGF-alpha affects skin thickness, hair growth, and may contribute to psoriasis and papilloma formation.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
176 citations
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January 2003 in “Journal of Investigative Dermatology” Bone Morphogenetic Proteins (BMPs) help control skin health, hair growth, and color, and could potentially be used to treat skin and hair disorders.
118 citations
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January 2016 in “Current Topics in Developmental Biology” The document concludes that while significant progress has been made in understanding skin biology and stem cells, more research is needed to fully understand their interactions with their environment.