25 citations,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
2 citations,
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.
1 citations,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
34 citations,
July 2009 in “Journal of Cell Science” ΔNp63α helps control a protein that stops cancer cells from spreading.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
1 citations,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
3 citations,
February 2016 in “Pediatric dermatology” Strong skin creams work well for long-term scalp inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
43 citations,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
37 citations,
November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
1 citations,
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.
15 citations,
July 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
72 citations,
November 2017 in “Journal of developmental biology” The Hedgehog signaling pathway is important for skin and hair growth and can lead to cancer if it doesn't work right.
26 citations,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
145 citations,
May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
43 citations,
November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
1066 citations,
March 2010 in “Nature Reviews Molecular Cell Biology” MicroRNAs are crucial in controlling cell signaling, affecting cancer and tissue regeneration.
45 citations,
April 2018 in “Nature Reviews Urology” Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
29 citations,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
28 citations,
May 2017 in “Molecular ecology” Researchers found genes that control hair color and growth change before the visible coat color changes in snowshoe hares.
21 citations,
November 2022 in “Frontiers in immunology” Sebaceous glands play a key role in skin health, immunity, and various skin diseases.
20 citations,
September 2021 in “Nature communications” Cat color patterns are determined early in development by gene expression and epidermal changes, with the Dickkopf 4 gene playing a crucial role.
18 citations,
January 2020 in “Ecology and evolution” Genes related to pigmentation, body rhythms, and behavior change during hares' seasonal coat color transition, with a common genetic mechanism in two hare species.
17 citations,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
12 citations,
June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
9 citations,
January 2022 in “Theranostics” Collagen XVII is important for skin aging and wound healing.
6 citations,
January 2017 in “Advances in Experimental Medicine and Biology” Runx genes are important for stem cell regulation and their roles in aging and disease need more research.