November 2019 in “Harper's Textbook of Pediatric Dermatology” Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
January 2018 in “Murdoch Research Repository (Murdoch University)” Improved genetic diagnosis of PCOS can lead to better patient outcomes.
Mutations in keratin genes may link hair disorders to dental decay.
January 2014 in “Elsevier eBooks” The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
March 2009 in “Encyclopedia of Life Sciences” Mutations in keratin genes cause skin disorders, but new treatments show promise.
February 2009 in “RePub (Erasmus University Rotterdam)” Androgen receptor activity is influenced by hormones, co-factors, modifications, and mutations.
November 2005 in “Nature Reviews Molecular Cell Biology” The protein hairless is important for hair regrowth because it stops the protein wise from blocking the hair cycle.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
December 1991 in “Annals of the New York Academy of Sciences” Keratin proteins are crucial for hair structure and strength.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
125 citations
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February 2007 in “The EMBO Journal” Fgfr2b helps maintain healthy skin and prevent cancer.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
64 citations
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September 2006 in “International journal of epidemiology” Cancer development is like natural selection, involving mutated cells and environmental factors.
26 citations
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December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
20 citations
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July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
11 citations
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July 2016 in “Current Opinion in Cell Biology” New techniques have enhanced our understanding of how stem cells function and the role of mutations in aging tissues, which may influence future cancer therapies.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
3 citations
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October 2011 in “JAT. Journal of applied toxicology/Journal of applied toxicology” Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.
1 citations
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October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
1 citations
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December 2020 in “International journal of molecular sciences” External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.
1 citations
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January 2016 in “Elsevier eBooks” The document concludes that identifying the specific cells where skin cancers begin is important for creating better prevention, detection, and treatment methods.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
September 2006 in “Experimental Dermatology” Targeting multiple pathways and understanding genetic mutations are crucial for effective melanoma therapy.