April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
34 citations
,
July 2009 in “Journal of Cell Science” ΔNp63α helps control a protein that stops cancer cells from spreading.
13 citations
,
November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
7 citations
,
August 2024 in “Journal of Cosmetic Dermatology” Isotretinoin effectively treats acne with low risk if dosed correctly.
3 citations
,
October 2021 in “Journal of Cosmetic Dermatology” Trichoscopy helps tell apart Frontal Fibrosing Alopecia and Lichen planopilaris by showing different hair and scalp features.
1 citations
,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” ASH2L is essential for skin and hair development.
March 2024 in “Research Square (Research Square)” Sex steroids affect the MafB gene differently in male and female hamsters.
January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
September 2017 in “Journal of Investigative Dermatology” The study found that sweat glands normally suppress immune responses, but this is disrupted in certain skin diseases, possibly contributing to their development.
23 citations
,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
253 citations
,
April 2008 in “Current opinion in cell biology” Notch signalling helps skin cells differentiate and prevents tumors.
223 citations
,
January 2014 in “International Journal of Molecular Sciences” The conclusion is that proper signaling is crucial for hair growth and development, and errors can lead to cancer or hair loss.
195 citations
,
November 2001 in “The Journal of Cell Biology” Desmocollin 1 is essential for strong skin and proper skin function.
165 citations
,
September 2003 in “Toxicology and applied pharmacology” Blocking COX, especially COX-2, in the skin can reduce inflammation and pain and may help prevent skin cancer.
119 citations
,
July 2016 in “Annals of the New York Academy of Sciences” Vitamin D has potential benefits for cancer prevention, heart health, diabetes, obesity, muscle function, skin health, and immune function, but clinical results are mixed and more research is needed.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
49 citations
,
November 2013 in “The Journal of Steroid Biochemistry and Molecular Biology” Vitamin D receptor helps control skin cell growth and hair development.
47 citations
,
March 2019 in “Journal of immunology research” Valproic Acid could potentially be used to treat immune-related conditions due to its ability to modify immune cell functions.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
37 citations
,
June 2011 in “Journal of Cellular Biochemistry” Androgen is important in controlling stem cell differentiation, reducing fat development, and increasing lean mass.
37 citations
,
February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
34 citations
,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
34 citations
,
June 2007 in “The Journal of Dermatology” Most Korean systemic lupus erythematosus patients experienced hair loss, often as non-scarring diffuse hair loss, with non-scarring patch alopecia also common.
32 citations
,
March 2021 in “Journal of endocrinological investigation” Thyroid hormones are important for skin health and changes in them can affect conditions like hair loss and eczema.
28 citations
,
February 2019 in “Genes” Proper control of β-catenin activity is crucial for development and preventing diseases like cancer.
27 citations
,
August 2014 in “Wiley interdisciplinary reviews. Developmental biology” The skin and thymus develop similarly to protect and support immunity.