4 citations
,
July 2019 in “Clinics in Dermatology” The document concludes that while white skin, nail, and mucosa diseases increase skin cancer risk, they are generally harmless, especially compared to darker pigmentation conditions.
Researchers made a mouse model with curly hair and hair loss by editing a gene.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
9 citations
,
August 2024 in “International Journal of Molecular Sciences” Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
130 citations
,
April 2001 in “Journal of Investigative Dermatology” The keratin tail is crucial for skin structure and function.
52 citations
,
January 2017 in “Dermatology” Swiss experts recommend specific guidelines for diagnosing and treating hidradenitis suppurativa to improve patient care.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
36 citations
,
December 2014 in “F1000 prime reports” The document concludes that Hidradenitis suppurativa is often underdiagnosed, lacks definitive treatment, and requires better awareness and management strategies.
29 citations
,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
1 citations
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January 2018 in “Indian dermatology online journal” The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
January 2026 in “Animals” TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
8 citations
,
September 2005 in “Practical diabetes” PCOS is a condition causing irregular periods, excess male hormones, and infertility, often managed by targeting insulin resistance and specific symptoms.
22 citations
,
June 2017 in “Stem cell reports” PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.
114 citations
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January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
78 citations
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January 2013 in “Dermatology Online Journal” Hidradenitis suppurativa is linked to various diseases like obesity, depression, arthritis, and Crohn's disease, but often occurs alone.
48 citations
,
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” Vitamin D is important for skin health and can help treat psoriasis, atopic dermatitis, and vitiligo.
37 citations
,
August 2024 in “Current Issues in Molecular Biology” Keratins 6, 16, and 17 increase in damaged or diseased skin and may help diagnose skin issues.
37 citations
,
November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
29 citations
,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
7 citations
,
April 2024 in “Life Medicine” Standardizing and engineering organoids can improve their use in medicine and drug testing.
May 2024 in “International journal of surgery case reports” A man had a large, rare cyst in his mouth removed after 10 years, which fixed his swallowing and breathing problems.
117 citations
,
April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
375 citations
,
June 2013 in “Biochimica et biophysica acta. Molecular cell research” Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.
198 citations
,
March 1999 in “Journal of Investigative Dermatology” Keratin 15 helps maintain tissue integrity and is reduced in activated keratinocytes.
135 citations
,
March 2000 in “Journal of Biological Chemistry” Agouti and AGRP affect pigmentation and obesity, with implications for metabolic disorders.