18 citations
,
June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
321 citations
,
January 2012 in “Cell stem cell” TGF-β2 helps activate hair follicle stem cells by counteracting BMP signals.
1 citations
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November 2023 in “Reproductive biology and endocrinology” Most women with PCOS have insulin resistance, especially those with phenotype B.
September 2024 in “Journal of Inflammation Research” Type 1 Diabetes prevents hair growth by causing cell death in hair follicles.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
125 citations
,
May 2007 in “Journal of The American Academy of Dermatology” The BASP classification is a detailed and accurate way to categorize hair loss in both men and women.
1 citations
,
September 2004 in “Experimental Dermatology” MC-1R is present in skin cells and may help reduce inflammation.
2 citations
,
May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
November 2019 in “Neuro-oncology” Rind-based techniques can lower scalp radiation dose and reduce hair loss in brain cancer treatment.
November 2024 in “NeoReviews” An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
39 citations
,
March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” GLI2 increases follistatin production in human skin cells.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
26 citations
,
August 2014 in “Genetic Testing and Molecular Biomarkers” High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
24 citations
,
September 2019 in “Experimental cell research” BMP2 helps hair follicle stem cells become specialized by increasing PTEN, which causes autophagy.
11 citations
,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
8 citations
,
September 1981 in “Zentralblatt für Veterinärmedizin Reihe A” Biotin deficiency in pigs causes hair loss, skin issues, and weak claws.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
218 citations
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October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
4 citations
,
July 2019 in “Clinical and experimental dermatology” Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
7 citations
,
February 2020 in “Clinical and Experimental Dermatology” Both HLA-B and MICA are independently linked to alopecia areata.
41 citations
,
April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
4 citations
,
February 2023 in “International Journal of Stem Cells” The FTO gene hinders stem cells in hair follicles from becoming pigment cells.
13 citations
,
January 2021 in “The American journal of gastroenterology” Sirolimus effectively reduces lesions and improves quality of life in Blue Rubber Bleb Nevus Syndrome with manageable side effects.
September 2024 in “Wound Repair and Regeneration” Obesity harms skin health by causing inflammation and delayed wound healing.
17 citations
,
May 2019 in “Diabetes and Metabolic Syndrome: Clinical Research and Reviews” High fasting insulin levels in women with PCOS are linked to a higher risk of heart and metabolic problems.
April 2017 in “Journal of Investigative Dermatology” Eating a lot of fat increases PKCβ and inflammation in skin fat cells, which affects skin and hair health.