38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
The PI's development is closely linked to skin and hair pigmentation in macaques.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
7 citations
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January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
53 citations
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September 2014 in “Reproductive Biology and Endocrinology” Different types of PCOS have different levels of metabolic problems, with the most severe type showing the highest disturbances.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
2 citations
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April 2021 in “Reproductive health of woman” Most women with polycystic ovary syndrome (PCOS) have menstrual issues, infertility, acne, and excessive body hair, with the most common type being the non-androgenic phenotype.
16 citations
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July 2008 in “BMC Genomics” Alpha 6 + /MHCI - cells have stem cell traits and are similar to mouse hair follicle stem cells.