September 2023 in “Frontiers in Medicine” The scalp fat tissue of men with hair loss shows changes in gene activity that may contribute to their condition.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased energy use in Pik3r1-related insulin resistance isn't due to Ucp1 thermogenesis.
January 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” AP-2α and AP-2β are crucial for healthy skin and hair.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
147 citations
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August 2005 in “The Plant Cell” The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
September 2025 in “Stem Cell Research & Therapy” TAZ boosts fat cell formation in goat stem cells by activating a specific signaling pathway.
3 citations
,
March 2023 in “Annals of the New York Academy of Sciences” Mutations in claudin-1 and claudin-3 cause hair loss in baby mice.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
November 2023 in “Cell Proliferation” A protein from fat-derived stem cells, DKK1, is linked to hair loss and blocking it may help treat alopecia areata.
128 citations
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December 2006 in “Journal of Biological Chemistry” Altering SSAT affects fat metabolism and body fat in mice.
2 citations
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June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
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.
1 citations
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October 2010 in “Pediatrics in review” Early diagnosis of malabsorptive disorders in children is crucial to prevent long-term malnutrition.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
21 citations
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June 1991 in “Journal of Inherited Metabolic Disease” Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
18 citations
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January 1977 in “Annals of Nutrition and Metabolism” Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
40 citations
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December 2012 in “PLoS ONE” Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
23 citations
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November 2019 in “International Journal of Molecular Sciences” Adipose-derived stem cells can help repair tissue in lipodystrophy patients.
31 citations
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August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
3 citations
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January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
April 2026 in “Diagnostics” Skin changes in obesity can indicate metabolic issues but aren't reliable for assessing risk or monitoring treatment.
48 citations
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March 2010 in “PloS one” C/EBPalpha and C/EBPbeta are crucial for normal skin and oil gland cell development in adult mice.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
88 citations
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October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Patients with this syndrome can have different responses and worsening resistance to treatment over time.
67 citations
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April 2014 in “Biochemical Journal” Ceramide synthase 4 deficiency in mice leads to hair loss due to altered sebum lipids.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.