November 2016 in “Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)” The VMH AMPK-SNS-BAT axis may help treat cachexia and obesity.
109 citations
,
April 1997 in “Journal of Lipid Research” Linoleate deficiency in rats reduces growth and n-6 polyunsaturate accumulation, causing mild symptoms.
October 2009 in “The American Journal of Gastroenterology” Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
July 2026 in “The Journal of Immunology” This study investigates the role of CD8 T cell-derived molecules in Alopecia Areata (AA) using a C3H/HeJ murine model. The research demonstrates that interferon gamma (IFNg) is a crucial effector molecule for CD8 T cells to induce AA, as IFNg-deficient CD8 T cells failed to transfer the disease. In contrast, perforin was found to be dispensable, as perforin-deficient CD8 T cells could still transfer the disease. Additionally, mice lacking the IFNg receptor (IFNgrKO) were unable to develop AA, highlighting the importance of IFNg sensing by the immune system in disease pathogenesis. These findings suggest that targeting IFNg pathways could be a potential therapeutic strategy for AA.
Defective nuclear transport may cause gene expression changes in Progeria.
April 2018 in “Journal of Investigative Dermatology” Aging reduces skin cell renewal and defense against germs due to TGFbeta, but blocking TGFbeta could help restore these functions.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
Defective protein folding due to a mutation is key in ANE syndrome.
30 citations
,
January 1997 in “ILAR Journal” The SAM model helps understand aging and related diseases.
January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
1 citations
,
March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
6 citations
,
April 2021 in “Scientific Reports” Phytochrome A is crucial for normal metabolism and development in tomato seedlings under far-red light.
3 citations
,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
384 citations
,
January 2008 in “Journal of Internal Medicine” Mitochondrial dysfunction contributes to ageing by causing DNA mutations and reduced cell function.
27 citations
,
July 2017 in “Scientific Reports” N-WASP is essential for healthy skin and preventing inflammation.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
3 citations
,
March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
36 citations
,
March 2002 in “Journal of Biological Chemistry” Food deprivation increases MST enzyme in the brain, possibly affecting energy balance.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
5 citations
,
September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
2 citations
,
August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
August 2016 in “Journal of Investigative Dermatology” Zinc deficiency disrupts hair growth and cycle, but zinc supplements can fix this.
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.
11 citations
,
November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” 848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.