January 2017 in “Open Journal of Endocrine and Metabolic Diseases” The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
20 citations
,
October 2008 in “European journal of endocrinology” Lower lipin 1β in belly fat is linked to insulin resistance in people with polycystic ovary syndrome.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
73 citations
,
April 2013 in “Stem cells” LGR5 helps maintain corneal cell characteristics and prevents unwanted changes by controlling specific cell signaling pathways.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
March 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Suppressing very long chain fatty acids is linked to skin cancer.
13 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
April 2023 in “Journal of Investigative Dermatology” LSD1 is essential for healthy skin development and creating the skin's protective barrier.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
1 citations
,
April 2016 in “Journal of lipid research” Lipin-1 is important for skin cell differentiation and skin barrier function.
January 2005 in “Life sciences” Targeting LPA could help treat skin disorders.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
124 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
1 citations
,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
253 citations
,
April 2009 in “Journal of Biological Chemistry” p2y5, now called LPA6, is a receptor important for human hair growth.
1 citations
,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
November 2023 in “ACS Omega” New liposome treatment successfully delivers CRISPR to deactivate a key enzyme in androgen-related disorders.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
December 2022 in “KSBB Journal” Activating TLR3 boosts autophagy gene expression in skin cells.
2 citations
,
November 2004 in “Blood” RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
35 citations
,
December 2017 in “Journal of Experimental Botany” AtCSLD3 and GhCSLD3 genes enhance root growth and cell elongation in plants.
178 citations
,
October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
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.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.