85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
1 citations
,
November 2002 in “Endocrine practice” The patient's high testosterone was reduced by a medication that suppresses gonadotropin.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
March 2023 in “Frontiers in Cell and Developmental Biology” Proteoglycans are vital for tissue growth and healing, with potential as treatment targets.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
October 2022 in “The American journal of gastroenterology” Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
30 citations
,
January 2016 in “Journal of Pharmaceutical and Biomedical Analysis” The research found different metabolism changes in PCOS patients and suggested new potential markers for diagnosing PCOS with or without insulin resistance.
April 2014 in “The FASEB Journal” Iron deficiency in mothers causes hair loss in their baby mice.
September 2022 in “Biomedicines” Lipid Accumulation Product and Free Androgens Index are effective for assessing fatty liver disease risk in women with Polycystic Ovary Syndrome.
109 citations
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April 1998 in “Journal of Investigative Dermatology” HGF/SF injections can stimulate hair growth and increase hair follicle size in mice.
April 2018 in “Journal of Investigative Dermatology” A new treatment using AGED to modulate PPAR-γ shows promise for treating scarring hair loss by protecting and repairing hair follicle cells.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
184 citations
,
August 1983 in “The journal of pediatrics/The Journal of pediatrics” Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
1 citations
,
February 2022 in “Terapevtičeskij arhiv” A young woman got liver damage from taking too much vitamin A for two years.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
6 citations
,
January 2005 in “Biology of Blood and Marrow Transplantation” Graft-versus-host disease occurs when donor immune cells attack the recipient's body, causing skin, gut, and liver damage.
6 citations
,
February 2020 in “Journal of Cutaneous Pathology” Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
2 citations
,
July 2021 in “Journal of feline medicine and surgery open reports” A diabetic cat with another gland issue got better after treatment with cabergoline, no longer needing insulin.
3 citations
,
January 2019 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Idiopathic hirsutism is the most common cause, followed by PCOS, and insulin resistance should be checked in patients with acanthosis nigricans.
June 2024 in “Archives of Dermatological Research” Higher blood sugar levels may lead to more severe hair loss in women.
12 citations
,
May 2005 in “Journal of the American Geriatrics Society” Stopping valproate and using lactulose can quickly treat valproate-induced hyperammonemia.
30 citations
,
December 2001 in “Experimental dermatology” Gonadal hormones significantly affect the severity of alopecia areata in mice.
63 citations
,
January 1971 in “Acta Medica Scandinavica” Replenishing iron after phlebotomy can cause relapse in porphyria cutanea tarda.
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
5 citations
,
October 2017 in “Cellular Reprogramming” Inhibiting HSP90 increases cell adaptability and survival under stress.
January 2013 in “Biology of blood and marrow transplantation” Rapamycin increased survival in mice with severe chronic graft-versus-host disease by expanding regulatory T cells.