44 citations
,
October 2017 in “British Journal of Dermatology” Botulinum toxin has potential for treating various skin conditions and improving wound healing.
8 citations
,
April 2017 in “Journal of The Royal Society Interface” Giant axonal neuropathy changes the structure of keratin in human hair.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
222 citations
,
August 2014 in “Cell Metabolism” Mitochondrial Complex I reduces inflammation and increases bone breakdown by affecting certain immune cells.
3 citations
,
January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
4 citations
,
September 2004 in “Experimental Dermatology” Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
1 citations
,
April 2020 in “Asian Journal of Medicine and Biomedicine” A child's toe was saved from a rare condition where hair tightly wrapped around it by performing surgery.
11 citations
,
January 2005 in “Brazilian Journal of Medical and Biological Research” Hairless USP mice have enlarged skin cysts as they age.
1 citations
,
December 2023 in “Indian Dermatology Online Journal” Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
14 citations
,
July 2004 in “Australasian Journal of Dermatology” Follicular mycosis fungoides can look like a B-cell lymphoma, making diagnosis difficult.
April 2007 in “CRC Press eBooks” Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
January 2024 in “Wiadomości Lekarskie” High PMP 22 levels in type 2 diabetes patients may cause hearing loss.
1 citations
,
April 2023 in “Science Advances” High levels of ERK activity are key for tissue regeneration in spiny mice, and activating ERK can potentially redirect scar-forming healing towards regenerative healing in mammals.
306 citations
,
August 2011 in “Journal of cachexia, sarcopenia and muscle” Enobosarm significantly increased muscle mass and improved physical function in elderly men and postmenopausal women without serious side effects.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
232 citations
,
July 1995 in “Nature Genetics”
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
November 2022 in “Journal of Investigative Dermatology” Deleting MPZL3 increases skin oil production and reduces body fat.
21 citations
,
August 2002 in “British Journal of Ophthalmology”
4 citations
,
January 2017 in “Ciência Rural” A horse in Brazil with skin and gut issues was diagnosed with a severe disease and had to be euthanized.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
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.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
2 citations
,
January 2006 in “Indian Journal of Veterinary Pathology” Trichophyton mentagrophytes causes skin issues and nutrient deficiencies in young sheep, especially in winter.
June 2022 in “Ramathibodi Medical Journal” Long COVID care improved the patient's mobility, breathing, anxiety, and social relationships.
17 citations
,
September 2014 in “PLoS ONE” SK2 channels help control sensory signals in rat muscle spindles and hair follicles.