October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
8 citations
,
July 2023 in “Inflammation and Regeneration” ALKBH5 helps wounds heal faster by stabilizing PELI2 mRNA.
137 citations
,
December 2006 in “Arthritis Research & Therapy” Mycophenolate mofetil is safer and more effective than cyclophosphamide for treating lupus nephritis.
April 2024 in “The Journal of urology/The journal of urology” SRD5A2 methylation in blood can predict how well someone will respond to finasteride treatment.
June 2021 in “The American Journal of the Medical Sciences” Androgenetic alopecia is linked to a higher risk of coronary heart disease due to certain genetic factors and high homocysteine levels.
18 citations
,
November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
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.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
89 citations
,
January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
1 citations
,
April 2007 in “The FASEB Journal” Lack of certain fatty acids causes skin, immune, and fertility issues in mice.
1 citations
,
March 2018 in “F1000Research” Diabetic neuropathy in mice is linked to poor mitochondria function and lower brain hormone production.
146 citations
,
May 2002 in “The American journal of pathology” Cathepsin L is essential for normal hair growth and development.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
13 citations
,
January 1997 in “Biochemical Pharmacology” Human liver enzyme DHEA ST helps process minoxidil.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
46 citations
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September 2007 in “Journal of Investigative Dermatology”
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
202 citations
,
August 2017 in “Nature cell biology” Lactate production is important for activating hair growth stem cells.
April 2023 in “Journal of Investigative Dermatology” Targeting mTOR in myeloid cells may help reduce psoriasis symptoms.
26 citations
,
July 2012 in “Endocrine Connections” Mitotane changes steroid breakdown, affecting cortisol availability.
January 2016 in “International Journal of Dermatology and Venereology” DNA methylation changes are linked to skin diseases with inflammation.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
6 citations
,
August 2024 in “Biomacromolecules” The model helps test drugs for clubfoot fibrosis by mimicking cell environments and shows minoxidil reduces harmful collagen links.
2 citations
,
September 2018 in “JAAD case reports” A rare type of skin cancer with mucosal involvement was partially treated but eventually relapsed.