8 citations
,
April 1965 in “Archives of biochemistry and biophysics” Sheep wool follicles can metabolize both glucose and acetate using different pathways important for wool growth.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
14 citations
,
July 1994 in “Journal of Investigative Dermatology” 8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
68 citations
,
September 2003 in “British Journal of Dermatology” Shrinking skin cancer increases the chance of cancer in nearby lymph nodes.
9 citations
,
October 2025 in “MedComm” PROTACs offer new ways to treat hard-to-target diseases, with promising drugs for cancer in advanced trials.
18 citations
,
February 2015 in “Acta Crystallographica Section D: Structural Biology” The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.
1 citations
,
August 2013 in “International Conference on Alcohol, Drugs and Traffic Safety (T2013), 20th, 2013, Brisbane, Queensland, Australia” People with kidney problems have higher hair EtG levels.
2 citations
,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
October 2021 in “JAAD Case Reports” Topical glycopyrrolate lotion helped reduce excessive sweating from eating in a diabetic man.
71 citations
,
May 2024 in “New England Journal of Medicine” Ruxolitinib may effectively treat APS-1 by reducing harmful immune responses.
8 citations
,
November 1976 in “Journal of Investigative Dermatology”
33 citations
,
October 2013 in “Journal of The American Academy of Dermatology” Pioglitazone usually doesn't effectively treat or cure lichen planopilaris.
10 citations
,
January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
87 citations
,
January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
20 citations
,
December 2012 in “Journal of molecular structure” The study found that thioglycolic acid breaks down hair bonds more consistently than l-cysteine, which is less damaging to hair.
July 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” Knuckle darkening can be an early sign of vitamin B12 deficiency.
An elderly woman developed severe skin discoloration after homeopathic knee injections, but the exact cause is unclear.
29 citations
,
September 1990 in “Biochemical Journal” Enzyme purified and characterized for minoxidil sulphation in rat liver.
Enzymatic synthesis improved the water solubility of the flavonoid baicalin, which may help treat hair loss conditions.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
June 2026 in “Frontiers in Oncology” GSDMA deficiency slows skin cancer growth.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
17 citations
,
May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
38 citations
,
April 2020 in “IntechOpen eBooks” Phenylalanine may help with depression but can cause issues if not properly processed.