12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
1 citations
,
June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
40 citations
,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
January 2002 in “Linchuang pifuke zazhi” A young woman had a rare scalp tumor usually found in older women.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
49 citations
,
July 2006 in “British Journal of Dermatology” Calcifying epithelioma cells can differentiate into hair cortex and outer root sheath.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
1 citations
,
June 2023 in “Advances in therapy” Ripretinib is effective and safe for treating advanced GIST in Chinese patients, particularly for non-gastric GISTs.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
April 2024 in “Journal of the American Academy of Dermatology” Diagnosing and treating CCCA requires understanding multiple causes and using various diagnostic tools.
3 citations
,
October 2019 in “EMBO molecular medicine” Targeting NCoR1 can help treat heart enlargement and dysfunction.
4 citations
,
January 2019 in “Obstetrics & gynecology science” A PET-CT scan successfully located a hard-to-find Leydig cell tumor in a woman with hormonal symptoms.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
15 citations
,
July 2009 in “Biomedical Chromatography” A reliable method was developed to measure aristolochic acid-I in rat blood.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
January 2021 in “American journal of dermatological research and reviews” The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
19 citations
,
July 1997 in “British Journal of Dermatology” LHTric-1 is a specific antibody useful for studying hair and nail formation.
The treatment was not recommended due to limited effectiveness and significant side effects.
7 citations
,
November 2017 in “Cureus” Ear creases might indicate heart disease risk, needing more research.
February 2026 in “Trials” The study aims to find the best platelet-rich plasma dose to relieve moderate carpal tunnel syndrome symptoms.
November 2022 in “Journal of Investigative Dermatology” A new tool helps study hair follicle cells to develop better treatments for hair disorders.
26 citations
,
October 2007 in “Experimental Dermatology” L-Carnitine-L-tartrate may help hair grow and prevent hair loss.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
5 citations
,
March 2013 in “International journal of surgical pathology” Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
3 citations
,
March 2025 in “Arthritis Research & Therapy” Combining fat grafts with botulinum toxin helps improve Raynaud's symptoms.
February 2022 in “Skin research and technology” Reflective confocal microscopy can potentially diagnose epidermoid cysts without a biopsy.
1 citations
,
March 2019 in “KnE life sciences” HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
March 2026 in “Mendeley Data” rwSALT provides precise hair regrowth measurement from scalp photos.