12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
4 citations
,
September 2019 in “Journal of Biomedical Optics” Medulla loss in scalp hair could help detect breast cancer.
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.
38 citations
,
April 2016 in “The Journal of Pathology” Alkaline ceramidase 1 is crucial for healthy skin and energy balance.
15 citations
,
November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
August 2018 in “Dermatologic Surgery” October 1993 in “The Journal of Clinical Pharmacology” 1 citations
,
December 2011 in “Arzneimittelforschung” CB-03-04 shows promise as a treatment for prostate issues due to its strong anti-androgen effects.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” BMP signaling controls hair growth and skin color.
July 2014 in “Plastic and Reconstructive Surgery” The rib-sparing technique in breast reconstruction may lead to more complications without reducing the need for further surgery.
14 citations
,
May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
1 citations
,
January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
9 citations
,
January 1997 in “Horticultura: Revista de industria, distribución y socioeconomía hortícola: frutas, hortalizas, flores, plantas, árboles ornamentales y viveros” PRC2 is not essential for hair follicle stem cell maintenance or hair growth.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
1 citations
,
January 2013 in “Lung India” Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
5 citations
,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
21 citations
,
April 2008 in “Toxicologic Pathology” CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.
11 citations
,
July 2021 in “Physiologia Plantarum” SIPHL1 from tomato enhances plants' response to low phosphate levels.
July 2025 in “Genome biology” HT-scCAT-seq helps understand gene regulation in embryonic skin development.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
109 citations
,
November 2011 in “Nature Neuroscience”
1 citations
,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
21 citations
,
December 1994 in “Journal of Investigative Dermatology” 5 citations
,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
April 2018 in “Journal of Investigative Dermatology” BMP signaling is important for skin color, affecting melanin production, pigment spread, and cell movement.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” The treatments stopped hair regrowth in mice.