24 citations,
July 2017 in “Annals of botany” Pathogenic Pseudomonas syringae bacteria stimulate early root hair growth in Arabidopsis plants.
5 citations,
July 2020 in “JAMA Dermatology” Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
39 citations,
September 2018 in “American Journal of Medical Genetics Part A” The study reported a novel de novo pathogenic variant in the ODC1 gene in a 32-month-old Caucasian girl, marking the first human case with symptoms similar to those observed in a transgenic ODC1 mouse model. The identified heterozygous nonsense mutation in the ODC1 gene resulted in a premature termination of 14 amino acid residues at the protein's c-terminus. The patient exhibited phenotypic features such as developmental delay, alopecia, macrosomia, macrocephaly, spasticity, hypotonia, cutaneous vascular malformation, delayed visual maturation, and sensorineural hearing loss. Whole-exome sequencing and Sanger sequencing confirmed the mutation (c.1342 A>T), and elevated ODC protein and polyamine levels were found in the patient's red blood cells. The study suggested that the patient might benefit from treatment with α-difluoromethylornithine, an FDA-approved drug.