3 citations,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
2 citations,
December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
2 citations,
August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
2 citations,
May 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Stem cells help remove dead cells to keep tissues healthy by balancing cell replacement and clearance.
2 citations,
December 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
2 citations,
August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
2 citations,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The Asiatic lion has very low genetic diversity and unique genetic traits, highlighting the need for its conservation.
2 citations,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
2 citations,
January 2017 in “Journal of Pigmentary Disorders” Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
2 citations,
October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
2 citations,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
2 citations,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
research Acne
2 citations,
May 2011 in “Harper's Textbook of Pediatric Dermatology” Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
research Skin
2 citations,
January 2011 in “Elsevier eBooks” Skin problems are common in Lupus patients and can indicate the disease's severity, requiring specific treatments and lifestyle changes.
1 citations,
August 2023 in “Nature communications” Hdac1 and Hdac2 help maintain and protect the cells that control hair growth.
1 citations,
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain cells in the adult mouse ear come from cranial neural crest cells, but muscle and hair cells do not.
1 citations,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
1 citations,
July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
1 citations,
June 2023 in “Radiation oncology journal” Low-dose radiation therapy may improve brain function in some Alzheimer's patients and is generally well-tolerated.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
1 citations,
January 2023 in “Burns and trauma” Tiny particles from 3D-grown skin cells speed up wound healing by promoting blood vessel growth.
1 citations,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
1 citations,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
1 citations,
January 2021 CD4+ skin cells may be precursors to basal cell carcinoma.
1 citations,
October 2020 in “Journal of Cosmetic Dermatology” Possible link between hair loss and metabolic syndrome, with RANTES as a potential clue.
1 citations,
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing centrosomes from skin cells leads to thinner skin and stops hair growth, but does not greatly affect skin cell differentiation.
1 citations,
March 2020 in “Functional foods in health and disease/Journal of functional foods in health & disease” OM-X® helped prevent negative effects of Vitamin C deficiency in mice, suggesting it could protect organs and regulate metabolism.
1 citations,
March 2020 in “Journal of Pharmacological Sciences” Benzothiazepines like diltiazem reduce anxiety in mice by making neurosteroids.
1 citations,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.