2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
165 citations,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
20 citations,
January 2013 in “Cell & Bioscience” Understanding how epigenetic regulation affects stem cells is key to cancer insights and new treatments.
1 citations,
January 2022 in “Research Square (Research Square)” CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
125 citations,
September 2019 in “Journal of Clinical Immunology” Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
70 citations,
October 2020 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Janus kinase inhibitors are promising drugs for treating autoimmune and inflammatory diseases.
65 citations,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
31 citations,
May 2015 in “Stem Cell Reports” Stem cells and their surrounding environment in hair follicles work closely together, affecting hair growth and having implications for cancer and tissue regeneration.
21 citations,
February 2013 in “Clinics in Dermatology” New treatments for advanced skin cancer are improving patient outcomes, but drug resistance and finding the right treatment combinations are still big challenges.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
22 citations,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
September 2022 in “Scientific Reports” Scalp melanoma is more common and easier to diagnose early in people with androgenetic alopecia due to sun damage.
29 citations,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
50 citations,
December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
December 2022 in “Scientific Reports” Stem cells from whiskers can be transplanted to stimulate hair growth.
318 citations,
January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
April 2020 in “Journal of the Endocrine Society” A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
76 citations,
April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
5 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
2 citations,
August 2013 in “Journal of Investigative Dermatology” Nuclear shape and chromatin changes affect gene expression in skin cell differentiation.
May 2012 in “Nature Genetics” Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
333 citations,
February 2010 in “Cell Stem Cell” Stem cell niches are crucial for regulating stem cell behavior and tissue health, and their decline can impact aging and cancer.
194 citations,
May 2000 in “Journal of Investigative Dermatology” The hedgehog signaling pathway is crucial for hair growth but not for the initial creation of hair follicles.
124 citations,
February 2018 in “Nature Reviews Genetics” Stem cell plasticity is crucial for wound healing but can also contribute to cancer development.
51 citations,
June 2021 in “Signal Transduction and Targeted Therapy” The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.