2 citations,
December 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
March 2024 in “Frontiers in genetics” Xiangdong black goats have moderate genetic diversity, minimal inbreeding, and important genes for reproduction, immunity, and other traits.
December 2023 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
October 2022 in “Endocrine journal” Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
195 citations,
July 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
125 citations,
August 2020 in “Frontiers in Immunology” Men generally have more severe COVID-19 cases and higher death rates than women due to biological differences.
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.
106 citations,
November 2014 in “Cell Stem Cell” New single-cell analysis techniques are improving our understanding of stem cells and could help in treating diseases.
95 citations,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
66 citations,
December 2013 in “Nature Cell Biology” Inactive hair follicle stem cells help prevent skin cancer.
53 citations,
August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
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.
45 citations,
November 2012 The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
41 citations,
September 2012 in “Cellular and Molecular Life Sciences” MicroRNAs play a crucial role in skin and hair health, affecting everything from growth to aging, and could potentially be used in treating skin diseases.
39 citations,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
36 citations,
March 2011 in “Nature Communications” Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
36 citations,
September 2009 in “Journal of Cellular and Molecular Medicine” New treatments targeting skin stem cells show promise for skin repair, anti-aging, and cancer therapy.
31 citations,
January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
22 citations,
December 2017 in “International Journal of Molecular Sciences” Minoxidil boosts hair growth by increasing blood flow and nutrients to hair follicles.
20 citations,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
18 citations,
July 2010 in “Expert Review of Endocrinology & Metabolism” The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
16 citations,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
16 citations,
March 2011 in “Dermatologic Therapy” Women with greater androgen sensitivity respond better to finasteride for hair loss.
16 citations,
December 2001 in “Dermatologic Therapy” Alopecia areata has a complex genetic basis that was not fully understood as of 2001.
15 citations,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
14 citations,
January 2018 in “Advances in Clinical Chemistry” The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
13 citations,
August 2017 in “Scientific reports” Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.