January 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
June 2022 in “Authorea (Authorea)” Efficient delivery systems are needed for the clinical use of CRISPR-Cas9 gene editing.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
January 2015 in “American journal of medical and biological research” Androgenetic alopecia, or hair loss, is caused by genetic factors and hormones, with different mechanisms in men and women, and can be linked to insulin resistance and polycystic ovary syndrome.
695 citations,
October 2011 in “Cell stem cell” Low oxygen areas help maintain and protect blood stem cells by using a simple sugar breakdown process for energy and managing their activity levels.
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.
276 citations,
April 2003 in “Molecular endocrinology” Vitamin D is important for bones, hair, blood pressure, and breast development.
235 citations,
July 1999 in “Journal of biological chemistry/The Journal of biological chemistry” Human hair is made up of different keratins, some strong and some weak, with specific types appearing at various stages of hair growth.
234 citations,
November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
179 citations,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
169 citations,
February 2018 in “Immunity” Inactive stem cells in hair follicles and muscles can avoid detection by the immune system.
151 citations,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
149 citations,
January 2011 in “Nature reviews. Urology” Hormonal interactions, especially involving DHT and estrogen, play a key role in BPH development and treatment.
135 citations,
December 2006 in “PLoS Medicine” Hyaluronate fragments can help reverse skin thinning by working with the CD44 receptor.
132 citations,
August 2008 in “Development” Dlx3 is essential for hair growth and regeneration.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
106 citations,
February 2014 in “eLife” Lanceolate complexes in mouse hair follicles are essential for touch and depend on specific cells for maintenance and regeneration.
105 citations,
October 2018 in “Nature” A small group of slow-growing cells causes basal cell carcinoma to return after treatment.
89 citations,
August 2013 in “PloS one” Androgen receptors are active in many tissues of both male and female mice, not just reproductive organs.
75 citations,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
68 citations,
April 2014 in “Journal of Investigative Dermatology” Trichohyalin-like proteins are essential for the development of skin structures like hair, nails, and feathers.
61 citations,
January 2011 in “PloS one” Notch signaling is essential for healthy skin and hair follicle maintenance.
60 citations,
July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
57 citations,
April 2009 in “Differentiation” SDF-1/CXCL12 and its receptor CXCR4 are crucial for melanocyte movement in mouse hair follicles.
55 citations,
January 2020 in “Advances in experimental medicine and biology” Vitamin D and its receptor may help prevent skin cancer.
55 citations,
May 2019 in “Journal of Endocrinology” Androgens are important for female fertility and could help in IVF treatment, but also play a role in causing PCOS.
55 citations,
August 2013 in “PloS one” Genetic differences between young and old Tan sheep explain why their fleece changes from curly to straight as they age.
51 citations,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” Loss of a specific protein in skin cells causes symptoms similar to psoriasis.