299 citations
,
March 2001 in “Journal of Investigative Dermatology” Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.
48 citations
,
June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
42 citations
,
May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
25 citations
,
August 2006 in “Human Reproduction” Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
36 citations
,
October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
11 citations
,
July 2001 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.
2 citations
,
November 2017 in “Elsevier eBooks” Different substances that activate or block the androgen receptor can affect male development and treat conditions like prostate cancer.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
98 citations
,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
8 citations
,
March 2014 in “American Journal of Pathology” Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
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.
29 citations
,
May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
29 citations
,
February 2018 in “Genetics research international” Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
29 citations
,
July 2013 in “The Journal of Sexual Medicine” Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
9 citations
,
September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
51 citations
,
January 2003 in “Hormone Research in Paediatrics” Hormones and their receptors, especially androgens, play a key role in hair growth and disorders like baldness.
23 citations
,
May 2019 in “Expert Opinion on Therapeutic Patents” New androgen receptor modulators show promise for treating diseases like prostate cancer and muscle wasting.
8 citations
,
March 2020 in “Frontiers in Cell and Developmental Biology” Researchers created immortal human skin cells with constant testosterone receptor activity to study hair loss and test treatments.
4 citations
,
February 2025 in “BMC Genomics” Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
1 citations
,
January 2013 in “MedChemComm” PF-05314882 selectively activates androgen receptors without much effect on prostate and may help in prostate cancer treatment and hair loss prevention.