36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
35 citations,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
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.
17 citations,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
9 citations,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
2 citations,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
January 2015 in “Hair transplant forum international” Female pattern hair loss is different from male pattern hair loss and has unclear genetic causes.
9 citations,
October 1988 in “Clinics in Dermatology” Hair loss is caused by genetics and hormones, diagnosed through examination and biopsy, and treated with medications or surgery.
3 citations,
August 2023 in “Genes” The document concludes that various signaling pathways and genetic factors are crucial for chicken feather development, affecting poultry quality.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
A hair growth ointment improved hair length in a family with a genetic hair growth condition.
100 citations,
April 2010 in “Expert Opinion on Pharmacotherapy” Hair loss in men treated best with early medication or transplant, new treatments researched.
52 citations,
June 2009 in “Current Opinion in Endocrinology, Diabetes and Obesity” The document concludes that hair transplantation and gene therapy may be important for future hair loss treatment.
51 citations,
January 2007 in “Animal Genetics” The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
49 citations,
November 2019 in “Egyptian Journal of Medical Human Genetics” Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
25 citations,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
24 citations,
January 2000 in “Dermatology” Gene linked to common hair loss found, may lead to new treatments.
22 citations,
May 2000 in “American Journal of Clinical Dermatology” Treatments for common hair loss include minoxidil, finasteride, and hair transplantation.
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.
69 citations,
November 2010 in “Middle East Fertility Society Journal” PCOS affects women's health by increasing the risk of diabetes, heart disease, and reproductive issues.
67 citations,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” The document concludes that alopecia areata is an autoimmune disease without a definitive cure, but treatments like corticosteroids are commonly used.
21 citations,
December 2013 in “Archives of Dermatological Research” No link found between new male baldness genes and female hair loss.
18 citations,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
10 citations,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
9 citations,
November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
7 citations,
January 2017 in “American Journal of Biological Anthropology” Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.