39 citations
,
September 2012 in “Human Reproduction” Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
29 citations
,
June 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.
26 citations
,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
57 citations
,
November 2017 in “Nature Communications” Researchers found 71 genetic regions linked to male pattern baldness, which account for 38% of its genetic risk.
29 citations
,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
23 citations
,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
5 citations
,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
4 citations
,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
October 2022 in “Veterinária notícias/Veterinária Notícias” A 5-year-old Akita with a rare skin condition improved significantly after treatment.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
59 citations
,
July 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.
19 citations
,
March 1988 in “International Journal of Dermatology” Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
1 citations
,
November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
1 citations
,
May 1965 in “Medical Clinics of North America” Hair growth dysfunction involves various conditions with limited treatment options.
May 2023 in “Sučasna pedìatrìâ. Ukraïna” An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
June 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
147 citations
,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
15 citations
,
February 2014 in “PloS one” LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
4 citations
,
January 2012 in “Elsevier eBooks” The document concludes that various skin conditions have specific treatments, ranging from antihistamines for urticaria to surgery and medication for tumors and chronic skin diseases.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
May 2021 in “GSC Advanced Research and Reviews” Hair color is influenced by genetics and can indicate certain health conditions.
May 2021 in “Journal of the Endocrine Society” The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
36 citations
,
October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.