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.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
1 citations,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
1 citations,
January 2023 in “Frontiers in genetics” Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.
15 citations,
July 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
June 2008 in “British Journal of Dermatology” UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.
11 citations,
November 1998 in “Journal of dermatological science” Knocking out certain genes in mice helps understand skin and hair growth problems.
29 citations,
December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
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.
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.
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.
6 citations,
October 1993 in “The journal of the Royal Society of Health” Children's hair loss has many causes and requires careful diagnosis and personalized treatment, including emotional support.
49 citations,
January 2003 in “American Journal of Clinical Dermatology” Effective management of children's hair loss involves accurate diagnosis, various treatments, and supportive care.
23 citations,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
6 citations,
May 2006 in “Skinmed” Androgens contribute to common male hair loss; more research needed for hair growth medication.
2 citations,
April 2022 in “Genes” The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
2 citations,
January 2017 in “Journal of Pigmentary Disorders” Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
September 2022 in “JAMC. Journal of Ayub Medical College, Abbotabad, Pakistan/Journal of Ayub Medical College” A boy with a rare skin condition improved quickly after starting zinc supplements.
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.
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.
11 citations,
January 2015 in “Dermatology” The conclusion suggests a new way to classify bradykinin-mediated angio-oedema based on different causes and its possible link with urticaria, which could improve diagnosis and treatment.
4 citations,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
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,
February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
47 citations,
January 2013 in “International Journal of Cosmetic Science” Hair diversity is influenced by complex genetics and environmental factors, requiring more research for practical solutions.