33 citations,
February 2016 in “Journal of Experimental Botany” ROOT HAIR SPECIFIC 10 (RHS10) reduces the length of root hairs in Arabidopsis plants.
18 citations,
November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
10 citations,
January 2016 in “Dermatology” People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
8 citations,
March 2015 in “Neuromuscular Disorders” People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
8 citations,
June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
3 citations,
August 2022 in “Archives animal breeding/Archiv für Tierzucht” Certain genetic changes in the KAP22-1 gene are linked to better wool quality in Egyptian sheep.
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.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
February 2022 in “International journal of KIU” Certain genes and nutrients like vitamin D, zinc, and omega fatty acids affect COVID-19 severity and infection risk.
August 2017 in “Journal of epidemiological research” Cancer rates are increasing in developed countries, with estrogen, aging, low vitamin D3, and HPV infection as common causes.
May 2009 in “The American Journal of Dermatopathology” Mast cells play a significant role in hair loss conditions like male pattern hair loss and alopecia areata.
48 citations,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
51 citations,
January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.
20 citations,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
13 citations,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
5 citations,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
1 citations,
April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
10 citations,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
120 citations,
August 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cytokeratin 19 and cytokeratin 15 are key markers for monitoring the quality and self-renewing potential of engineered skin.
93 citations,
May 2002 in “Journal of Investigative Dermatology” Overexpressing thrombospondin-1 in mice skin prevents UVB-induced skin damage.
10 citations,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” FP-1 is a key protein in rat hair growth, active only during the growth phase.
3 citations,
January 2020 in “Indian Journal of Dermatology” Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
67 citations,
December 2013 in “Journal of Biological Chemistry” SCD1 is crucial for skin health and overall energy balance.
58 citations,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
12 citations,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
8 citations,
May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
3 citations,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
3 citations,
March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.