7 citations,
July 2019 in “Clinics in Dermatology” Hair loss can indicate or worsen with systemic diseases, and treating the underlying condition is important.
6 citations,
April 2013 in “Journal of Investigative Dermatology” Spironolactone might lower the chance of getting rosacea.
3 citations,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
2 citations,
December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
1 citations,
January 2013 in “Journal of Investigative Dermatology” The document concludes that stem cells and their environments are crucial for skin and hair health and have potential for medical treatments.
Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.
11 citations,
October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
November 2024 in “Rheumatology Advances in Practice” Monitor for early signs of azathioprine toxicity and check blood counts regularly.
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.
10 citations,
September 2022 in “Cellular and Molecular Life Sciences” SOX9 is essential for the development of various organs and hair follicles.
8 citations,
January 2023 in “International journal of molecular sciences” Transglutaminase activity is important for skin and is found in both mammals and birds.
3 citations,
January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
1 citations,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
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.
March 2024 in “Agriculture” CRISPR/Cas9 gene-editing shows promise for improving sheep and goat breeding but faces challenges with efficiency and accuracy.
October 2020 in “Stem cells” The document concludes that DNA methylation and the mTOR pathway are important for stem cell function and could impact disease treatment.
16 citations,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
5 citations,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
40 citations,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
53 citations,
August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
19 citations,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
9 citations,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
2 citations,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
1 citations,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
January 2024 in “Circulation” Certain genetic mutations can lower bad cholesterol and reduce heart disease risk, leading to effective cholesterol-lowering drugs.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
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.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.