3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
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.
11 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Taking Propecia might lead to the development of cataracts.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
7 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Finasteride, often used for hair loss, can potentially cause cataracts.
5 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
38 citations
,
February 2012 in “British Journal of Dermatology” AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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.
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
1 citations
,
January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
3 citations
,
April 2010 in “The FASEB Journal” Estrogen and MLL enzymes work together to regulate genes important for hair growth and leukemia.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
2 citations
,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.