May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
December 2020 in “Journal of The American Academy of Dermatology” The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
432 citations
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April 2014 in “Nature communications” A mother's diet at conception can cause lasting genetic changes in her child.
68 citations
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October 2016 in “Experimental dermatology” FFA's causes may include environmental triggers and genetic factors.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
4 citations
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January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
4 citations
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August 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
4 citations
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December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
4 citations
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May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
February 2022 The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
September 2021 in “International Journal of Biomedicine” Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
266 citations
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November 2013 in “European Journal of Epidemiology” The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
117 citations
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November 2006 in “Experimental Dermatology” The article concludes that the wool follicle is a valuable model for studying tissue interactions and has potential for genetic improvements in wool production.
47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
25 citations
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August 2006 in “Human Reproduction” Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
12 citations
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December 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
3 citations
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March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
1 citations
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September 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The meeting highlighted major advances in skin research, including new findings on skin microbes, genetic links to skin diseases, and improved treatments for various conditions.
May 2023 in “Cutis” A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
129 citations
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May 2015 in “Cell Stem Cell” Different types of stem cells exist within individual skin layers, and they can adapt to damage, transplantation, or tumor growth. These cells are regulated by their environment and genetic factors. Tumor growth is driven by expanding, genetically altered cells, not long-lived mutant stem cells. There's evidence of cancer stem cells in skin tumors. Other cells, bacteria, and genetic factors help maintain balance and contribute to disease progression. A method for growing mini organs from single cells has been developed.
30 citations
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June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
19 citations
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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.
18 citations
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January 2020 in “Ecology and evolution” Genes related to pigmentation, body rhythms, and behavior change during hares' seasonal coat color transition, with a common genetic mechanism in two hare species.
17 citations
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January 1997 in “Cell and Tissue Research” Scientists developed a method to grow human fetal skin and digits in a lab for 3-4 weeks, which could help study skin features and understand genetic interactions in tissue formation.