86 citations
,
October 2005 in “Experimental Dermatology” The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
37 citations
,
February 2010 in “Psychoneuroendocrinology” Androgen self-administration might be controlled by membrane receptors, not nuclear ones.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
11 citations
,
March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
10 citations
,
March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
6 citations
,
September 2024 in “Journal of Clinical Medicine” Thyroid and skin autoimmune diseases share genetic and immune links, affecting both tissues.
6 citations
,
July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
1 citations
,
July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
December 2024 in “Turkish Journal of Forensic Medicine” Next-Generation Sequencing improves forensic analysis by providing detailed genetic information quickly.
January 2022 in “IntechOpen eBooks” Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
August 2014 in “Springer eBooks” Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
1 citations
,
April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
1 citations
,
May 2024 in “Applied Sciences” Cordyceps militaris is a promising, cost-effective medicinal fungus with health benefits and efficient production methods.
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.
January 2018 in “Journal of Investigative Dermatology” Blocking certain pathways with kinase inhibitors may help treat cutaneous lupus erythematosus.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
109 citations
,
January 2011 in “Frontiers in Systems Neuroscience” Choosing the right model order in brain connectivity analysis can affect the detection of differences between healthy individuals and those with seasonal affective disorder.
99 citations
,
December 2010 in “Journal of The European Academy of Dermatology and Venereology” The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
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.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
31 citations
,
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.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
1 citations
,
July 2022 in “Вопросы современной педиатрии” Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.