January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
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.
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.
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.
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.
7 citations
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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.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
81 citations
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June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
4 citations
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February 2025 in “BMC Genomics” Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
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.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
70 citations
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January 2014 in “International review of cell and molecular biology” Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
28 citations
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November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
2 citations
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August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
4 citations
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May 2006 in “médecine/sciences” The hairless gene is crucial for hair health, and its mutations cause hair loss.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
3 citations
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March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
2 citations
,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
97 citations
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March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
January 2008 in “US endocrinology” Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
136 citations
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
86 citations
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June 1998 in “Journal of Investigative Dermatology” The hairless gene mutation causes baldness by disrupting hair follicle structure.
21 citations
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March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.