30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
25 citations
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June 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
58 citations
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December 2020 in “Mayo Clinic Proceedings” The conclusion is that individual differences in COVID-19 severity are influenced by factors like age, sex, race, and genetics, which are important for personalized medicine.
30 citations
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December 1996 in “Journal of Investigative Dermatology”
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
60 citations
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January 2007 in “Human Genetics” AR polyglycine repeat doesn't cause baldness.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
July 2024 in “Indian Journal of Dermatology Venereology and Leprology” Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
August 2015 in “Han'gug dongmul jawon gwahag hoeji/Han-guk dongmul jawon gwahak hoeji/Journal of animal science and technology” TRα and CRABPII genes change their activity levels during goat fetal skin development.
April 1974 in “Pediatric Research” The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
12 citations
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January 2018 in “Journal of Clinical Laboratory Analysis” Certain IL-18 gene variations may increase the risk of alopecia areata.
6 citations
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April 2023 in “Current Issues in Molecular Biology” A specific gene variant may increase the risk of developing Alopecia Areata.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
June 2024 in “Annals of Medicine and Surgery” A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
16 citations
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March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
3 citations
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January 2023 in “American journal of physiology. Cell physiology” Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
1 citations
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August 2024 in “Animals” KRT85 gene variations can help improve wool traits in sheep through selective breeding.
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
1308 citations
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March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
November 2022 in “Scientific Reports” Certain ESR1 gene variations may affect hormone levels and fat distribution in women with high male hormone levels.
1 citations
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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.
8 citations
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August 2007 in “Histopathology” Different growth patterns in thyroid tumors are influenced by where cell growth and death occur.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
January 2024 in “Pediatric Dermatology” Minoxidil improved hair growth in a child with a rare genetic disorder.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
16 citations
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August 2021 in “Tumor Biology” TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
14 citations
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January 1977 in “PubMed” The hair keratin variant is mostly found in Caucasians.