9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
65 citations
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July 2006 in “Journal of biological chemistry/The Journal of biological chemistry” The gene Foxq1, controlled by Hoxc13, is crucial for hair follicle differentiation.
31 citations
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January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
January 2023 in “International Journal of Zoological Investigations” Certain genetic variations in IL-16 may increase the risk of alopecia areata.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
111 citations
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October 2008 in “Nature Genetics” Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.
1 citations
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April 2017 in “Journal of Investigative Dermatology” CCL5 is important for the hair growth potential of human dermal papilla cells.
2 citations
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September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
33 citations
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April 2020 in “Journal of Clinical Investigation” Stress in hair follicle stem cells causes inflammation in a chronic skin condition through a specific immune response pathway.
1 citations
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
74 citations
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September 2006 in “Cell Cycle” The HR protein's role as a repressor is essential for controlling hair growth.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The Arabidopsis rhd2 mutant is more sensitive to drought because of changes in cell membrane proteins and cell structure.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
1 citations
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October 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
28 citations
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May 2015 in “Molecular Neurobiology” LSD1 is crucial for regenerating hair cells in zebrafish.
6 citations
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January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
667 citations
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May 2008 in “Genes & Development” Histone demethylases can change gene expression and may be linked to diseases like cancer.
January 2025 in “Pakistan Journal of Health Sciences” The Cyp11a1 gene variation has a weak link to PCOS, but higher di-hydro-testosterone levels are found in PCOS patients.
September 2024 in “Genes” CRABP1 boosts hair cell growth in Hu sheep by affecting key genes.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
15 citations
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January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
15 citations
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December 2021 in “Pharmaceutics” The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
April 2019 in “Journal of the Endocrine Society” Sex hormones may be linked to inflammation in Hidradenitis Suppurativa.
11 citations
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November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
100 citations
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December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.