A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
1 citations
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October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
March 2017 in “European Urology Supplements” Gene differences affect finasteride side effects in men with hair loss.
10 citations
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January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
7 citations
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March 2024 in “Non-coding RNA Research” DNA methylation of miR-365-1 causes hair follicle stem cell death by affecting DAP3.
19 citations
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July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.
13 citations
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November 2018 in “Animal Genetics” A new gene variant causes curly coats in some dog breeds.
20 citations
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October 2005 in “Archives of Dermatological Research”
April 2025 in “International Journal of General Medicine” The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
15 citations
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April 2019 in “Journal of Cellular Biochemistry” Certain blood miRNAs are linked to severe alopecia areata and could lead to new treatments.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
14 citations
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December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
20 citations
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December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
3 citations
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January 2020 in “Indian Journal of Dermatology” Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.
10 citations
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May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
20 citations
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June 2019 in “Experimental Dermatology” The research suggests that autophagy-related genes might play a role in causing alopecia areata.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
6 citations
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October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
1 citations
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November 2023 in “Anais Brasileiros de Dermatologia” Certain gene variations and low adiponectin levels may increase the risk of hair loss in Egyptians.
October 2022 in “BMC genomics” RNA editing significantly affects hair growth and follicle cycling in the Tianzhu white yak.
23 citations
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.