4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
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.
7 citations
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May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
2 citations
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August 2020 in “CRC Press eBooks” Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
178 citations
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May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
33 citations
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September 2014 in “Reproductive Biology and Endocrinology” High afamin levels are linked to metabolic syndrome and may predict its development in women with insulin resistance.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
70 citations
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August 2006 in “Cancer Research” AP-1 controls tumor cell type by affecting key signaling pathways.
July 2024 in “Journal of Investigative Dermatology” CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.
1 citations
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October 2023 in “Journal of the Pakistan Medical Association” Folliculotropic mycosis fungoides can occur in children and is diagnosed with specific tests, but often stays in early stages with treatment.
1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
July 2025 in “Russian Journal of Clinical Dermatology and Venereology” Tofacitinib may help hair regrowth in familial alopecia areata with immune issues, but more research is needed.
15 citations
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February 2021 in “Scientific Reports” RNA aptamers can specifically block FGF5-related cell growth, potentially treating related diseases or hair disorders.
31 citations
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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.
August 2021 in “Acta Haematologica Polonica” Folliculotropic mycosis fungoides has a worse prognosis than other types, with survival rates varying significantly based on subtype and organ involvement.
8 citations
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June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
99 citations
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July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
42 citations
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September 2012 in “PLoS ONE” Bezafibrate treatment improved skin and spleen health in aging mice but didn't extend lifespan.
Innate lymphoid cells type 1 may contribute to alopecia areata by damaging hair follicles.
July 2024 in “Journal of Investigative Dermatology” The Fas/FasL pathway may play a role in alopecia areata.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair loss in certain mice is linked to changes in keratin-related genes.
16 citations
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April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
5 citations
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February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
68 citations
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May 2016 in “Experimental dermatology” FFA's causes may include environmental triggers and genetic factors.
January 2023 in “International Journal of Zoological Investigations” Certain genetic variations in IL-16 may increase the risk of alopecia areata.