January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
16 citations
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July 1996 in “Journal of Investigative Dermatology” 3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
2 citations
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June 2021 in “Sultan Qaboos University medical journal” Familial frontal fibrosing alopecia is rare, mostly affects women, and often occurs between sisters or mother-daughter pairs.
2 citations
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April 2022 in “Genes” The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
November 2020 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” Certain genetic variants in PRLR and PCCA genes may lead to shorter hair in cattle, which could help with heat tolerance.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
20 citations
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March 2014 in “Molecular Endocrinology” NFIB and STAT5 work together to control specific genetic programs in cells.
4 citations
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July 2024 in “Animals” The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
9 citations
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October 2017 in “Frontiers in plant science” The peach gene CTG134 helps control the interaction between auxin and ethylene, which could lead to new agricultural chemicals.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
14 citations
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July 2004 in “Australasian Journal of Dermatology” Follicular mycosis fungoides can look like a B-cell lymphoma, making diagnosis difficult.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
99 citations
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July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
A new genetic mutation was found causing hair and eye issues in a boy.
8 citations
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November 2018 in “Australasian Journal of Dermatology” Frontal fibrosing alopecia in families shows similar signs to individual cases and may have a genetic link.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
28 citations
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August 2005 in “Journal of Investigative Dermatology” TG5 helps maintain hair follicle health, while TG3 aids in hair shaft development.
October 2022 in “Hair Transplantation” Combination grafting offers efficient, natural hair restoration in one session.
36 citations
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September 2015 in “Forensic Science International: Genetics” Certain DNA variants can predict straight hair in Europeans but are not highly specific.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.