30 citations
,
December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
73 citations
,
June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
140 citations
,
October 2008 in “Nature Genetics”
23 citations
,
January 2014 in “International Journal of Biological Sciences” African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
59 citations
,
September 2007 in “Biochemical and Biophysical Research Communications” The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
11 citations
,
March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
5 citations
,
September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
12 citations
,
February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Krox20 is important for maintaining stem cells in the skin and affects hair growth and color.
8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
7 citations
,
September 2006 in “Molecular Carcinogenesis” Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
2 citations
,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
Understanding genetics is crucial for treating heart and skin diseases.