21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
39 citations
,
December 1998 in “Journal of Cell Science” The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
1 citations
,
June 2022 in “Experimental dermatology” The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.
19 citations
,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
2 citations
,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
November 2023 in “Nature Communications” Cells lacking the Bax protein can outcompete others, leading to better tissue repair and hair growth.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
25 citations
,
June 2022 in “Developmental cell” Overactivating Hedgehog signaling makes hair follicle cells in mice grow hair faster and create more follicles.
93 citations
,
June 2011 in “Journal of Neuroscience” p63 is essential for activating and differentiating stem cells in the nose's olfactory tissue.
33 citations
,
March 2015 in “Experimental Dermatology” LHX2 and SOX9 identify unique hair follicle cell groups, crucial for hair maintenance.
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.
124 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
10 citations
,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
38 citations
,
January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
55 citations
,
March 2010 in “Aging” Circadian clock genes are important for hair growth and may affect aging-related hair loss and graying.
14 citations
,
April 2013 in “Journal of dermatological science” Hairless protein reduces Msx2 gene activity, affecting hair follicle development.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
12 citations
,
April 2019 in “Scientific Reports” A protein called HMGB1 helps hair grow by affecting prostaglandin metabolism.
75 citations
,
July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
237 citations
,
February 2016 in “Science Translational Medicine” The timing of when the gene Bmal1 is active affects aging and survival, with its absence during development, not adulthood, leading to premature aging.
79 citations
,
December 1999 in “Mechanisms of Development” Whn is crucial for hair growth in certain areas by controlling a specific gene.