October 2022 in “BMC genomics” RNA editing significantly affects hair growth and follicle cycling in the Tianzhu white yak.
5 citations
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September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
March 2011 in “Pigment Cell & Melanoma Research” The Agouti gene influences pigmentation and may have a developmental role in deer mice.
3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
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.
215 citations
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November 2000 in “Journal of Investigative Dermatology” The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
PmtHEE is a better model for studying pigmented skin because it includes melanocytes and shows improved cell differentiation.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.
6 citations
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December 2022 in “International Journal of Molecular Sciences” EZH2 is crucial for uterine gland development and female fertility.
13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
October 2014 in “Dialnet (Universidad de la Rioja)” Snail2 is crucial for hair growth and affects skin cancer development.
16 citations
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February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
1 citations
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November 2022 in “Journal of Investigative Dermatology” ALRN-6924 may prevent hair loss caused by chemotherapy.
November 2023 in “Nature Communications” Cells lacking the Bax protein can outcompete others, leading to better tissue repair and hair growth.
January 2011 in “The Chinese Journal of Dermatovenereology” Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
December 2023 in “International journal of molecular sciences” Chromosomal differences affect how muscle cells respond to testosterone.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
30 citations
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February 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Plet-1 protein helps hair follicle cells move and stick to tissues.
11 citations
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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.
27 citations
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December 2005 in “Journal of Cutaneous Pathology” The malignant pilomatricoma showed strong epithelial keratin expression, suggesting it may not calcify.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
89 citations
,
May 2005 in “Stem Cells” Mouse skin has special cells in the epidermis that decrease with age and are linked to keratinocyte stem cells.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
12 citations
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July 2020 in “Aging” The protein EZH2 blocks microRNA-22, increasing STK40 protein, which helps hair follicle stem cells change and grow hair.
6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.