46 citations
,
May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
6 citations
,
January 2010 in “Neoplasma” Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
1 citations
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October 2022 in “Biomedicines” Prdm1 is necessary for early whisker development in mice but not for other hair, and its absence changes nerve and brain patterns related to whiskers.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
8 citations
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October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
20 citations
,
August 2005 in “Journal of Cutaneous Pathology” The protein ARA70/ELE1 is involved in male pattern baldness, and lower levels of its short form may lead to hair thinning.
56 citations
,
November 2007 in “Molecular and cellular endocrinology” Two enzymes regulate androgen receptor activity, affecting treatments for androgen insufficiency and benign prostatic hyperplasia.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.
4 citations
,
December 2013 in “British Journal of Dermatology” ESR2 gene linked to female-pattern hair loss.
April 2024 in “Anais Brasileiros de Dermatologia” 11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
4 citations
,
July 2020 in “Biochemical and Biophysical Research Communications” A protein called ectodysplasin-A2 increases a hair growth inhibitor in balding cells, which could be a target for hair loss treatment.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
1 citations
,
January 2019 in “British Poultry Science” VEGF and VEGFR-2 genes influence feather maturity, and specific genetic markers can improve chicken breeding.
56 citations
,
December 2011 in “The Plant Journal” AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
16 citations
,
January 2005 in “The International Journal of Developmental Biology” Hex gene plays a crucial role in starting feather development in chick embryos.
6 citations
,
July 2024 in “Heliyon” Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
1 citations
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January 2022 in “BMC Genomic Data” The study found that androgen receptors in skin cells mainly affect the focal adhesion pathway and control the caveolin-1 gene, with implications for new treatments for related diseases.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
1 citations
,
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dicer is crucial for hair growth in mice.
1 citations
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March 2024 in “Genes & Diseases” EBF1 controls hair type and length.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
4 citations
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November 2022 in “Frontiers in endocrinology” The enzyme 5α-reductase type 1 is important for blood vessel development and fertility in the uterus.
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.
Defective protein folding due to a mutation is key in ANE syndrome.