Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
July 2025 in “Dermatology Practical & Conceptual” A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
384 citations
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June 2005 in “Genes & development” β-catenin is essential for stem cell activation and proliferation in hair follicles.
10 citations
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July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
5 citations
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October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
4 citations
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January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
48 citations
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January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
47 citations
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May 2020 in “Cardiovascular Research” The document concludes that future heart disease research should account for sex-specific differences to improve diagnosis, treatment, and outcomes.
39 citations
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April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
36 citations
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October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
20 citations
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December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
9 citations
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April 2006 in “American Journal of Pathology” SGK3 is essential for proper hair growth and health.
7 citations
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January 2014 in “Biological & pharmaceutical bulletin” Rice bran oil extracted by supercritical CO2 is considered non-genotoxic.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
38 citations
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October 2014 in “Current Opinion in Endocrinology, Diabetes and Obesity” 5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
295 citations
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September 2006 in “Cell Cycle” The conclusion is that using drugs to block the TOR pathway might slow aging and prevent age-related diseases.
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
100 citations
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May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
100 citations
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March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
56 citations
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December 2011 in “The Plant Journal” AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
47 citations
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April 2012 in “The Plant Journal” Phosphorylation of certain parts of the PIN3 protein is crucial for its role in plant root growth and response to gravity.
42 citations
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November 2002 in “The American journal of pathology” Distinct β-catenin patterns are linked to cell growth, not cell death, in lung cancer.
35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
25 citations
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May 2013 in “Journal of mammary gland biology and neoplasia” Hedgehog signaling is crucial for mammary gland development over hair follicles.
24 citations
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October 2017 in “Scientific reports” Changing light exposure can affect hair growth timing in goats, possibly due to a key gene, CSDC2.
19 citations
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July 2015 in “Journal of inherited metabolic disease” Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
17 citations
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November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.