September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
April 2016 in “Journal of Investigative Dermatology” Decreasing MIG6 can increase the movement and invasiveness of MEK-inhibited mutant NRAS melanoma, particularly when stimulated by EGF.
1 citations
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October 2025 in “International Journal of Molecular Sciences” Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
14 citations
,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
1 citations
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January 2001 Cancer patients have lower immunity and higher virus and zinc levels in their hair.
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
September 2020 in “Acta Scientific Cancer Biology” Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
9 citations
,
July 2011 in “Scientific Reports” Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
3 citations
,
January 2017 in “Acta Dermato Venereologica” Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
5 citations
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September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
April 2012 in “Development” Rac1 is crucial for normal hair structure and pigmentation.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
2 citations
,
October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
76 citations
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April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
7 citations
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January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
7 citations
,
January 2025 in “Journal of Experimental & Clinical Cancer Research” PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
18 citations
,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
November 2007 in “Pediatrics in review” A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
2 citations
,
January 2022 in “Journal of Cosmetic Dermatology” QR678 Neo® is a safe and effective treatment for hair loss in men and women.
97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
3 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
1 citations
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August 2024 in “Animals” KRT85 gene variations can help improve wool traits in sheep through selective breeding.
15 citations
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April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.