June 2024 in “Skin Research and Technology” hsa-miR-193a-5p may help diagnose and treat alopecia areata.
Hairlessness in mammals is caused by combined changes in genes and regulatory regions.
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.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
58 citations
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December 2018 in “Nature Communications” Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
23 citations
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April 2010 in “Comparative Biochemistry and Physiology Part C Toxicology & Pharmacology” The piRNA pathway genes are crucial in early development and may influence sex differentiation through hormone regulation.
August 2018 in “Journal of Investigative Dermatology” Centrosomes are essential for healthy skin and hair growth, and their role is different from that of cilia.
July 2024 in “Egyptian Journal of Medical Human Genetics” These gene variations are not linked to alopecia areata in Egyptians.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that a key immune pathway protecting hair follicles is reduced in a mouse model of scarring hair loss.
7 citations
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September 2017 in “Scientific Reports” Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.
210 citations
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February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
3 citations
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December 2020 in “Scientific reports” Mitochondrial problems in tooth cells lead to bad enamel and dentin development in mice.
January 2011 in “The Chinese Journal of Dermatovenereology” Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
January 2020 in “JAAD case reports” Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.
2 citations
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January 1960 in “Australian Journal of Biological Sciences” The Naked gene in mice causes abnormal sebaceous glands and disrupts hair follicle organization.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
November 2025 in “Clinical and Translational Medicine” DNAJB9 cfRNA could help diagnose and treat female hair loss.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
4 citations
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
27 citations
,
February 2020 in “EMBO Reports” MEX3A is crucial for maintaining intestinal stem cells in mice.
5 citations
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March 2009 in “Pediatric Dermatology” The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
October 2012 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Six new genes linked to early hair loss were found, which also surprisingly connect to Parkinson's disease and lower fertility.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
5 citations
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May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
16 citations
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April 2007 in “Journal of Medical Primatology” The monkey's hair loss was due to an autoimmune disease, not genetics.
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.
August 2001 in “The Journal of Cell Biology” A new keratin gene was found in mice, explaining hair growth.