7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased energy use in Pik3r1-related insulin resistance isn't due to Ucp1 thermogenesis.
April 2024 in “Anais Brasileiros de Dermatologia”
4 citations
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May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
3 citations
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March 2014 in “Journal of Industrial Microbiology & Biotechnology” Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
July 2025 in “Journal of Investigative Dermatology” 91 citations
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July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
12 citations
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
1 citations
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January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
7 citations
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March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
6 citations
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December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
17 citations
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April 2011 in “Journal of Dermatological Science” The study created a mouse model that survives longer and shows fewer symptoms of pemphigus vulgaris.
17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
140 citations
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October 2008 in “Nature Genetics” 26 citations
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June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
4 citations
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February 2023 in “Research Reports in Clinical Cardiology” Certain genes and high cholesterol levels increase heart disease risk in Ethiopian patients with high blood pressure.
September 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Loss of Desmocollin 3 in mice causes skin blisters and hair loss.
December 2025 in “Anatomy (International Journal of Experimental and Clinical Anatomy)” Palmaris longus muscle absence is uncommon and not linked to gender, hand side, or finger ratio.
30 citations
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October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
3 citations
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July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
9 citations
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November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
28 citations
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August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
37 citations
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April 2010 in “FEBS Letters” The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.