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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
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March 1990 in “Journal of Investigative Dermatology” 1 citations
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October 1988 in “Clinics in Dermatology” Scientists identified and cloned specific keratin proteins in mouse hair.
January 2024 in “Wiadomości Lekarskie” Pemigatinib may be effective for treating ZMYM2::FGFR1 fusion-positive leukemia.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
January 2017 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.
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February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
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June 2019 in “Transplant infectious disease” The virus linked to a rare disease was found in a patient's blood and urine before skin symptoms appeared.
1 citations
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July 2024 in “Nanomedicine” Stem cell-derived vesicles improve blood vessel growth in limbs.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
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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.
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June 1994 in “Experimental Cell Research” mHa2 and mHa3 keratins have different structures and roles in mouse hair and tongue tissues.
April 2018 in “Journal of Investigative Dermatology” DNMT3A is crucial for healthy skin and hair growth.
January 2011 in “Anhui nongye kexue” The vector successfully directed specific gene expression in hair follicles.
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January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
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June 2023 in “International journal of biological macromolecules” Human hair proteins can help blood clot when mixed in equal parts.
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April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
January 1990 in “대한피부과학회지” Peanut agglutinin staining helps differentiate malignant melanoma from nevocellular nevus.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
128 citations
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March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
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August 1994 in “Journal of Investigative Dermatology” 5 citations
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March 2012 in “Journal of Investigative Dermatology” Vitamin D receptor and mediator 1 are crucial for healthy skin and hair growth.
July 2004 in “Transplantation” Iron deficiency is common in kidney transplant patients, and while iron treatment helps, it can cause high red blood cell levels.
1 citations
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November 2005 in “Dermatologic Surgery” Aminoguanidine increases VEGF in stored hair micrografts, potentially improving their viability after transplant.
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
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July 1993 in “Journal of Investigative Dermatology” 65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
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March 2017 in “Sultan Qaboos University medical journal” An infant had two different natural hair colors on the scalp with no health issues.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.