2 citations
,
December 2022 in “The Journal of Dermatology” Patients with hidradenitis suppurativa have higher levels of cell-free DNA in their blood.
24 citations
,
June 2012 in “BMC Research Notes” The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
September 2016 in “Journal of dermatological science” HAP stem cells can repair nerves and spinal cords by becoming Schwann cells.
8 citations
,
April 1997 in “Experimental Dermatology” hHbl gene is active in hair shaft cells and some pilomatricomas.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
1 citations
,
January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
May 2024 in “The Journal of Immunology” IL-27 can prevent hair loss in alopecia areata.
5 citations
,
March 2023 in “Archives of dermatological research” Increased HIF-1α is linked to the inflammation and severity of hidradenitis suppurativa, suggesting treatments that lower HIF-1α could help.
April 2018 in “Journal of Investigative Dermatology” 15 citations
,
May 2017 in “Journal of Cellular Biochemistry” The hairless protein is important for skin, hair, and may influence cancer development.
1 citations
,
January 2022 in “Dermatology Research and Practice” Higher CD70 and CD27 gene expression in alopecia areata lesions predicts disease severity and activity.
41 citations
,
May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
22 citations
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June 2008 in “Experimental Dermatology” Heparanase is essential for hair follicle health and inner root sheath differentiation.
10 citations
,
May 2018 in “Cell death discovery” HSP90 and lamin A/C are crucial for hair growth and could be targets for treating hair loss.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
4 citations
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September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.