100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
31 citations
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October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
2 citations
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August 2024 in “Molecular Genetics & Genomic Medicine” Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
10 citations
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January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
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.
13 citations
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August 1985 in “The Journal of Dermatology” HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells and certain hair follicle areas produce hemoglobin, which may help protect against oxidative stress like UV damage.
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August 1988 in “Journal of Investigative Dermatology”
1 citations
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April 2017 in “Journal of Investigative Dermatology” A new one-step test can quickly identify skin cancer during surgery.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
26 citations
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
5 citations
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June 2024 in “Experimental Dermatology” High beta-hydroxybutyrate levels may worsen hair loss in alopecia areata.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
7 citations
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June 1989 in “Steroids” Researchers successfully made new compounds for hormone level tests, but one attempt led to an unexpected product, correcting a past error.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
139 citations
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December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” K6hf is a unique protein found only in a specific layer of hair follicles.
12 citations
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April 2019 in “Scientific Reports” A protein called HMGB1 helps hair grow by affecting prostaglandin metabolism.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
1 citations
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April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Topical patidegib gel effectively treats basal cell carcinoma in Gorlin syndrome patients without causing the side effects seen with oral treatments.
33 citations
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October 1996 in “Journal of Investigative Dermatology” 8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
78 citations
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November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.