8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
January 1999 in “Journal of Investigative Dermatology” 13 citations
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January 2023 in “Annual Review of Cancer Biology” Cancer risk is linked to the balance of mutations and environmental factors, not just the number of mutations.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
11 citations
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November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
March 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Suppressing very long chain fatty acids is linked to skin cancer.
September 2002 in “Fertility and sterility” Female relatives of PCOS patients have a higher chance of showing PCOS symptoms.
4 citations
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
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.
9 citations
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February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
4 citations
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
10 citations
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December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.
6 citations
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November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
25 citations
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June 2017 in “Journal of Investigative Dermatology” HPV8 causes skin cancer by expanding specific skin stem cells.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
203 citations
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November 1984 in “Journal of the American Academy of Dermatology” Common baldness is likely inherited through multiple genes, not just one.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
178 citations
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April 2011 in “Journal of Clinical Investigation” Basal cell carcinomas in mice can start from hair follicle stem cells and other skin cell types, depending on signaling levels.