January 2013 in “Faculty of Health; Institute of Health and Biomedical Innovation” Four genetic risk areas related to male-pattern baldness were identified, with WNT signaling playing a role in its development.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
77 citations
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June 2002 in “Journal of Investigative Dermatology” CD44 variant changes start alopecia areata, but don't maintain it.
4 citations
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August 2023 in “Journal of Investigative Dermatology” Certain genes influence the direction of hair whorls on the scalp.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
May 2008 in “Hair transplant forum international” A genetic test can identify people at risk of male pattern baldness early, allowing for quicker treatment.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
13 citations
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August 2000 in “Blood” Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.
5 citations
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December 2018 in “Frontiers in Endocrinology” Differences in androgen receptor expression and tissue properties may lead to higher cryptorchidism risk in certain rats.
January 2018 in “Journal of Investigative Dermatology” Blocking certain pathways with kinase inhibitors may help treat cutaneous lupus erythematosus.
April 2023 in “Journal of Investigative Dermatology” Dkk4 protein helps control how hair grows and its arrangement.
8 citations
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March 2015 in “Neuromuscular Disorders” People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” DKK2 and SOSTDC1 together are necessary for the normal timing of the first regression phase in the hair growth cycle.
11 citations
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December 2013 in “International Journal of Dermatology” IL16 gene variations may affect the risk of alopecia areata in Koreans.
74 citations
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October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
4 citations
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February 2015 in “Journal of Clinical Laboratory Analysis” A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
2 citations
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March 2023 in “Research Square (Research Square)” Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
208 citations
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November 2000 in “Development” Edar and Eda proteins are crucial for proper tooth development.
1 citations
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February 2021 in “Animal biotechnology” Certain changes in the KAP6-1 gene affect the thickness and length of cashmere goat fibers.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
11 citations
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
20 citations
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March 2021 in “Cancers” Certain genetic variants increase the risk of aggressive prostate cancer.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
March 2026 in “Journal of genetics and genomics/Journal of Genetics and Genomics” 6 citations
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March 2024 in “Journal of Clinical Laboratory Analysis” Certain genetic variations in IGF2BP2 and IGFBP3 are linked to a higher risk of PCOS.