13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
April 2026 in “npj Parkinson s Disease” VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
6 citations
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March 1996 in “Journal of Investigative Dermatology”
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
41 citations
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July 2016 in “Journal of Investigative Dermatology” Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
2 citations
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August 2023 in “Die Dermatologie” Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
5 citations
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May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
2 citations
,
January 2010
February 2024 in “Research Square (Research Square)” The research suggests that SFRP2 and PTGDS proteins might be indicators of female pattern hair loss and could contribute to hair loss.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
June 2024 in “Archives of Dermatological Research” SFRP2 and PTGDS may be key factors in female hair loss.
16 citations
,
September 2014 in “International Journal of Biological Markers” Longer CAG and GGN repeats increase alopecia risk, but no significant link to post-finasteride syndrome found.
3 citations
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April 2022 in “Research Square (Research Square)” PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
91 citations
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July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
15 citations
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January 1991 in “Mammalian Genome” A specific gene change in APCDD1 increases the risk of hair loss.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
July 2016 in “Experimental Dermatology” New treatments for hair growth and psoriasis may be possible, and gene differences could affect baldness and the severity of skin conditions.