51 citations
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June 2021 in “Signal Transduction and Targeted Therapy” The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.
49 citations
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January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
60 citations
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July 2020 in “ACS Nano” Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.
April 2026 in “npj Parkinson s Disease” VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Esrp1 is important for skin health by helping form and maintain the skin barrier.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
2 citations
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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
1 citations
,
June 2015 in “Journal of anatomy” A compound named ZCZ90 can increase muscle spindle firing, potentially helping treat muscle spasms and hypertension.
4 citations
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July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
54 citations
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November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
Pangenome analysis reveals key genes for pig adaptation and traits, aiding genetic improvement.
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
October 2014 in “Dialnet (Universidad de la Rioja)” Snail2 is crucial for hair growth and affects skin cancer development.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
January 2006 in “OpenCommons at University of Connecticut (University of Connecticut)” Overexpressing AVP1 and AtNHX1 in plants improves salt tolerance and root hair development.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
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.
23 citations
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January 2014 in “International Journal of Biological Sciences” African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Male hormones and reduced plakoglobin can impair heart electrical function and increase arrhythmia risk in males.
November 2025 in “Molecular and Cellular Biomedical Sciences” There is no significant link between the MMP-1 rs1799750 polymorphism and androgenetic alopecia in the Indonesian population.
1 citations
,
April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.