85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
February 2024 in “New phytologist” DNA changes in tetraploid wheat improve root growth and nitrogen use.
The research found how certain drugs and polymers form stable complexes, which could help develop new pharmaceutical forms.
January 2004 in “Analytical Sciences: X-ray Structure Analysis Online” The document explains how to make a compound called 3.BETA.-Benzoyloxy-4-pregnen-16.ALPHA.,17.ALPHA.-epoxy-6,20-dione and describes its crystal structure.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
2 citations
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April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
April 2024 in “Journal of clinical medicine” Classical PCOS types A and B are most common and linked to higher health risks.
14 citations
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February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
383 citations
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February 2011 in “Nature Reviews Genetics” DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
November 2020 in “Journal of The American Academy of Dermatology” The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
57 citations
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July 2000 in “Toxicology Letters” K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
5 citations
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January 2015 in “Molecular Genetics and Metabolism” 12 citations
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March 2004 in “Journal of Investigative Dermatology”
31 citations
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February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
3 citations
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May 2018 in “The Indian Journal of Animal Sciences” The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.
14 citations
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October 2017 in “Gene Expression Patterns” A new mouse model helps study melanocyte cells using GFP expression.
December 2024 in “Era s journal of medical research” Genetic variants in CYP genes may worsen PCOS symptoms.
46 citations
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June 2013 in “Journal of structural biology” High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
40 citations
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February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
September 1999 in “Molecular Carcinogenesis” Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Transglutaminase 2 may control sebocyte maturation and lipid metabolism.
January 2008 in “Vestnik Tomskogo gosudarstvennogo universiteta Filologiya” Overexpressing the Tβ4 gene in goats can increase cashmere production.
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.
63 citations
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May 2015 in “PloS one” GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.