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.
Defective protein folding due to a mutation is key in ANE syndrome.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
717 citations
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June 2010 in “Nature” Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
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.
106 citations
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
80 citations
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May 2011 in “Nature Cell Biology” New methods have greatly improved our understanding of stem cell behavior and roles in the body.
55 citations
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December 2021 in “BMC Veterinary Research” Certain genes in Iranian sheep are linked to wool production and heat adaptation.
13 citations
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July 2024 in “BMC Genomics” New genes and markers can help breed better cashmere goats.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
12 citations
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July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
8 citations
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May 2025 in “Biomolecules” Forensic genetics can now predict physical traits and lifestyle habits, with future advancements expected from new technologies.
7 citations
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March 2007 in “International Journal of Dermatology” Targeting FGFR-1 with antisense oligonucleotides may help treat baldness by increasing hair follicle activity.
5 citations
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March 2022 in “Clinical Cosmetic and Investigational Dermatology” The model accurately predicts skin conditions in Korean women using genetic information, aiding personalized skincare.
4 citations
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January 2024 in “Scientific Reports” Interferon therapy improves quality of life for chronic hepatitis B patients.
3 citations
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June 2025 in “Gyemyeong uidae haksulji” PDRN is effective and safe for healing wounds and skin issues.
3 citations
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August 2022 in “Archives animal breeding/Archiv für Tierzucht” Certain genetic changes in the KAP22-1 gene are linked to better wool quality in Egyptian sheep.
July 2025 in “International Journal of Molecular Sciences” Four new genes related to sheep wool were discovered, showing genetic diversity.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
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.
March 2022 in “Folia Medica Indonesiana” The lump on a woman's scalp was a rare, potentially cancerous tumor from the hair follicle, not a common cyst.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
124 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
101 citations
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September 2006 in “Journal of Biological Chemistry” Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
76 citations
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February 1993 in “Journal of Biological Chemistry” KAP6 genes are conserved across species and active in hair follicles.
76 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.