53 citations
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March 2006 in “Biopolymers” TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
31 citations
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September 1999 in “Molecular Carcinogenesis” Increased ornithine decarboxylase makes normally tumor-resistant mice more sensitive to tumors.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
12 citations
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November 2014 in “Bioscience, Biotechnology, and Biochemistry” Genetically modifying a bacteria and changing its growth conditions significantly increased the production of a chemical called dipicolinic acid.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
January 2025 in “Nanoscale” Boron/nitrogen-doped carbon nano-onions improve targeted breast cancer treatment by enhancing drug delivery and reducing side effects.
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
March 2007 in “Journal of Cell Science” K10 may not prevent tumors as previously thought and might increase benign tumor risk.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The N-K GM Series offers a new method to reduce aflatoxin poisoning and cancer, improving health and saving costs in affected regions.
The study concludes that Twenty-nail dystrophy is more common in boys among children and in women among adults, with varying response to treatment.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
February 2010 in “Journal of The American Academy of Dermatology” NB-002 is a promising new topical treatment for fungal nail infections, showing better results than a non-medicated option.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
October 2020 in “System Dynamics Review” The document concludes that finasteride can reduce nandrolone detection in doping tests, suggesting frequent testing and setting metabolite level thresholds for detection.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
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.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
12 citations
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March 1995 in “Journal of the American Chemical Society” Finasteride modifies 5-alpha-reductases through a two-step process, affecting inhibitor potency and possibly causing side effects.
January 2024 in “Skin Appendage Disorders”