8 citations
,
May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
117 citations
,
August 1999 in “Nature Genetics”
85 citations
,
June 2015 in “Scientific Reports” The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
The agouti gene may help understand and treat obesity.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
January 2004 in “Linchuang pifuke zazhi” Black hairs have more pigment-related genes, while gray hairs have more keratin-related genes.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
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.
5 citations
,
March 2005 in “Journal of The American Academy of Dermatology”
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
1 citations
,
June 2022 in “Journal of Cosmetic Dermatology” Two specific genetic markers increase the risk of hair loss in Asian populations.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
March 2024 in “Dermatology and therapy (Internet)” Genetic factors could lead to personalized treatments for hair loss.
41 citations
,
October 2011 in “Clinical and Experimental Dermatology” G allele of AR Stul polymorphism linked to higher hair loss risk, especially in white people.
3 citations
,
August 2022 in “Biochemical Genetics”
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.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
November 2025 in “Journal of Investigative Dermatology” Tanning ability is linked to specific DNA changes in skin genes.
9 citations
,
June 2024 in “BMC Genomics” Wool color in Gangba sheep is influenced by multiple genes and genetic mechanisms.
32 citations
,
November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
98 citations
,
June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.