18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
April 2023 in “Journal of Investigative Dermatology” The research mapped gene activity in developing mouse skin and found key markers for skin cell types and changes from fetal to early postnatal stages.
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.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists created a detailed map of gene activity in different parts of human hair follicles.
5 citations
,
January 2016 in “Genetics and molecular research” Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
A new genetic mutation was found causing hair and eye issues in a boy.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
January 2003 in “The Chinese Journal of Burns Wounds & Surface Ulcers” CK 19 expression is higher in more severe skin cancers.
January 2012 in “Faculty of Health; Institute of Health and Biomedical Innovation” Early-onset hair loss is linked to Parkinson's disease and decreased fertility.
31 citations
,
October 2018 in “Frontiers in Cell and Developmental Biology” The conclusion is that CD90 is not a specific marker for fibroblast subtypes and better methods are needed to identify them.
44 citations
,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
13 citations
,
September 2007 in “International Journal of Dermatology” Vitamin D receptor gene variations are not linked to alopecia areata.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
11 citations
,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
25 citations
,
October 2005 in “PubMed” Keratin 19 expression in certain skin cells is temporary and not a reliable stem cell marker.
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.
57 citations
,
July 2000 in “Toxicology Letters” K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
130 citations
,
January 2000 in “Nature biotechnology” 1 citations
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October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
4 citations
,
December 2012 in “Human Biology” The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.