13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
29 citations
,
January 2010 in “Methods in Enzymology” The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
4 citations
,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
January 2004 in “Molecular biotechnology” 45 citations
,
December 2004 in “Forensic Science International” Laser microdissection helps get DNA from single hair follicles for better forensic analysis.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
16 citations
,
February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
14 citations
,
February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
September 1997 in “Clinical and Experimental Dermatology” April 2024 in “American Journal of Biological Anthropology” Hair traits vary widely and are not reliable indicators of ancestry.
4 citations
,
March 2024 in “Forensic Sciences Research” Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
5 citations
,
June 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Putting thymidine dinucleotide on newborn mice's skin can delay and reduce skin cancer.
April 2010 in “Dermatology Times” 4 citations
,
July 2025 in “Annals of the New York Academy of Sciences” Combining skeletal and molecular anthropology improves identifying human remains.
56 citations
,
March 2015 in “Journal of Investigative Dermatology” Healthy mitochondria in skin cells are essential for proper hair growth and skin cell interaction in mice.
94 citations
,
July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
207 citations
,
July 2006 in “Development” MTS24 marks a new type of skin cell that helps hair growth and repair.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
3 citations
,
January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
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.
40 citations
,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
January 1990 in “Advances in forensic haemogenetics” Human hair protein patterns are inherited genetically.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
January 1999 in “Birkhäuser Basel eBooks” Metallothionein likely helps in cell growth and development in wool follicles of fetal sheep.
54 citations
,
January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.