68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
January 2023 in “Türkiye klinikleri adli tıp ve adli bilimler dergisi” DNA markers can help predict male pattern baldness, useful in criminal and missing person cases.
1 citations
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October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
140 citations
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October 2008 in “Nature Genetics” 174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
20 citations
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July 2005 in “Experimental dermatology” The fuzzy gene is crucial for controlling hair growth cycles.
11 citations
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November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
January 2013 in “International Journal of Biological Sciences” CRISPR-Cas9 successfully edited genes in Cashmere goats, affecting hair growth.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
89 citations
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August 2008 in “Human genetics” The EDAR gene greatly affects hair thickness in Asian populations.
2 citations
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January 1960 in “Australian Journal of Biological Sciences” The Naked gene in mice causes abnormal sebaceous glands and disrupts hair follicle organization.
8 citations
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December 2022 in “Journal of Translational Medicine” WNMFDDA effectively predicts drug-disease associations.
22 citations
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October 2004 in “Journal of Investigative Dermatology” The gene causing hair loss and heart issues in rough coat mice is still unknown.
1 citations
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May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
October 2022 in “Journal for Research in Applied Sciences and Biotechnology” Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.
7 citations
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January 2022 in “Animal Reproduction” Using rodents for research shows that health problems in the womb can cause diseases later in life.
48 citations
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May 2015 in “PLOS ONE” DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
9 citations
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November 1997 in “British Journal of Dermatology”
September 2023 in “Medicina-lithuania” The study suggests that analyzing DNA can help treat hair loss, but more research is needed.
1 citations
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September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
23 citations
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April 2010 in “Comparative Biochemistry and Physiology Part C Toxicology & Pharmacology” The piRNA pathway genes are crucial in early development and may influence sex differentiation through hormone regulation.
August 2025 in “Andrology” Abraham's family infertility may have a genetic explanation.
Researchers made a mouse model with curly hair and hair loss by editing a gene.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
1 citations
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December 2014 in “Zenodo (CERN European Organization for Nuclear Research)” The method effectively induces skin cancer in mice for studying tumor development.
64 citations
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February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.