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.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
2 citations
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August 2022 in “Animals” Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
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.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
7 citations
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September 2019 in “Journal of Investigative Dermatology” November 2025 in “Journal of Investigative Dermatology” Certain CD8+ T cells attack hair follicles in alopecia areata, suggesting they could be targeted for treatment.
5 citations
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January 2016 in “Dermatology” No significant link between CAG repeat numbers and female pattern hair loss in Han Chinese population.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
1 citations
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December 2015 in “Balkan Journal of Medical Genetics” Genetic screening can help diagnose and manage infertility in Slovenian couples.
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.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
August 2023 in “Research Square (Research Square)” Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
10 citations
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January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
June 2023 in “International Journal of Research in Dermatology” Certain gene variations are linked to severe acne in Egyptian patients and could guide treatment choices.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
March 2016 in “West Indian medical journal” There is no significant link between alopecia areata and the PON1 enzyme polymorphisms studied.
136 citations
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
1 citations
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December 2022 in “BMC Genomics” The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
October 2011 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Certain gene variations are significantly linked to hair loss, especially in white people.
January 2025 in “EXPERIMENTAL ANIMALS” Gamma-ray exposure improves genome editing efficiency in mice using the i-GONAD method.
18 citations
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January 2013 in “PLoS ONE” HLA-DRB5 and other genes may be linked to alopecia universalis.
Certain gene variations and different levels of BDNF and CRH hormones are linked to vitiligo.
51 citations
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January 2007 in “Animal Genetics” The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
23 citations
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December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.