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.
4 citations
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January 2021 in “International Journal of Medical Sciences” miR-182 may help treat hallux valgus by targeting FGF9.
January 2025 in “BMC Genomics” Long non-coding RNAs help regulate wool fineness in Gansu alpine fine-wool sheep.
7 citations
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May 2021 in “Animal Genetics” The CORIN gene variant causes the golden color in Siberian cats.
May 2022 in “The journal of immunology/The Journal of immunology” FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
2 citations
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October 2012 in “Experimental Dermatology” Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
Lhx2 helps retinal cells respond to signals for eye development.
60 citations
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September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
April 2023 in “Journal of Investigative Dermatology” AL136131.3 slows hair growth by affecting energy processes in hair loss.
40 citations
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June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
1 citations
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September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
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.
178 citations
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May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
12 citations
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February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
55 citations
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August 2013 in “PloS one” Genetic differences between young and old Tan sheep explain why their fleece changes from curly to straight as they age.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
2 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
January 2016 in “Memorial University Research Repository (Memorial University)” Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
64 citations
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March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
4 citations
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July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” BLMP-1 is important for regular molting and gene expression cycles in worms.
26 citations
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February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
1 citations
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September 2023 in “Genes” DNA methylation likely doesn't cause different lambskin patterns in Hu sheep.