3 citations
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
87 citations
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July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
February 1985 in “PubMed”
106 citations
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
February 2024 in “Journal of Investigative Dermatology” Deleting NIPP1 in mouse skin cells causes early aging and chronic skin issues.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
4 citations
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September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
21 citations
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November 2017 in “Livestock science” Nellore cattle have genetic variations linked to their adaptation to tropical environments.
7 citations
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August 2020 in “Animal biotechnology” A specific RNA in cashmere goats helps improve hair growth by interacting with certain molecules.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
132 citations
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February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
January 2023 in “European journal of gynaecological oncology” KRT17 may be a new target for endometrial cancer treatment because it helps cancer cells move and form new blood vessels.
37 citations
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August 2000 in “Journal of Cutaneous Pathology” Poromas are related to sweat duct cells, and CK patterns help distinguish apocrine poromas from other neoplasms.
April 2018 in “Journal of Investigative Dermatology” Nonmelanoma skin cancers have higher levels of certain osteopontin variants than normal skin.
1 citations
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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.
November 2013 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Keratin 79 cells help form and regenerate hair canals.
95 citations
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March 2009 in “Differentiation” Gene expression in wool follicles changes with growth cycles, offering insights into wool and human hair growth.
July 2024 in “Journal of Investigative Dermatology” DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
1 citations
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May 2023 in “Biochemical and Biophysical Research Communications” Blocking DKK1 with siRNA can improve hair growth.
56 citations
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December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
21 citations
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December 1991 in “Annals of the New York Academy of Sciences” Most mouse hair keratin genes are on chromosomes 11 and 15.
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
129 citations
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October 2017 in “BMC Genomics” The study improved understanding of gene roles in cashmere goat hair growth, aiding future cashmere production.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.