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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
April 2018 in “Journal of Investigative Dermatology” The protein DDX6 helps keep skin cells renewing properly by controlling the production of certain other proteins and breaking down those that cause cells to mature too quickly.
January 2010 in “Acta Laboratorium Animalis Scientia Sinica” The UHS promoter is specific to mouse hair follicles.
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October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
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April 2015 in “InTech eBooks” RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
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September 2024 in “BMC Genomics” Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
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August 2007 in “American Journal of Pathology” Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
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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.
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February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
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August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
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May 2013 in “Journal of mammary gland biology and neoplasia” Hedgehog signaling is crucial for mammary gland development over hair follicles.
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
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August 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Hoxd gene regulation in mammals and birds is robust despite differences in DNA sequences, due to 3D chromatin structures.
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June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
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