June 2009 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Lrig1 marks a unique group of stem cells in mouse skin that can become different skin cell types.
33 citations
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January 1997 in “Journal of Investigative Dermatology”
14 citations
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February 2018 in “Psychoneuroendocrinology” Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
April 2017 in “Journal of Investigative Dermatology” PRC1 influences skin stem cell development by both turning genes on and off, affecting hair growth and skin cell types.
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet2 and Tet3 enzymes are essential for controlling hair growth by affecting DNA demethylation and gene expression in mice.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
6 citations
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December 2019 in “Frontiers in genetics” GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
S1PR1 helps control inflammation in blood vessel cells by affecting gene activity differently in various cell types and locations.
This case report describes a 72-year-old woman with obstructive sleep apnea syndrome (OSAS) linked to a novel genetic variant, c.980_984dup, in the COL1A2 gene, marking the first documented instance of hereditary OSAS due to this mutation. The patient, who had a history of insomnia and other medical issues such as joint hypermobility and hair loss, showed improvement with nocturnal active positive airway pressure treatment. Her son also developed OSAS, prompting genetic testing that identified the COL1A2 mutation. This finding suggests that OSAS can be hereditary and associated with connective tissue disorders, highlighting the importance of genetic testing in patients with a family history of OSAS.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
11 citations
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May 1996 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The main enzyme found in pubic skin that could be targeted to treat excessive hair growth is 5 alpha-R2.
October 2023 in “Cell & bioscience” A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
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.
6 citations
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January 2014 in “Genetics and Molecular Research” The method successfully created stable transfection donor cells for goat hair follicle research.
2 citations
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January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
14 citations
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April 2016 in “PloS one” The KRTAP11-1 gene promoter is crucial for specific expression in sheep wool cortex.
41 citations
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January 2015 in “Development” Atoh1 expression can create new Merkel cells in the skin.
January 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” AP-2α and AP-2β are crucial for healthy skin and hair.
51 citations
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December 2006 in “Mammalian Genome” August 2025 in “BMC Pharmacology and Toxicology” The LTF gene may help predict and manage nonspecific orbital inflammation.
January 2012 in “ScholarlyCommons (University of Pennsylvania)” miRNAs are crucial for hair growth and skin health.
132 citations
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August 2008 in “Development” Dlx3 is essential for hair growth and regeneration.