15 citations
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December 2017 in “Journal of Investigative Dermatology” No strong genetic link to other skin conditions was found, but some genetic factors may make people more likely to get seborrheic dermatitis.
March 2024 in “Research Square (Research Square)” The TT genotype of a specific SNP in sheep is linked to better wool quality.
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.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Desmoglein 3 is important for keeping hair follicle stem cells inactive and maintaining their special properties.
131 citations
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March 2004 in “The American journal of pathology” Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
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.
118 citations
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June 1993 in “Journal of Biological Chemistry” Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
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.
9 citations
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April 2006 in “American Journal of Pathology” SGK3 is essential for proper hair growth and health.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
February 2026 in “International Journal of Molecular Sciences” Muscarinic acetylcholine receptors in skin cells help regulate and promote hair growth.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
May 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D affects Msx1 protein expression and may influence mineralized tissue health.
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
2 citations
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February 2022 in “Human Gene Therapy” Increasing miR-149 reduces hair follicle stem cell growth and hair development by affecting certain cell growth pathways.
32 citations
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March 2014 in “PLOS ONE” Mice lacking fibromodulin have disrupted healing patterns, leading to abnormal skin repair and scarring.
August 2024 in “Life Science Alliance” Helminth protein helps wounds heal better by reducing scarring and promoting tissue growth.
117 citations
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
78 citations
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October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
Understanding genetics is crucial for treating heart and skin diseases.
1 citations
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July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
54 citations
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
16 citations
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September 2006 in “The Journal of Immunology” MILL molecules are unique immune proteins in mice that don't need TAP to appear on cell surfaces.
June 2008 in “Wound Repair and Regeneration” Msx-2 gene removal speeds up skin wound healing in mice.