September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
24 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Two new proteins, hKAP1.6 and hKAP1.7, are found in the hair follicle cortex.
September 2024 in “Journal of Cosmetic Dermatology” Ectoin helps prevent cortisone-induced skin problems and supports skin health.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” PPARγ signaling modulation can protect hair follicle stem cells from chemotherapy-induced damage.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
January 2019 in “Columbia Academic Commons (Columbia University)” TRPV3 and TRPV6 channels change structure to regulate calcium and heat responses.
July 2022 in “Journal of Investigative Dermatology” 21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
2 citations
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February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
10 citations
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December 2015 in “International Journal of Molecular Sciences” PDCD4 is important for controlling skin cell growth and healing.
125 citations
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August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
14 citations
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April 2017 in “Scientific Reports” Using a perfusion system and 3D spheroid culture improves the growth of corneal cell layers for tissue engineering.
77 citations
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September 2017 in “Journal of Investigative Dermatology” TRPV3 in skin cells causes inflammation and cell death.
September 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Special gut cells help stem cells move to and fix injured areas by activating a specific signaling pathway.
April 2026 in “Human Genome Variation” This study reports on a Pakistani family with three individuals affected by IFAP syndrome type I, linked to the recurrent MBTPS2 splice-site variant c.970+5G>A. This variant has also been identified in Chinese and Argentinian families. Haplotype analyses indicate that this is a recurrent mutational hotspot rather than a result of a founder effect. The study also notes variability in phenotypic severity among the families, suggesting the presence of additional modifying factors.
51 citations
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February 2004 in “Journal of Investigative Dermatology” MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
7 citations
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September 2003 in “Journal of Investigative Dermatology” PAR-1 may play a role in hair growth regulation in human hair follicles.
9 citations
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November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
27 citations
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February 2020 in “EMBO Reports” MEX3A is crucial for maintaining intestinal stem cells in mice.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
1 citations
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February 2023 in “Pharmaceutics” Cell proteomic footprinting enhances cancer vaccine quality by ensuring correct antigen composition.
11 citations
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June 2017 in “Journal of cell science” AGD1's PH domain is essential for its role in root hair growth and polarity.
14 citations
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January 2011 in “Journal of Cutaneous Pathology” CK15 is not a reliable marker for stem cells in damaged hair follicles from patients with CCCA.
48 citations
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February 2010 in “Molecular biology reports” KAP7.1 and KAP8.2 genes are crucial for cashmere quality in goats.
13 citations
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January 2018 in “Advances in experimental medicine and biology” 9 citations
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June 2014 in “Molecular biology reports” KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.
April 2018 in “Journal of Investigative Dermatology” Nonmelanoma skin cancers have higher levels of certain osteopontin variants than normal skin.