1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
26 citations
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October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
20 citations
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November 2019 in “Stem Cells” This study found that deleting the Hes1 gene disrupts hair regeneration by delaying anagen initiation and shortening the anagen phase, suggesting it's crucial for maintaining hair cycle homeostasis.
89 citations
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March 1996 in “Proceedings of the National Academy of Sciences” This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.
4 citations
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April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study presents an improved reference genome for the African spiny mouse, which may aid in understanding its tissue regeneration at the molecular level.
73 citations
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June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the peach gene CTG134, involved in auxin-ethylene interactions, plays a role in hormonal regulation during root hair formation in Arabidopsis and tobacco.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the deletion of Med1 in dental epithelia causes a shift from dental to hair tissue development, suggesting the importance of Med1 in maintaining tissue-specific lineage.
5 citations
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January 2001 in “Journal of dermatological science” In this study, researchers found that the G(S)alpha subunit is strongly expressed in neonatal mouse hair follicles, indicating it may play a role in initiating follicle growth.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that apocynin restored COL17A1 expression in human keratinocytes and reduced UVB-induced cellular senescence, DNA damage, and cell cycle arrest.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies gene-regulatory networks related to genetic variants in skin and hair diseases, suggesting that dermal papilla cells are crucial in androgenetic alopecia.
April 2017 in “Journal of Investigative Dermatology” In this study, the authors concluded that the TS-associated polyomavirus may disrupt Wnt/β-catenin signaling, likely contributing to abnormal hair follicle formation in trichodysplasia spinulosa.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
53 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.
March 2024 in “Bioactive Materials” This study found that modifying adipose-derived stem cells to overexpress the adhesion protein JAM-A increased the adhesion and resilience of dermal papilla cells in the context of androgenic alopecia, potentially facilitating hair regrowth despite challenges such as damage from dihydrotestosterone and macrophages.
102 citations
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August 2008 in “Genes & Development” This study found that laminin-511 is crucial for hair morphogenesis in mice, as it influences primary cilia formation and dermal papilla maintenance through noggin and sonic hedgehog signaling.
December 2022 in “Frontiers in plant science” This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.
13 citations
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April 2020 in “Experimental Cell Research” This study found that knockdown of PCAT1 inhibited hair follicle regeneration in nude mice by disrupting the miR-329/Wnt10b axis and Wnt/β-catenin signaling, highlighting PCAT1's role in promoting follicle regrowth.
17 citations
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June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
38 citations
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April 2016 in “The Journal of Pathology” This study found that mice lacking alkaline ceramidase 1 with elevated skin ceramide levels showed disrupted skin homeostasis, including altered hair follicle structures, increased water loss, and a hypermetabolism phenotype.
9 citations
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December 2002 in “Novartis Foundation Symposium” In this research, LEF1 was identified as a crucial transcription factor for submucosal gland development in mouse and ferret tracheas, though it requires other factors to induce gland formation.
6 citations
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May 2013 in “PloS one” This study found that the Foxn1(-/-) nude phenotype significantly influences epithelial progeny in skin, with notable changes in stem cell niches not achievable in other models.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
195 citations
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November 2001 in “The Journal of Cell Biology” This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
22 citations
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July 1998 in “Journal of Investigative Dermatology” This study identified and characterized a gene called 4C32, which is expressed in the periderm of embryonic mouse skin and has a structure similar to keratin-associated proteins.
28 citations
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June 1995 in “The Journal of Dermatology” This study reports that flaky skin mice exhibit skin and nail features that closely resemble human psoriasis vulgaris, suggesting they may serve as a natural model for this condition.