2 citations
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October 1961 in “Experimental Biology and Medicine” This study found that rabbits fed a diet deficient in Vitamin E developed severe muscular dystrophy that was not fully prevented by adding selenium, Vitamin E supplements, or natural feedstuffs, indicating other nutritional deficiencies.
17 citations
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November 1967 in “American Journal of Anatomy” This study observed that the catagen phase in hairless mice displayed a slower shortening of the mutant epithelial column, resulting in longer total follicle length and abnormalities in the connective tissue sheath and glassy membrane.
January 2025 in “PLoS ONE” This study found that ING5 knockout mice are prone to developing lymphomas and severe dermatitis, suggesting ING5 plays a role in tumor suppression and stem cell maintenance in vivo.
9 citations
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June 2016 in “The Cerebellum” April 2018 in “DSpace@MIT (Massachusetts Institute of Technology)” Nephronectin is linked to worse outcomes in breast cancer and helps cancer spread.
April 2016 in “Journal of Investigative Dermatology” Iron deficiency causes hair loss by affecting hair differentiation and cycling.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.
3 citations
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March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” This study in hairless rats suggests that the deletion of specific hair keratin genes contributes to hypotrichosis and highlights the strain's potential as a model for hair follicle research.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
January 2000 in “Medical Entomology and Zoology” 11 citations
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March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that hair loss in an Olmsted syndrome mouse model with a Trpv3 mutation was linked to premature keratinocyte maturation, affecting hair follicle structure and function.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
July 2012 in “American Journal of Clinical Pathology” This case report describes a 15-month-old girl with a history of dermatitis, eosinophilic esophagitis, and failure to thrive, leading to a suspected diagnosis of Netherton syndrome.
147 citations
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September 2006 in “Developmental Cell” This study found that Smad7 perturbs hair follicle development while promoting sebaceous gland formation by antagonizing Wnt/β-catenin signaling in transgenic mice.
15 citations
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May 2014 in “Journal of Biological Chemistry” In this study, targeting the expression of a keratin KRT5/KRT8 chimeric cDNA in keratin-deficient mice partially restored structural defects in epidermal cells, but did not fully normalize skin health.
1 citations
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April 2017 in “Journal of Investigative Dermatology” ZNF750 and MPZL3 are important in causing seborrheic dermatitis.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that correcting the HGPS mutation with Adenine base editing partially rescued accelerated skin cell differentiation and reduced cell death in patient-derived stem cells.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the ablation of Tet2/Tet3 genes in mouse skin epithelial cells led to altered hair shape and length, highlighting their role in regulating hair follicle gene expression and chromatin structure.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that knocking out the Hars2 gene in mouse cochlear hair cells led to mitochondrial dysfunction and ROS stress, resulting in progressive hearing loss and differential effects on inner and outer hair cells.
January 2026 in “MDPI (MDPI AG)” This study revealed that heterozygous mice with the hairy ear mutation exhibited significant gene expression changes related to hair growth, such as upregulation of hair keratin and keratin-associated proteins, shedding light on the Hoxc gene cluster's role in this phenotype.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that DHHC13 is crucial for hair anchoring and skin barrier function, with its deficiency in Zdhhc13(skc4) mice leading to cyclic alopecia and skin abnormalities due to cornifelin deficiencies.
May 2025 in “International Journal of Trichology” This case report highlights a 7-year-old boy with suspected Netherton syndrome who presented with itchy lesions, hair abnormalities, and elevated immunoglobulin E levels. The authors report complete resolution of symptoms with oral Acitretin after failed methotrexate treatment.
3 citations
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June 2001 in “Journal of Zoo and Wildlife Medicine” This case study reported that after removal of an interstitial cell tumor from a ruffed lemur, the animal experienced improved coat quality and a return to normal behavior without signs of cancer spread.
January 2026 in “Indian Journal of Paediatric Dermatology” This case report describes a rare co-existence of Becker nevus and plexiform neurofibroma in a child with genetically confirmed neurofibromatosis type 1, offering insights into the potential cellular and molecular links between these lesions.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
July 2024 in “Russian Journal of Child Neurology” This study observed that among children with neurofibromatosis type 1 in Russia, selumetinib treatment led to a partial reduction in plexiform neurofibroma volume in 65% of cases, with 56% showing a long-term response without surgery; common side effects included skin rash and hair issues.
25 citations
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December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
2 citations
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May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.