95 citations
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September 2012 in “Oman Medical Journal” This review discusses the structure, types, and distribution of keratins and their role in tissue fragility disorders, particularly within the oral cavity, without presenting new clinical findings.
November 2025 in “Journal of Investigative Dermatology” Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
7 citations
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January 2013 in “Indian dermatology online journal” This report describes a rare case of a three-day-old male with ichthyosis hystrix type of epidermal nevus, featuring specific skin and hair symptoms but no nail or skeletal abnormalities.
16 citations
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September 2020 in “Journal of Internal Medicine” This review discusses the role of cellular heterogeneity and interaction in the skin's ability to maintain homeostasis despite cancer-causing mutations, noting the potential for these cells to also drive tumor formation, but reports no new clinical results.
1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.
March 2011 in “Open Archive (Karolinska Institutet)” This study explored the effects of a common Hutchinson-Gilford progeria syndrome mutation in an inducible mouse model, revealing skin abnormalities similar to those in affected patients.
66 citations
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January 2020 in “Acta Dermato Venereologica” This article reviews genetic advances in resolving inherited ichthyoses using next generation sequencing and notes that new sequencing methods may clarify unknown types in the future.
16 citations
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September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
4 citations
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July 2012 in “Linguistic Annotation Workshop” This study found that greater root surface area due to root hairs contributed to better growth and zinc uptake of wild-type barley compared to its root-hairless mutant in zinc-deficient soil.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” This case report discusses a patient with VHL-associated paraganglioma, highlighting the importance of genetic testing and monitoring in those with VHL disease, due to high mutation penetrance and associated risks.
January 2024 in “Doria (University of Helsinki)” This study found that in mouse pancreatic β-cells, the disruption of keratin filaments due to a specific mutation in keratin 18 resulted in altered GLUT2 localization, with less GLUT2 present on the plasma membrane compared to cells with normal keratin.
In this study, researchers discovered that the HrasG12V oncogenic mutation in murine skin epithelial cells initially promotes progenitor cell renewal but later leads to a balanced differentiation, stabilizing clone growth.
October 1998 in “Data Archiving and Networked Services (DANS)” This article discusses the structure and function of the skin's layers, cell types, and tumor development, without reporting new clinical findings, and highlights the growing incidence of skin cancer.
October 1998 in “RePub (Erasmus University, Rotterdam)” This article discusses the structure and function of the skin, the etiology and increasing incidence of skin cancer, and the types and prevalence of malignant skin tumors, but reports no new research findings.
333 citations
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March 2000 in “Proceedings of the National Academy of Sciences” In this study, researchers established that increased expression of the human GLI-1 gene in mouse skin leads to the development of tumors that closely resemble human basal cell carcinomas, without requiring additional mutations in the p53 or Ha ras genes.
4 citations
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January 2020 in “Dermatology Online Journal” In this report, a 1-year-old boy with congenital atrichia with papular lesions was found to have a complete absence of scalp and body hair and keratin-filled cysts due to a mutation in the hairless gene.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, early prenatal treatment with Minoxidil, a lysyl hydroxylase inhibitor, partly improved cardiac outflow tract septation in Tbx1 mutant mice, suggesting that inhibiting collagen cross-linking may mitigate some effects of Tbx1 mutation associated with DiGeorge syndrome.
August 2018 in “Illinois Digital Environment for Access to Learning and Scholarship (University of Illinois at Urbana-Champaign)” This research observed that chronological age, rather than hearing loss, primarily affects the auditory cortex in aging, and found that brain aging in PolG mice mirrored that of wild-type counterparts, suggesting differential tissue sensitivity to mitochondrial dysfunction.
8 citations
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June 2012 in “PloS one” This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.
21 citations
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January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
1 citations
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August 2022 in “Biomedicines” This review assesses the potential of dutasteride as a promising treatment for ALS due to its reported neuroprotective, antioxidant, and anti-inflammatory effects, but emphasizes that clinical studies are needed for confirmation.
1 citations
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October 2007 in “The Cancer Handbook” This narrative review discusses models for studying malignant melanoma, basal cell carcinoma, and squamous cell carcinoma, reporting no new experimental findings.
This review discusses the factors influencing human hair color, including genetic components and enzymatic activity, and highlights the forensic significance of hair color analysis, but reports no new findings.
21 citations
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April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
232 citations
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January 2013 in “Nature Cell Biology” Understanding where cancer cells come from helps create better prevention and treatment methods.
1 citations
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January 2012 in “Human health handbooks” This review discusses the factors influencing human hair color, including genetic components like the MC1R gene and enzyme activity, without presenting new experimental results.
63 citations
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May 2015 in “PloS one” This study found that GALT5 and GALT2 are redundant enzymes essential for O-glycosylation of AGPs, with mutations leading to significant growth and development defects in plants.
1 citations
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January 2022 in “Research Square (Research Square)” This study found that CRISPR/Cas9 efficiently edited two cellulose synthase-like genes in spinach, significantly altering root hair growth patterns and suggesting potential for large-scale genome editing in this crop.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.