81 citations
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June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
49 citations
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January 2013 in “Dermatologic Therapy” This review discusses the varying neonatal presentations of Mendelian disorders of cornification (ichthyosis) based on phenotypic groups but reports no new clinical results; the authors suggest categorizing these presentations to guide diagnosis and treatment.
January 2026 in “International Journal of Science and Research (IJSR)” This source discusses ichthyosis, a disorder causing dry, scaly skin, by exploring its genetic causes, potential systemic associations, and treatments, and correlates modern medical insights with Unani medicine principles focused on humoral balance and holistic care.
This review discusses the cornification process of epidermal keratinocytes in forming the skin barrier and reports no new results; it emphasizes the importance for diagnosis and treatment of skin disorders.
January 2015 in “Springer eBooks” Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the formation and goals of the Pediatric Dermatology Research Alliance (PeDRA) but reports no new clinical results; it emphasizes collaborative research to advance treatment options for pediatric skin disorders.
18 citations
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January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
December 2025 in “Italian Journal of Anatomy and Embryology” This narrative literature review examined how linking embryonic development with non-genetic skin anomalies can improve diagnostic accuracy, guide prenatal counseling, and enrich dermatology education by revealing specific vulnerabilities in skin morphogenesis and supporting advances in regenerative medicine.
1 citations
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July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
October 2020 in “Veterinary Dermatology” This review discusses autoimmune blistering diseases across species and highlights new treatment efficacy findings and ongoing trials, but it reports no new clinical results.
2 citations
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July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
9 citations
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August 2021 in “Journal of clinical medicine” This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.
51 citations
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August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that Wnt secretion is important for maintaining skin homeostasis in mice, as Evi-deficient mice developed psoriasis-like skin lesions and had an imbalance in immune cell populations.
November 2023 in “Frontiers in pharmacology” This review highlights the ongoing need for novel treatments for autosomal recessive congenital ichthyoses, suggesting that drug repositioning, utilizing existing medications or biologics, could provide more affordable and effective options for managing this lifelong skin condition.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
34 citations
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August 2019 in “Journal of Allergy and Clinical Immunology” mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
23 citations
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December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
47 citations
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March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
27 citations
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July 2017 in “Scientific Reports” This study found that conditional knockout of N-WASP in keratinocytes of mice led to skin barrier defects, increased immune cell infiltration, and hyperproliferation of keratinocytes, indicating its crucial role in skin homeostasis.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
99 citations
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July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
21 citations
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November 2022 in “Frontiers in immunology” This article reviews sebaceous immunobiology and highlights the complex role of sebaceous glands and sebocytes in skin barrier function and inflammation, particularly in acne pathogenesis, but reports no new results.
18 citations
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June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” In this mouse study, hair growth defects associated with the Gk5 null allele were partially alleviated by simvastatin treatment, suggesting GK5 plays a key role in skin-specific cholesterol regulation.
8 citations
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January 1996 in “Springer eBooks” This article discusses the minimal research on hair growth physiology and highlights Dr. Masumi Inaba's contributions to understanding androgenetic alopecia, but reports no new experimental results.
196 citations
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March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
90 citations
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January 1979 in “International review of cytology” This chapter reviews the complexity of hair and wool follicle formation, emphasizing the importance of cytological studies to understand the relationship between cellular components.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.