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    Research 30 of 69

    1. Alopecia in Harlequin mutant mice is associated with reduced AIF protein levels and expression of retroviral elements Mammalian genome · 2020 · 4 citations
    2. A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification 2002 · 66 citations
    3. Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update Journal of Dermatological Science · 2012 · 52 citations
    4. Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. PubMed · 1997 · 27 citations
    5. MOUSE MODELS FOR THE STUDY OF HUMAN HAIR LOSS Dermatologic Clinics · 1996 · 36 citations
    6. Genetically modified laboratory mice with sebaceous glands abnormalities Cellular and Molecular Life Sciences · 2016 · 22 citations
    7. Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production Journal of Investigative Dermatology · 2019 · 40 citations
    8. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    9. Hair follicles modulate skin barrier function Cell Reports · 2024 · 9 citations
    10. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    11. Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia ˜The œAmerican journal of pathology · 2000 · 179 citations
    12. “Structural imprinting” of the cutaneous immune effector function Tissue Barriers · 2020 · 4 citations
    13. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin Genetics in medicine · 2018 · 10 citations
    14. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    15. Differential expression and functionality of ATP-binding cassette transporters in the human hair follicle British Journal of Dermatology · 2014 · 25 citations
    16. Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction International Journal of Molecular Sciences · 2015 · 16 citations
    17. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs Frontiers in pharmacology · 2023
    18. Autophagy Dysfunction: The Kernel of Hair Loss? Clinical Cosmetic and Investigational Dermatology · 2024
    19. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    20. Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency ˜The œAmerican journal of pathology · 2015 · 23 citations
    21. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i> JAMA dermatology · 2014 · 22 citations
    22. RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development Orphanet journal of rare diseases · 2022 · 5 citations
    23. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations
    24. Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes International journal of molecular sciences · 2023
    25. Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases Molecular Neurodegeneration · 2024 · 26 citations
    26. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    27. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    28. Characterization of X-Linked SNP genotypic variation in globally distributed human populations GenomeBiology.com (London. Print) · 2010 · 31 citations
    29. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    30. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations