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    Research 30 of 133

    1. Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia American Journal of Medical Genetics · 2014 · 35 citations
    2. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    3. Molecular basis of hypohidrotic ectodermal dysplasia: an update Journal of Applied Genetics · 2015 · 85 citations
    4. Identification of dkk4 as a target of Eda-A1/Edar pathway reveals an unexpected role of ectodysplasin as inhibitor of Wnt signalling in ectodermal placodes Developmental biology · 2008 · 117 citations
    5. Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update Journal of Dermatological Science · 2012 · 52 citations
    6. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    7. Ectodysplasin Signaling in Cutaneous Appendage Development: Dose, Duration, and Diversity 2009 · 9 citations
    8. Laminin-511 is an epithelial message promoting dermal papilla development and function during early hair morphogenesis Genes & Development · 2008 · 102 citations
    9. Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging American Journal of Medical Genetics - Part A · 2013 · 15 citations
    10. Cutaneous Retinoic Acid Levels Determine Hair Follicle Development and Downgrowth 2012 · 31 citations
    11. Sostdc1 defines the size and number of skin appendage placodes Developmental biology · 2012 · 56 citations
    12. Wnt10b Regulation of Hair Follicle Development, Regeneration, and Skin Diseases Stem Cell Reviews and Reports · 2025 · 1 citations
    13. Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart Development · 2003 · 125 citations
    14. A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype ˜The œAmerican journal of pathology · 2014 · 11 citations
    15. Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice Experimental Dermatology · 2016 · 3 citations
    16. Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes ˜The œAmerican journal of pathology · 2010 · 35 citations
    17. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    18. Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development. Blood · 2004 · 2 citations
    19. Advances in genetic and molecular understanding of Omenn syndrome - implications for the future Expert opinion on orphan drugs · 2018 · 2 citations
    20. A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice. Proceedings of the National Academy of Sciences · 1996 · 89 citations
    21. Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3 ˜The œAmerican journal of pathology · 2015 · 5 citations
    22. An essential role for <i>Rxrα</i> in the development of Th2 responses European Journal of Immunology · 2005 · 50 citations
    23. Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome 2016
    24. Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations Journal of Clinical Immunology · 2021 · 30 citations
    25. Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency Endocrine journal · 2019 · 13 citations
    26. Replicative stress, stem cells and aging Mechanisms of Ageing and Development · 2008 · 70 citations
    27. Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss Cell Stem Cell · 2007 · 688 citations
    28. Mechanisms regulating skin immunity and inflammation Nature Reviews Immunology · 2014 · 610 citations
    29. Leucine-Rich Repeat-Containing G-Protein-Coupled Receptors as Markers of Adult Stem Cells Gastroenterology · 2010 · 291 citations
    30. Epigenetic control of adult stem cell function Nature Reviews Molecular Cell Biology · 2016 · 179 citations