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    Research 691–720 of 1000+

    1. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    2. Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets JDR Clinical & Translational Research · 2017 · 12 citations
    3. Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation Pigment Cell & Melanoma Research · 2010 · 6 citations
    4. Mutations in Homocysteine Metabolism Genes Increase Keratin <i>N</i>-Homocysteinylation and Damage in Mice International journal of genomics · 2018 · 5 citations
    5. GTL1 is required for a robust root hair growth response to avoid nutrient overloading bioRxiv (Cold Spring Harbor Laboratory) · 2021 · 1 citations
    6. Hidradenitis Suppurativa/Acne Inversa/Dissecting Terminal Hair Folliculitis Springer eBooks · 2019 · 1 citations
    7. ER-located Ca2+ ATPase ACA2 regulates Ca2+ cytoplasmic pool linked to root hair growth in Arabidopsis thaliana bioRxiv (Cold Spring Harbor Laboratory) · 2026
    8. Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images Clinical Case Reports · 2025
    9. Can you diagnose hair loss (Non-scarring alopecia) Pathology · 2014
    10. The color of human hair 2011
    11. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    12. Defective trophoblast function in mice with a targeted mutation of Ets2 Genes & Development · 1998 · 301 citations
    13. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    14. Atrichia with papular lesions resulting from mutations in the rhesus macaque (<i>Macaca mulatta</i>) <i>hairless</i> gene Laboratory Animals · 2002 · 20 citations
    15. The effect of testosterone, cyproterone acetate, and minoxidil on hair loss in the androchronogenetic alopecia mouse Clinics in dermatology · 1988 · 12 citations
    16. Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion Journal of Clinical Medicine · 2021 · 4 citations
    17. Alopecia universalis with IL-12-RB1 and STAT4 mutations effectively treated with upadacitinib JAAD Case Reports · 2024
    18. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
    19. A protein kinase target of a PDK1 signalling pathway is involved in root hair growth in Arabidopsis The EMBO Journal · 2004 · 280 citations
    20. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    21. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    22. Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome Blood · 2016 · 4 citations
    23. Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case Clinical Genetics · 2004 · 26 citations
    24. SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor Journal of the Endocrine Society · 2019
    25. The <i>IRE</i> gene encodes a protein kinase homologue and modulates root hair growth in <i>Arabidopsis</i> The Plant Journal · 2002 · 66 citations
    26. 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28 Journal of the American Academy of Dermatology · 2023
    27. The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles. PubMed · 2011 · 52 citations
    28. Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice Biomedicine & Pharmacotherapy · 2025
    29. Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency Journal of Investigative Dermatology · 2003 · 42 citations
    30. Successful management of Netherton syndrome using IVIG and dupilumab: A case report Journal of Allergy and Clinical Immunology Global · 2025 · 1 citations