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    Research 571–600 of 1000+

    1. Towards Defining the Pathogenesis of the Hairless Phenotype Journal of Investigative Dermatology · 1998 · 86 citations
    2. The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71 Mammalian genome · 2010 · 75 citations
    3. Hair Follicular Expression and Function of Group X Secreted Phospholipase A2 in Mouse Skin Journal of Biological Chemistry · 2011 · 35 citations
    4. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002 · 26 citations
    5. Riboflavin-responsive glutaryl CoA dehydrogenase deficiency Molecular Genetics and Metabolism · 2005 · 25 citations
    6. Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color Journal of the American Academy of Dermatology · 2005 · 25 citations
    7. Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz<sup>ica</sup>) mice points to <i>fuzzy</i> as a key element of hair cycle control Experimental dermatology · 2005 · 20 citations
    8. Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5 Proceedings of the National Academy of Sciences of the United States of America · 2017 · 18 citations
    9. Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes Journal of child neurology · 2012 · 15 citations
    10. Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease Skin appendage disorders · 2018 · 2 citations
    11. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy 2022 · 1 citations
    12. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    13. Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report American Journal of Case Reports · 2025
    14. 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets Journal of the Endocrine Society · 2024
    15. Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review Biomedicines · 2024
    16. A missense mutation in Lama3 causes androgen alopecia Scientific Reports · 2023
    17. Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations Cells · 2023
    18. Independent DSG4 frameshift variants in cats with hair shaft dystrophy Molecular genetics and genomics · 2021
    19. Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors Dermatologic Therapy · 2022
    20. ‘Hard’ and ‘soft’ principles defining the structure, function and regulation of keratin intermediate filaments Current Opinion in Cell Biology · 2002 · 686 citations
    21. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    22. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    23. Steatocystoma Multiplex Indian Dermatology Online Journal · 2023 · 1 citations
    24. Hypotrichosis in a child with olmsted syndrome Indian Dermatology Online Journal · 2018
    25. Tricorrexis nudosa localizada por aplicación compulsiva de minoxidil Actas Dermo-Sifiliográficas · 2002 · 3 citations
    26. Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report Frontiers in genetics · 2022
    27. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
    28. Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes Endocrinology · 2005 · 78 citations
    29. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    30. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations