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    Research 571–600 of 1000+

    1. Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality Journal of Investigative Dermatology · 2025
    2. Two parietal cephaloceles in a female neonate Pediatrics & neonatology · 2023
    3. Mesenchymal cell specific deletion of Tsc2 regulates hair follicle development and patterning Journal of dermatological science · 2016
    4. Junctional Epidermolysis Bullosa, Generalized Intermediate Type 2015
    5. Former finasteride users with sexual side effects at increased risk for depressive symptoms, suicidal thoughts 2012
    6. SEXUAL DIMORPHISM IN MAMMALS 1974 · 138 citations
    7. Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis Proceedings of the National Academy of Sciences of the United States of America · 2013 · 44 citations
    8. Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening Journal of the American Academy of Dermatology · 2012 · 3 citations
    9. Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome Steroids · 2019 · 1 citations
    10. UTX (KDM6A) promotes differentiation noncatalytically in somatic self-renewing epithelia Proceedings of the National Academy of Sciences · 2025
    11. 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR Journal of Investigative Dermatology · 2016
    12. The epidermis: rising to the surface Current opinion in genetics & development · 1994 · 238 citations
    13. Lipoatrophy and severe metabolic disturbance in mice with fat-specific deletion of PPARγ Proceedings of the National Academy of Sciences of the United States of America · 2013 · 218 citations
    14. The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation American Journal Of Pathology · 1999 · 166 citations
    15. LPA-producing enzyme PA-PLA<sub>1</sub>α regulates hair follicle development by modulating EGFR signalling The EMBO Journal · 2011 · 151 citations
    16. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations
    17. Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway ˜The œAmerican journal of pathology · 2009 · 137 citations
    18. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    19. Combined C3b and Factor B Autoantibodies and MPGN Type II New England Journal of Medicine · 2011 · 97 citations
    20. Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype Developmental Dynamics · 2000 · 75 citations
    21. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full. Journal of Investigative Dermatology · 2002 · 69 citations
    22. Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease Science · 2023 · 60 citations
    23. Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis American journal of human genetics · 2019 · 53 citations
    24. Generalized atrophic benign epidermolysis bullosa. PubMed · 1997 · 51 citations
    25. Differential sensitivity of epidermal cell subpopulations to β-catenin-induced ectopic hair follicle formation Developmental Biology · 2010 · 43 citations
    26. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Human Genetics · 2010 · 40 citations
    27. Human Follicular Papilla Cells Carry Out Nonadipose Tissue Production of Leptin Journal of Investigative Dermatology · 2001 · 37 citations
    28. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    29. Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions Journal of Investigative Dermatology · 2003 · 23 citations
    30. Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro American Journal Of Pathology · 2003 · 20 citations