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    Research 151–180 of 1000+

    1. Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles Journal of Investigative Dermatology · 2002 · 53 citations
    2. MOUSE MODELS FOR THE STUDY OF HUMAN HAIR LOSS Dermatologic Clinics · 1996 · 36 citations
    3. Hair follicles and their role in skin health Expert Review of Dermatology · 2006 · 16 citations
    4. Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 2017 · 1 citations
    5. Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice JID Innovations · 2026
    6. Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability” Methods in pharmacology and toxicology · 2012
    7. Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 2017
    8. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    9. A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses Bone · 2014 · 12 citations
    10. Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg–like Cells, and Common EGFR Somatic Mutations The American Journal of Surgical Pathology · 2021 · 4 citations
    11. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    12. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    13. Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands Acta dermato-venereologica · 2017 · 4 citations
    14. 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2024
    15. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis 2020 · 8 citations
    16. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    17. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    18. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    19. A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform Journal of Biological Chemistry · 1997 · 28 citations
    20. Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer Cancers · 2021 · 20 citations
    21. Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families Frontiers in Medicine · 2024 · 3 citations
    22. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
    23. Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa Journal of Clinical Investigation · 2017 · 87 citations
    24. Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma British Journal of Dermatology · 2013 · 2 citations
    25. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    26. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018 · 14 citations
    27. Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene Yonsei Medical Journal · 2018 · 13 citations
    28. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy 2022 · 1 citations
    29. Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages Human Molecular Genetics · 2018 · 25 citations
    30. Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles International Journal of Molecular Sciences · 2020 · 10 citations