Search
for

    Sort by

    Research 211–240 of 1000+

    1. Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels Human Reproduction · 2018 · 3 citations
    2. A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix 2011 · 3 citations
    3. An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review Heliyon · 2023 · 1 citations
    4. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    5. Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice JID Innovations · 2026
    6. IMPACT OF BIOMARKER IN PREDICATIVE TO RESPONSE ADJUVANT CHEMOTHERAPY AND OVERALL SURVIVAL IN FEMALES INFECTED WITH BREAST CANCER: A REVIEW ARTICLES MINAR International Journal of Applied Sciences and Technology · 2025
    7. A missense mutation in Lama3 causes androgen alopecia Scientific Reports · 2023
    8. The Molecular Pathogenesis of Trichilemmal Carcinoma Research Square (Research Square) · 2020
    9. The Molecular Pathogenesis of Trichilemmal Carcinoma Research Square (Research Square) · 2020
    10. Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review Pediatric Dermatology · 2019
    11. Signaling Involved in Hair Follicle Morphogenesis and Development International Journal of Molecular Sciences · 2014 · 223 citations
    12. Cryptic Patterning of Avian Skin Confers a Developmental Facility for Loss of Neck Feathering PLoS Biology · 2011 · 103 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. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    15. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    16. Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene 2015 · 22 citations
    17. Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development Biology Direct · 2016 · 19 citations
    18. Effect of Sun exposure-induced ferroptosis mechanisms on pathology and potential biological processes of primary melanoma by microarray data analysis Frontiers in Genetics · 2022 · 12 citations
    19. Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding Journal of Clinical Investigation · 2023 · 4 citations
    20. Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family Journal of clinical laboratory analysis · 2021 · 4 citations
    21. Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development Proceedings of the National Academy of Sciences of the United States of America · 2003 · 93 citations
    22. 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
    23. A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA The Journal of Clinical Endocrinology & Metabolism · 2022 · 4 citations
    24. 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
    25. Chapter 14 Principles of drug metabolism Principles of Medical Biology · 1997 · 2 citations
    26. 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
    27. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    28. The dermatological consequences of obesity International Journal of Dermatology · 2013 · 20 citations
    29. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy The Application of Clinical Genetics · 2022 · 15 citations
    30. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations