Search
for

    Sort by

    Research 421–450 of 1000+

    1. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    2. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    3. Pleiotropic Role of Notch Signaling in Human Skin Diseases International Journal of Molecular Sciences · 2020 · 29 citations
    4. Symptomatic zinc deficiency in a full-term breast-fed infant Dermatology Online Journal · 2010 · 20 citations
    5. Skin Development and Disease: A Molecular Perspective Current Issues in Molecular Biology · 2024 · 15 citations
    6. The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle 2015 · 15 citations
    7. Hair shaft disorders in children – An update Indian Dermatology Online Journal · 2023 · 12 citations
    8. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    9. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations
    10. Treatment of Satoyoshi syndrome: a systematic review Orphanet journal of rare diseases · 2019 · 8 citations
    11. <i>De novo</i> filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks FEBS open bio · 2021 · 2 citations
    12. RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS 2017 · 2 citations
    13. Evaluation of Clinical and Oral Findings in Patients with Epidermolysis bullosa Medicina · 2023 · 1 citations
    14. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    15. Zebrafish Model of Hereditary Pigmentary Disorders International Journal of Dermatology and Venereology · 2019 · 1 citations
    16. Endocrinology Clinical Chemistry and Laboratory Medicine · 2023
    17. 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
    18. Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics · 2007 · 143 citations
    19. Ptosis in childhood Medicine · 2018 · 15 citations
    20. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    21. Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease PloS one · 2019 · 5 citations
    22. Unraveling the ECM-Immune Cell Crosstalk in Skin Diseases Frontiers in Cell and Developmental Biology · 2019 · 97 citations
    23. Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease Journal of Cell Science · 2008 · 85 citations
    24. Transcriptome Profile at Different Physiological Stages Reveals Potential Mode for Curly Fleece in Chinese Tan Sheep PloS one · 2013 · 55 citations
    25. 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
    26. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities 2016 · 36 citations
    27. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    28. Madarosis: A marker of many Maladies International Journal of Trichology · 2012 · 36 citations
    29. The Hairless Phenotype of the Hirosaki Hairless Rat Is Due to the Deletion of an 80-kb Genomic DNA Containing Five Basic Keratin Genes Journal of Biological Chemistry · 2008 · 35 citations
    30. Topobiology of Human Pigmentation: P-Cadherin Selectively Stimulates Hair Follicle Melanogenesis 2013 · 29 citations