Search
for

    Sort by

    Research 30 of 1000+

    1. Keratin gene mutations in disorders of human skin and its appendages Archives of Biochemistry and Biophysics · 2010 · 185 citations
    2. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    3. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    4. A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix 2011 · 3 citations
    5. [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. PubMed · 2008 · 2 citations
    6. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type Journal of Medical Genetics · 2006 · 60 citations
    7. Mutation analysis of type II hair keratin gene in a pedigree with monilethrix Chinese Journal of Dermatology · 2010
    8. 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82 2020
    9. A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix 生物医学研究杂志:英文版 · 2011 · 3 citations
    10. 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
    11. Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix Clinical and Experimental Dermatology · 2003 · 21 citations
    12. Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix 2019
    13. Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia 2009 · 42 citations
    14. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Human Genetics · 2010 · 40 citations
    15. Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix Chinese Medical Journal · 2013 · 4 citations
    16. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    17. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    18. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    19. Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene Journal of the European Academy of Dermatology and Venereology · 2017 · 6 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. Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits Animals · 2023 · 1 citations
    22. Exploiting the Keratin 17 Gene Promoter To Visualize Live Cells in Epithelial Appendages of Mice Molecular and Cellular Biology · 2005 · 58 citations
    23. A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11 Genomics · 1989 · 49 citations
    24. Detection of Type IIHair Keratin Gene in a Family with Monilethrix Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine · 2010
    25. Phospholipase C‐δ1 is an essential molecule downstream of <i>Foxnl,</i> the gene responsible for the nude mutation, in normal hair development The FASEB Journal · 2007 · 54 citations
    26. Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation European Journal of Dermatology · 2010 · 11 citations
    27. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    28. Structural Stability of Wild Type and Mutated α-Keratin Fragments:  Molecular Dynamics and Free Energy Calculations Biomacromolecules · 2004 · 40 citations
    29. Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice Journal of Biological Chemistry · 2002 · 15 citations
    30. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999 · 20 citations