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    Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm

    December 2011 in “ Journal of Investigative Dermatology ”
    Regina C. Betz, Rita Cabral, Angela M. Christiano, Eli Sprecher
    Studysummary This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 28

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    2. A New Locus for Hereditary Hypotrichosis Simplex Maps to Chromosome 13q12.12-12.3 in a Chinese Family Journal of Cutaneous Pathology · 2010
    3. APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex Nature · 2010
    4. Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis Nature Genetics · 2009
    5. A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice Human molecular genetics online/Human molecular genetics · 2008
    6. The Genetics of Hair Shaft Disorders Journal of The American Academy of Dermatology · 2008
    7. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    8. Hair Follicle-Specific Keratins And Their Diseases Experimental cell research · 2007
    9. Scratching the Surface of Skin Development Nature · 2007
    10. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    11. Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation Cell Cycle · 2006
    12. More Than One Gene Involved in Monilethrix: Intracellular but Also Extracellular Players Journal of Investigative Dermatology · 2006
    13. A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type Journal of Medical Genetics · 2006
    14. Hairless Triggers Reactivation of Hair Growth by Promoting Wnt Signaling Proceedings of the National Academy of Sciences of the United States of America · 2005
    15. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
    16. Genetic Hair and Nail Disorders Clinics in dermatology · 2005
    17. Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis Molecular Endocrinology · 2004
    18. Histopathology of Hypotrichosis with Juvenile Macular Dystrophy The American Journal of Dermatopathology · 2004
    19. An Unusual Ala12Thr Polymorphism in the 1A Alpha-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae Journal of Investigative Dermatology · 2004
    20. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003
    21. Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling Journal of Biological Chemistry · 2003
    22. Phosphatidic Acid Has Potential to Promote Hair Growth In Vitro and In Vivo, and Activates Mitogen-Activated Protein Kinase/Extracellular Signal-Regulated Kinase Kinase in Hair Epithelial Cells ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2003
    23. Atrichia With Papular Lesions Resulting From Mutations In The Rhesus Macaque (Macaca Mulatta) Hairless Gene Laboratory Animals · 2002
    24. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000
    25. The Hairless Gene of the Mouse: Relationship of Phenotypic Effects with Expression Profile and Genotype Developmental Dynamics · 1999
    26. Alopecia Universalis Associated With a Mutation in the Human Hairless Gene Science · 1998
    27. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    28. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997