Current Genetics in Hair Diseases

Research cited in this study 43

1. A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
2. Trps1 Activates a Network of Secreted Wnt Inhibitors and Transcription Factors Crucial to Vibrissa Follicle Morphogenesis Development · 2011
3. Congenital Hair Loss Disorders: Rare, But Not Too Rare The Journal of Dermatology · 2011
4. LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling The EMBO Journal · 2011
5. Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families Human Genetics · 2010
6. The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71 Mammalian genome · 2010
7. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010
8. APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex Nature · 2010
9. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010
10. Identification of the Rat Rex Mutation as a 7-Bp Deletion at Splicing Acceptor Site of the Krt71 Gene Journal of Veterinary Medical Science · 2010
11. Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2009
12. The Keratins of the Human Beard Hair Medulla: The Riddle in the Middle ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2009
13. Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, P2Y5/LPA6 Journal of Biological Chemistry · 2009
14. Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis Nature Genetics · 2009
15. The Human Keratins: Biology And Pathology Histochemistry and Cell Biology · 2008
16. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
17. Dynamic Expression of the Zinc-Finger Transcription Factor Trps1 During Hair Follicle Morphogenesis and Cycling Gene Expression Patterns · 2007
18. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
19. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006
20. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006
21. A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type Journal of Medical Genetics · 2006
22. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2006
23. Human Hair Keratin-Associated Proteins International review of cytology · 2006
24. Human Hair Keratin-Associated Proteins ˜The œjournal of investigative dermatology. Symposium proceedings/˜The œJournal of investigative dermatology symposium proceedings · 2005
25. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
26. Expression of Hair Keratins in the Adult Nail Unit: An Immunohistochemical Analysis of Onychogenesis in the Proximal Nail Fold, Matrix, and Nail Bed British Journal of Dermatology · 2004
27. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003
28. A Small Deletion Hotspot in the Type II Keratin Gene mK6irs1/Krt2-6g on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation Genetics · 2003
29. Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency Journal of Investigative Dermatology · 2003
30. 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
31. K6irs1, K6irs2, K6irs3, And K6irs4 Represent The Inner-Root-Sheath-Specific Type II Epithelial Keratins Of The Human Hair Follicle Journal of Investigative Dermatology · 2003
32. Hard and Soft Principles Defining the Structure, Function, and Regulation of Keratin Intermediate Filaments Current Opinion in Cell Biology · 2002
33. Molecular Mechanisms Regulating Hair Follicle Development ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2002
34. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001
35. Morphogenesis and Renewal of Hair Follicles from Adult Multipotent Stem Cells Cell · 2001
36. Forkhead/Winged-Helix Transcription Factor Whn Regulates Hair Keratin Gene Expression: Molecular Analysis of the Nude Skin Phenotype Developmental Dynamics · 2000
37. Characterization of a 300 Kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain Journal of Investigative Dermatology · 2000
38. The Role of the Hairless (Hr) Gene in the Regulation of Hair Follicle Catagen Transformation American Journal Of Pathology · 1999
39. The Catalog of Human Hair Keratins Journal of biological chemistry/˜The œJournal of biological chemistry · 1999
40. Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes Journal of biological chemistry/˜The œJournal of biological chemistry · 1998
41. Alopecia Universalis Associated With a Mutation in the Human Hairless Gene Science · 1998
42. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
43. Monilethrix: An Ultrastructural Study Journal of Cutaneous Pathology · 1984