Back
 JCDSA  Vol.3 No.3 A , September 2013
Mutations with Hair Shape Phenotypes Abnormalities—The Morphogenetic Waves and Related Diseases
Abstract: Hair morphology is one of the most conspicuous features of human variation. The hair follicle has attracted significant attention as a model for the investigation of diverse biological problems. Whereas, very little is known about the genes influencing the morphology and structure of the hair shaft. Curly hair is very common character of hair phenotypes of human, while most congenital curl occurs owing to genetic factors and some are closely related with genetic diseases. This review highlights current related genes reported affecting hair curliness and human diseases which are due to gene mutations.
Cite this paper: J. Wang, G. Wang and J. Zhang, "Mutations with Hair Shape Phenotypes Abnormalities—The Morphogenetic Waves and Related Diseases," Journal of Cosmetics, Dermatological Sciences and Applications, Vol. 3 No. 3, 2013, pp. 26-34. doi: 10.4236/jcdsa.2013.33A1004.
References

[1]   A. Abbasi, “Molecular Evolution of HR, A Gene That Regulates the Postnatal Cycle of the Hair Follicle,” Scientific Reports, Vol. 1, No. 32, 2011, pp.1-7. doi:10.1038/srep00032

[2]   J. Hwang, T. Mehrani, S. E. Millar and M. I. Morasso, “Dlx3 is a Crucial Regulator of Hair Follicle Differentiation and Cycling,” Development, Vol. 135, No. 18, 2008, pp. 3149-3159. doi:10.1242/dev.022202

[3]   E. Fuchs and S. Raghavan, “Getting under the Skin of Epidermal Morphogenesis,” Nature Reviews Genetics, Vol. 3, No. 3, 2002, pp. 199-209. doi:10.1038/nrg758

[4]   M. R. Schneider, R. Schmidt-Ullrich and R. Paus, “The Hair Follicle as A Dynamic Miniorgan,”Current Biology, Vol. 19, No. 3, 2009, pp. 132-142 doi:10.1016/j.cub.2008.12.005

[5]   M. A. Rogers, L. Langbein, S. Praetzel-Wunder, H. Winter and J. Schweizer, “Human Hair Keratin-Associated Proteins (KAPs),” International Review of Cytology, Vol. 251, 2006, pp. 209-263. doi:10.1016/S0074-7696(06)51006-X

[6]   L. Langbein and J. Schweizer, “Keratins of the Human Hair Follicle,” International Review of Cytology, Vol. 243, 2005, pp.1-78. doi:10.1016/S0074-7696(05)43001-6

[7]   Y. Shimomura and M. Ito, “Human Hair Keratin-Associated Proteins,” Journal of Investigative Dermatology Symposium Proceedings, Vol. 10, No. 3, 2005, pp. 230-233. doi:10.1111/j.1087-0024.2005.10112.x

[8]   E. Fuchs, “Skin Stem Cells, Rising to the Surface,” The Journal of Cell Biology, Vol. 180, No. 2, 2008, pp. 273-284. doi:10.1083/jcb.200708185

[9]   E. Fuchs and V. Horsley, “More Than One Way to Skin,” Genes Development, Vol. 22, No. 8, 2008, pp. 976-985. doi:10.1101/gad.1645908

[10]   Y. Kajiura, S. Watanabe, T. Itou, K. Nakamura, A. Iida, K. Inoue, N. Yagi, Y. Shinohara and Y. Amemiya, “Structural Analysis of Human Hair Single Fibres by Scanning Microbeam SAXS,” Journal of Structural Biology, Vol. 155, No. 3, 2006, pp. 438-444. doi:10.1016/j.jsb.2006.04.008

[11]   T. Schlake, “Determination of Hair Structure and Shape,” Seminars in Cell& Developmental Biology, Vol. 18, No. 2, 2007, pp. 267-273. doi:10.1016/j.semcdb.2007.01.005

[12]   S. Thibaut, O. Gaillard, P. Bouhanna, D. W. Cannell and B. A. Bernard, “Human Hair Shape Is Programmed From the Bulb,” British Journal of Dermatology, Vol. 152, No.4, 2005, pp. 632-638. doi:10.1111/j.1365-2133.2005.06521.x

[13]   Lindelof, B. Forslind, M. A. Hedblad and U. Kaveus, “Human Hair Form Morphology Revealed by Light and Scanning Electron Microscopy and Computer Aided Three-Dimensional Reconstruction,” Archives of Dermatology, Vol. 124, No. 9, 1988, pp. 1359-1363. doi:10.1001/archderm.1988.01670090015003

[14]   G. Loussouarn, A.L. Garcel, I. Lozano, C. Collaudin, C. Porter, S. Panhard, D. Saint-Léger and R. de La Mettrie, “Worldwide Diversity of Hair Curliness: A New Method of Assessment,” International Journal of Dermatology, Vol. 46, Suppl. 1, 2007, pp. 2-6. doi:10.1111/j.1365-4632.2007.03453.x

[15]   Y. Kikkawa, A. Oyama, R. Ishii, I. Miura, T. Amano, Y. Ishii, Y. Yoshikawa, H. Masuya, S. Wakana, T. Shiroishi, C. Taya and H. Yonekawa, “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, Vol. 165, No. 2, 2003, pp. 721-733.

[16]   F. Runkel, M. Klaften, K. Koch, V. B?hnert, H. Büssow, H. Fuchs, T. Franz and M. Hrabé de Angelis, “Morphologic and Molecular Characterization of Two Novel Krt71 (Krt2-6g) Mutations: Krt71rco12 and Krt71rco13,” Mammalian Genome, Vol. 17, No. 12, 2006, pp. 1172-1182. doi:10.1007/s00335-006-0084-9

[17]   T. Kuramoto, R. Hirano, M. Kuwamura and T. Serikawa, “Identification of the Rat Rex Mutation as A 7-Bp Deletion at Splicing Acceptor Site of the Krt71 Gene,” The Journal of Veterinary Medical Science, Vol. 72, No. 7, 2010, pp. 909-912. doi:10.1292/jvms.09-0554

[18]   T. Kuramoto, M. Yokoe, K. Yagasaki, T. Kawaguchi, K. Kumafuji and T. Serikawa, “Genetic Analyses of Fancy Rat-Derived Mutations,” Experimental Animals, Vol. 59, No. 2, 2010, pp. 147-155. doi:10.1538/expanim.59.147

[19]   E. Cadieu, M. W. Neff, P. Quignon, K. Walsh, K. Chase, H. G. Parker, B. M. VonHoldt, A.Rhue, A. Boyko, A. Byers, A. Wong, D. S. Mosher, A. G. Elkahloun, T. C. Spady, C. André, K. Gordon Lark, M. Cargill, C. D. Bustamante, R. K. Wayne and E. A. Ostrander, “Coat Variation in the Domestic Dog is Governed by Variants in Three Genes,” Science, Vol. 326, No. 5949, 2009, pp. 150-153. doi:10.1126/science.1177808

[20]   B. Gandolfi, C. A. Outerbridge, L. G. Beresford, J. A. Myers, M. Pimentel, H. Alhaddad, J. C. Grahn, R. A. Grahn and L. A. Lyons, “The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71,” Mammalian Genome, Vol. 21, No. 9-10, 2010, pp.509-515. doi:10.1007/s00335-010-9290-6

[21]   A. D. Markey, J. F. Taylor, R. D. Schnabel, S. D. McKay, M. C. McClure and J. E. Beever, “A Deletion Mutation in Krt71 is Associated with Congenital Hypotrichosis in Hereford Cattle,” Plant & Animal Genomes XVIII Conference, San Diego, 9-13 January 2010, p. 552.

[22]   K. Brandla, L.Sun, C. Neppl, O. M. Siggsa, S. M. Le Gallc, W. Tomisatoa, X.H. Li, X. Du, D. N. Maennel, C. P. Blobel and B. Beutler, “MyD88 Signaling in Nonhematopoietic Cells Protects Mice Against Induced Colitis by Regulating Specific EGF Receptor Ligands,” Pans, Vol. 107, 2010, pp. 19967-19972. doi:10.1073/pnas.1014669107

[23]   B. Chang, N. L. Hawes, R. E. Hurd, J. Wang, D. Howell, M. T. Davisson, T. H. Roderick, S. Nusinowitz and J. R. Heckenlively, “Mouse Models of Ocular Diseases,” Visual Neuroscience, Vol. 22, No. 5, 2005, pp. 587-593.

[24]   L. Hassemer, S. M. Le Gall, R. Liegel, M. McNally, B. Chang, C. J. Zeiss, R. D. Dubielzig, K. Horiuchi, T. Kimura, Y. Okada, C. P. Blobel and D. J. Sidjanin, “The Waved with Open Eyelids (Woe) Locus is A Hypomorphic Mouse Mutation in Adam17,” Genetics, Vol. 185, No. 1, 2010, pp. 245-255. doi:10.1534/genetics.109.113167

[25]   N. C. Luetteke, T. H. Qiu, S. E. Fenton, K. L. Troyer, R. F. Riedel, A. Chang and D. C. Lee, “Targeted Inactivation of the EGF and Amphiregulin Genes Reveals Distinct Roles for EGF Receptor Ligands in Mouse Mammary Gland Development,” Development, Vol. 126, No. 12, 1999, pp. 2739-2750.

[26]   K. R. Johnson, P. W. Lane, S. A. Cook, B. S. Harris, P. F. Ward-Bailey, R. T. Bronson, B. L. Lyons, L. D. Shultz and M. T. Davisson, “Curly Bare (Cub), A New Mouse Mutation on Chromosome 11 Causing Skin and Hair Abnormalities, and A Modifier Gene (Mcub) on Chromosome 5,” Genomics, Vol. 81, No. 1, 2003, pp. 6-14. doi:10.1242/dev.070920

[27]   M. Teta, Y. S. Choi, T. Okegbe, O. H. Tam, M. M. Chong, J. T. Seykora, A. Nagy, D. R. Littman, T. Andl and S. E. Millar, “Inducible Deletion of Epidermal Dicer and Drosha Reveals Multiple Functions for Mirnas in Postnatal Skin,” Development, Vol. 139, No. 8, 2012, pp. 1405-1406.

[28]   K. R. Fitch, K. A. McGowan, C. D. van Raamsdonk, H. Fuchs, D. Lee, A. Puech, Y. Hérault, D. W. Threadgill, M. Hrabé de Angelis and G. S. Barsh, “Genetics of Dark Skin in Mice,” Genes & Development, Vol. 17, No. 2, 2003, pp. 214-228. doi:10.1101/gad.1023703

[29]   T. C. Lee and D. W. Threadgill, “Generation and Validation of Mice Carrying a Conditional Allele of The Epidermal Growth Factor Receptor,” Genesis, Vol. 47, No. 2, 2009, pp. 85-92. doi:10.1002/dvg.20464

[30]   X. Du, K. Tabeta, K. Hoebe, H. Liu, N. Mann, S. Mudd, K. Crozat, S. Sovath, X. Gong and B. Beutler, “Velvet, A Dominant Egfr Mutation That Causes Wavy Hair and Defective Eyelid Development in Mice,” Genetics, Vol. 166, No. 1, 2004, pp. 331-340. doi:10.1534/genetics.166.1.331

[31]   A. Mclaren, “The Microscopic Appearance of Waved-2 Mouse Hairs,” Genetics Research, Vol. 17, No. 3, 1971, pp. 257-260. doi:10.1017/S0016672300012271

[32]   C. Thaung, K. West, B. J. Clark, L. McKie, J. E. Morgan, K. Arnold, P. M. Nolan, J. Peters, A. J. Hunter, S. D. Brown, I. J. Jackson and S. H. Cross, “Novel ENU-Induced Eye Mutations in The Mouse: Models for Human Eye Disease,” Human Molecular Genetics, Vol. 11, No. 7, 2002, pp.755-767. doi:10.1093/hmg/11.7.755

[33]   H. Yamamoto, M. L. Flannery, S. Kupriyanov, J. Pearce, S. R. McKercher, G. W. Henkel, R. A. Maki, Z. Werb and R. G. Oshima, “Defective Trophoblast Function in Mice with A Targeted Mutation of Ets2,” Genes & Development, Vol. 12, No. 9, 1998, pp. 1315-1326. doi:10.1101/gad.12.9.1315

[34]   G. Wei, R. Srinivasan, C. Z. Cantemir-Stone, S. M. Sharma, R. Santhanam, M. Weinstein, N. Muthusamy, A. K. Man, R. G. Oshima, G. Leone and M. C. Ostrowski, “Ets1 and Ets2 are Required for Endothelial Cell Survival During Embryonic Angiogenesis,” Blood, Vol. 114, No. 5, 2009, pp. 1123-1130. doi:10.1182/blood-2009-03-211391

[35]   A. Brancaccio, A. Minichiello, M. Grachtchouk, D. Antonini, H. Sheng, R. Parlato, N. Dathan, A. A. Dlugosz and C. Missero, “Requirement of the Forkhead Gene Foxe1, a Target of Sonic Hedgehog Signaling, in Hair Follicle Morphogenesis,” Human Molecular Genetics, Vol. 13, No. 21, 2004, pp. 2595-2606. doi:10.1093/hmg/ddh292

[36]   C. Poirier, A. Yoshiki, K. Fujiwara, J. L. Guénet and M. Kusakabe, “Hague (Hag): A New Mouse Hair Mutation with an Unstable Semidominant Allele,” Genetics, Vol. 162, No. 2, 2002, pp. 831-840.

[37]   S. Tanaka, I. Miura, A. Yoshiki, Y. Kato, H. Yokoyama, A. Shinogi, H. Masuya, S. Wakana, M. Tamura and T. Shiroishi, “Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament,” Genomics, Vol. 90, No. 6, 2007, pp. 703-711. doi:10.1016/j.ygeno.2007.07.013

[38]   L. C. Dunn, “Caracul a Dominant Mutation,” The Journal of Heredity, Vol. 28, No. 10, 1937, pp. 334.

[39]   F. Runkel, M. Klaften, K. Koch, V. B?hnert, H. Büssow, H. Fuchs, T. Franz and M. H. de Angelis, “Morphologic and Molecular Characterization of Two Novel Krt71 (Krt2-6g) Mutations: Krt71rco12 and Krt71rco13,” Mammalian Genome, Vol. 17, No. 12, 2006, pp. 1172-1182. doi:10.1007/s00335-006-0084-9

[40]   A. Inoue, N. Arima, J. Ishiguro, G. D. Prestwich, H. Arai and J. Aoki, “LPA-Producing Enzyme PA-PLA1 α Regulates Hair Follicle Development by Modulating EGFR Signalling,” The EMBO Journal, Vol. 30, No. 20, 2011, pp. 4248-4260.

[41]   Y. H. Pan, M. H. Lin, X. L.Tian, H. T. Cheng, T. Gridley, J. Shen and R. Kopan, “Γ-Secretase Functions Through Notch Signaling to Maintain Skin Appendages But Is Not Required for Their Patterning or Initial Morphogenesis,” Developmental Cell, Vol. 7, No. 5, 2004, pp. 731-743. doi:10.1016/j.devcel.2004.09.014

[42]   J. Herron, C. Rao, S. Liu, L.Laprade, J. A. Richardson, E. Olivieri, C. Semsarian, S. E. Millar, L. Stubbs and D. R. Beier, “A Mutation in NFkB Interacting Protein 1 Results in Cardiomyopathy and Abnormal Skin Development in Wa3 Mice,” Human Molecular Genetics, Vol. 14, No. 5, 2005, pp. 667-677. doi:10.1093/hmg/ddi063

[43]   L. Mecklenburg, D. J. Tobin, M. V. Cirlan, C. Craciun and R. Paus, “Premature Termination of Hair Follicle Morphogenesis and Accelerated Hair Follicle Cycling in Iasi Congenital Atrichia (Fzica) Mice Points to Fuzzy as a Key Element of Hair Cycle Control,” Experimental Dermatology, Vol. 14, No. 8, 2005, pp. 561-570. doi:10.1111/j.0906-6705.2005.00343.x

[44]   D. R. Campagna, A. O. Custodio, B. B. Antiochos, M. V. Cirlan and M. D. Fleming, “Mutations in the Serum/ Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (Fz) Hair Phenotype,” Journal of Investive Dermatology, Vol. 128, No. 3, 2008, pp. 730-732. doi:10.1038/sj.jid.5701089

[45]   J. A. McCormick, Y. X. Feng, K. Dawson, M. J. Behne, B. Yu, J. Wang, A. W. Wyatt, G. Henke, F. Grahammer, T. M. Mauro, F. Lang and D. Pearce, “Targeted Disruption of the Protein Kinase SGK3/CISK Impairs Postnatal Hair Follicle Development,” Molecular Biology of the Cell, Vol. 15, No. 9, 2004, pp. 4278-4288. doi:10.1091/mbc.E04-01-0027

[46]   S. Gurumurthy, A. F. Hezel, E. Sahin, J. H. Berger, M. W. Bosenberg and N. Bardeesy, “LKB1 Deficiency Sensitizes Mice to Carcinogen-Induced Tumorigenesis,” Cancer Research, Vol. 68, No. 1, 2008, pp. 55-63. doi:10.1158/0008-5472.CAN-07-3225

[47]   R. Murillas, F. Larcher, C. J. Conti, M. Santos, A. Ullrich and J. L. Jorcano, “Expression of a Dominant Negative Mutant of Epidermal Growth Factor Receptor in the Epidermis of Transgenic Mice Elicits Striking Alterations in Hair Follicle Development and Skin Structure,” The EMBO Journal, Vol. 14, No. 21, 1995, pp. 5216-5223.

[48]   H. Uyttendaele, A. A. Panteleyev, D. de Berker, D. T. Tobin and A. M. Christiano, “Activation of Notch1 in the Hair Follicle Leads to Cell-Fate Switch and Mohawk Alopecia,” Differentiation, Vol. 72, No. 8, 2004, pp. 396-409. doi:10.1111/j.1432-0436.2004.07208006.x

[49]   M. H. Lin, C. Leimeister, M. Gessler and R. Kopan, “Activation of the Notch Pathway in the Hair Cortex Leads to Aberrant Differentiation of the Adjacent HairShaft Layers,” Development, Vol. 127, No. 11, 2000, pp. 2421-2432.

[50]   B. Mann, K. J. Fowler, A. Gabriel, E. C. Nice, R. L. Williams and A. R. Dunn, “Mice with a Null Mutation of the TGF Alpha Gene Have Abnormal Skin Architecture, Wavy Hair, and Curly Whiskers and Often Develop Corneal Inflammation, ” Cell, Vol. 73, No. 2, 1993, pp. 249-261. doi:10.1016/0092-8674(93)90227-H

[51]   N. C. Luetteke, T. H. Qiu, R. L. Peiffer, P. Oliver, O. Smithies and D. C. Lee, “TGF Alpha Deficiency Results in Hair Follicle and Eye Abnormalities in Targeted and Waved-1 Mice,” Cell, Vol. 73, No. 2, 1993, pp. 263-278. doi:10.1016/0092-8674(93)90228-I

[52]   M. J. Trigg, “Hair Growth in Mouse Mutants Affecting Coat Texture,” Journal of Zoology, Vol. 168, No. 2, 1972, pp. 165-198.

[53]   S. John, L. Thiebach, C. Frie, S. Mokkapati, M. Bechtel, R. Nischt, S. Rosser-Davies, M. Paulsson and N. Smyth, “Epidermal Transglutaminase (Tgase 3) Is Required for Proper Hair Development, but Not the Formation of the Epidermal Barrier,” PLoS ONE, Vol. 7, No. 4, 2012, Article ID: e34252. doi:10.1371/journal.pone.0034252

[54]   X. Cheng, J. Jin, L. Hu, D. Shen, X. P. Dong, M. A. Samie, J. Knoff, B. Eisinger, M. L. Liu, S. M. Huang, M. J. Caterina, P. Dempsey, L. E. Michael, A. A. Dlugosz, N. C. Andrews, D. E. Clapham and H. Xu, “TRP Channel Regulates EGFR Signaling in Hair Morphogenesis and Skin Barrier Formation,” Cell, Vol. 141, No. 2, 2010, pp. 331-343. doi:10.1016/j.cell.2010.03.013

[55]   P. Baden, M. F.Champliaud, J. P. Sundberg and A. Viel, “Targeted Deletion of the Sciellin Gene Resulted in Normal Development and Maturation,” Genesis, Vol. 42, No. 4, 2005, pp. 219-228. doi:10.1002/gene.20133

[56]   H. Winter, D. Schissel, D. A. Parry, T. A. Smith, M. Liovic, E. Birgitte Lane, L. Edler, L. Langbein, L. F. JaveSuarez, M. A. Rogers, J. Wilde, G. Peters and J. Schweizer, “An Unusual Ala12Thr Polymorphism in the 1A αHelical 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, Vol. 122, No. 3, 2004, pp. 652-657. doi:10.1111/j.0022-202X.2004.22309.x

[57]   J. Schweizer, L. Langbein, M. A. Rogers and H. Winter, “Hair Follicle-Specific Keratins and Their Diseases,” Experimental Cell Research, Vol. 313, No. 10, 2007, pp. 2010-2020. doi:10.1016/j.yexcr.2007.02.032

[58]   M. Ribera, N. Fernández-Chico and M. Casals, “Pseudofolliculitis Barbae,” Actas Dermosifiliogáficas, Vol. 101, No. 9, 2010, pp. 749-757. doi:10.1016/j.ad.2010.03.011

[59]   C. Chamcheu, I. A. Siddiqui, D. N. Syed, V. M. Adhami, M. Liovic and H. Mukhtar, “Keratin Gene Mutations in Disorders of Human Skin and Its Appendages,” Archives of Biochemistry and Biophysics, Vol. 508, No. 2, 2011, pp. 123-137. doi:10.1016/j.abb.2010.12.019

[60]   J. Lichtenstein, R. Warson, R. Jorgenson, J. P. Dorst and V. A. McKusick, “The Tricho-Dento-Osseous (TDO) Syndrome,” The American Journal of Human Genetics, Vol. 24, No. 5, 1972, pp. 569-582.

[61]   T. Nguyen, C. Phillips, S. Frazier-Bower and T. Wright, “Craniofacial Variations in the Tricho-Dento-Osseous Syndrome,” Clinical Genetics, Vol. 83, No. 4, 2013, pp. 375-379. doi:10.1111/j.1399-0004.2012.01907.x

[62]   E. Mayer, C. Baal, M. Litschauer-Poursadrollah, W. Hemmer and R. Jarisch, “Uncombable Hair and Atopic Dermatitis in a Case of Trichodento-Osseous Syndrome,” Journal der Deutschen Dermatologischen Gesellschaft, Vol. 8, No. 2, 2010, pp. 102-104. doi:10.1111/j.1610-0387.2009.07159_supp.x

[63]   R. P. Elzay and D. H. Chamberlain, “Differential Diagnosis of Enlarged Dental Pulp Chambers: A Case Report of Amelogenesis Imperfecta with Taurodontism,” ASDC Journal of Dentistry Children, Vol. 53, No. 5, 1986, pp. 388-390.

[64]   B. Al-Batayneh, “Tricho-Dento-Osseous Syndrome: Diagnosis and Dental Management,” International Journal of Dentistry, Vol. 2012, No. 2012, 2012, Article ID: 514692. doi:10.1155/2012/514692

[65]   S. D. Shapiro, F. L. Quattromani, R. J. Jorgenson and R. S. Young, “Tricho-Dento-Osseous Syndrome: Heterogeneity or Clinical Variability,” American Journal of Medical Genetics, Vol. 16, No. 2, 1983, pp. 225-236. doi:10.1002/ajmg.1320160212

[66]   Duverger, D. Lee, M. Q. Hassan, S. X. Chen, F. Jaisser, J. B. Lian and M. I. Morasso, “Molecular Consequences of A Frameshifted DLX3 Mutant Leading to Tricho-DentoOsseous Syndrome,” The Journal of Biological Chemistry, Vol. 283, No. 29, 2008, pp. 20198-20208. doi:10.1074/jbc.M709562200

[67]   M. Melnick, E. D. Shields and A. H. El-Kafrawy, “Trichodento-Osseous Syndrome: A Scanning Electron Microscopic Analysis,” Clinical Genetics, Vol. 12, No. 1, 1977, pp. 17-27. doi:10.1111/j.1399-0004.1977.tb00896.x

[68]   W. K. Seow, “Trichodentoosseous (TDO) Syndrome: Case Report and Literature Review,” Pediatric Dentistry, Vol. 15, No. 5, 1993, pp. 355-361.

[69]   W. A. Paznekas, B. Karczeski, S. Vermeer, R. B. Lowry, M. Delatycki, F. Laurence, P. A. Koivisto, L. van Maldergem, S. A. Boyadjiev, J. N. Bodurtha and E. W. Jabs, “GJA1 Mutations, Variants, and Connexin 43 Dysfunction as It Relates to the Oculodentodigital Dysplasia Phenotype,” Human Mutation, Vol. 30, No. 5, 2009, pp. 724-733. doi:10.1002/humu.20958

[70]   W. A. Paznekas, S. A. Boyadjiev, R. E. Shapiro, O. Daniels, B. Wollnik, C. E. Keegan, J. W. Innis, M. B. Dinulos, C. Christian, M. C. Hannibal and E. W. Jabs, “Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia,” The American Journal of Human Genetics, Vol. 72, No. 2, 2003, pp. 408-418. doi:10.1086/346090

[71]   K. W. Kjaer, L. Hansen, H. Eiberg, P. Leicht, J. M. Opitz and N. Tommerup, “Novel Connexin 43 (GJA1) Mutation Causes Oculo-Dento-Digital Dysplasia with Curly Hair,” American Journal of Medical Genetics, Vol. 127A, No. 2, 2004, pp. 152-157. doi:10.1002/ajmg.a.20614

[72]   S. C. Kelly, P. Ratajczak, M. Keller, S. M. Purcell, T. Griffin and G. Richard, “A Novel GJA 1 Mutation in Oculodento-Digital Dysplasia with Curly Hair and Hyperkeratosis,” European Journal of Dermatology, Vol. 16, No. 3, 2006, pp. 241-245.

[73]   P. E. Hutchinson, R. J. Cairns and R. S. Wells, “Woolly Hair: Clinical and General Aspects,” Transactions of the St. Johns Hospital Dermatological Society, Vol. 60, No. 2, 1974, pp. 160-177.

[74]   G. McKoy, N. Protonotarios, A. Crosby, A. Tsatsopoulou, A. Anastasakis, A. Coonar, M. Norman, C. Baboonian, S. Jeffery and W. J. McKenna, “Identification of a Deletion in Plakoglobin in Arrhythmogenic Right Ventricular Cardiomyopathy with Palmoplantar Keratoderma and Woolly Hair (Naxos Disease),” The Lancet, Vol. 355, No. 9221, 2000, pp. 2119-2124. doi:10.1016/S0140-6736(00)02379-5

[75]   E. E. Norgett, S. J. Hatsell, L. Carvajal-Huerta, J. C. Cabezas, J. Common, P. E. Purkis, N. Whittock, I. M. Leigh, H. P. Stevens and D. P. Kelsell, “Recessive Mutation in Desmoplakin Disrupts Desmoplakin—Intermediate Filament Interactions and Causes Dilated Cardiomyopathy, Woolly Hair and Keratoderma,” Human Molecular Genetics, Vol. 9, No. 18, 2000, pp. 2761-2766. doi:10.1093/hmg/9.18.2761

[76]   A. J. Chien, M. C. Valentine and V. P. Sybert, “Hereditary Woolly Hair and Keratosis Pilaris,” Journal of the American Academy of Dermatology, Vol. 54, No. 2, 2006, pp. S35-S39. doi:10.1016/j.jaad.2005.01.092

[77]   Y. Shimomura, M. Wajid, L. Petukhova, L. Shapiro and A. M. Christiano, “Mutations in the Lipase H Gene Underlie Autosomal Recessive Woolly Hair/Hypotrichosis,” Journal of Investigative Dermatology, Vol. 129, No.2009, pp. 622-628. doi:10.1038/jid.2008.290%%

 
 
Top