MUTATION IN PHOSPHOLIPASE C, δ1 (PLCD1) GENE UNDERLIES HEREDITARY LEUKONYCHIA IN A PASHTUN FAMILY AND REVIEW OF THE LITERATURE
Khan AK, Khan SA, Muhammad Na, Muhammad No, Ahmad J, Nawaz H, Nasir A, Farman S, Khan S
*Corresponding Author: Saadullah Khan, Ph.D., Department of Biotechnology & Genetic Engineering, Kohat University of Science & Technology, Banu Road, Kohat 26000, Khyber Pakhtunkhwa, Pakistan. Tel: +92-333-506-8108. Fax: +92-0922- 554-556. E-mail: saadkhanwazir@gmail.com; saad@kust.edu.pk
page: 69

REFERENCES

1. Dawber R, de Berker D, Baran R. Diseases of the Nails and Their Management, 4th ed. Oxford, Oxfordshire, UK: Blackwell Science Ltd., 2004. 2. Sprecher E. Genetic hair and nail disorders. Clin Dermatol. 2005; 23(1): 47-55. 3. Baran R, Dawber RPR, de Berker DAR, Haneke E, Tosti A. Diseases of the Nails and their Management, 3rd ed. Oxford, Oxfordshire, UK: Blackwell Science Ltd., 2001. 4. Kiuru M, Kurban M, Itoh M, Petukhova L, Shimomura Y, Wajid M, et al. Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. Am J Hum Genet. 2011; 88(6): 839-844. 5. Mir H, Khan S, Arif MS, Ali G, Wali A, Ansar M, et al. Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary leukonychia. Eur J Dermatol. 2012; 22(6): 736-739. 6. Farooq M, Kurban M, Abbas O, Obeidat O, Fujikawa H, Kibbi AG, et al. A novel mutation in the PLCD1 gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia. Br J Dermatol. 2012; 167(4): 946-949. 7. Molecular Operating Environment (MOE), 2013.08; Chemical Computing Group Inc., Montreal, QC, Canada, 2016. 8. Rice RH, Xia Y, Alvarado RJ, Phinney BS. Proteomic analysis of human nail plate. J Proteome Res. 2010; 9(12): 6752-6758. 9. Nakamura Y, Ichinohe M, Hirata M, Matsuura H, Fujiwara T, Igarashi T, et al. Phospholipase C-delta1 is an essential molecule downstream of Foxn1, the gene respon-sible for the nude mutation, in normal hair development. FASEB J. 2008; 22(3): 841-849. 10. Auricchio L, Adriani M, Frank J, Busiello R, Christiano A, Pignata C. Nail dystrophy associated with a heterozygous mutation of the nude/SCID human FOXN1 (WHN) gene. Arch Dermatol. 2005; 141(5): 647-648.



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