Katalóg evidencie publikačnej činnosti PU

ID záznamu:	PU.Prešov.2011091314292657
Kategória:	ADC
Autor:	Frojmark Anne-Sophie (9%)
Autor:	Schuster Jens (9%)
Autor:	Sobol Maria (9%)
Autor:	Entesarian Miriam (9%)
Autor:	Kilander Michaela B.C. (9%)
Autor:	Dojčáková Dana (10%)
Autor:	Nawaz Sadia (9%)
Autor:	Baig Shahid M. (9%)
Autor:	Schulte Gunnar (9%)
Autor:	Klar Joakim (9%)
Autor:	Dahl Niklas (9%)
Názov:	Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia [print]
Zdroj:	The American Journal of Human Genetics [print]
Lokácia:	Roč. 88, č. 6. - Cambridge : Cell Press, (2011), s. 852-860
ISSN:	0002-9297
Ohlas:	[1] 2011. DEREURE, O. Des genes et des ongles. In Annales de dermatologie et de venereologie, ISSN 0151-9638. 2011, vol. 138, no. 11, s. 788-789.
Ohlas:	[1] 2012. NAZ, G., PASTERNACK, S.M., PERRIN, C. et al. FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. In British journal of dermatology, ISSN 0007-0963. 2012, vol. 166, no. 5, s. 1088-1094.
Ohlas:	[1] 2012. USONGO, M., FAROOKHI, R. β-catenin/Tcf-signaling appears to establish the murine ovarian surface epithelium (OSE) and remains active in selected postnatal OSE cells. In BMC developmental biology, ISSN 1471-213X. 2012, vol. 12, article no. 17.
Ohlas:	[1] 2012. GAO, B. Wnt Regulation of Planar Cell Polarity (PCP). In Current topiscs in developmental biology, ISSN 0070-2153. 2012, vol. 101, s. 263-295.
Ohlas:	[1] 2013. RAZA, S.I., MUHAMMAD, N., KHAN, S. et al. A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. In British journal of dermatology, ISSN 0007-0963. 2013, vol. 168, no, 2, s. 422-425.
Ohlas:	[1] 2013. DYER, J.A. New findings in genodermatoses. In Dermatologic clinics, ISSN 0733-8635. 2013, vol. 31, no. 2, s. 303-315.
Ohlas:	[1] 2013. THIERRY, G., PICHON, O., BRIAND, A. et al. Autosomal insertional translocation mimicking an X-linked mode of inheritance. In European journal of medical genetics, ISSN 1769-7212. 2013, vol. 56, no. 1, s. 46-49.
Ohlas:	[1] 2013. WILSON, N.J., HANSEN, C.D., AZKUR, D. et al. Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy-Expanding the differential diagnosis for pachyonychia congenita. In Journal of dermatological science, ISSN 0923-1811. 2013, vol. 70, no. 1, s. 58-60.
Ohlas:	[1] 2012. HADJ-RABIA, S., JUHLIN, L., BARAN, R. Hereditary and congenital nail disorders. In Diseases of the nails and their management. 4. ed. Chichester : John Wiley & Sons, 2012, 2012, s. 485-547. ISBN 978-047065735-5.
Ohlas:	[1] 2013. CAI, C.-Q., SHI, O.-Y., SHEN, Y.-M. et al. The relationship between frizzled 6 gene polymorphisms and neural tube defects in children of northern Han Chinese population. In Chinese journal of neurology, ISSN 1006-7876. 2013, vol. 46, no. 10, s. 697-701.
Ohlas:	[1] 2014. HIRANO, H., YONEZAWA, H., YUNOUE, S. et al. mmunoreactivity of Wnt5a, Fzd2, Fzd6, and Ryk in glioblastoma: evaluative methodology for DAB chromogenic immunostaining. In Brain tumor pathology, ISSN 1861-387X. 2014, vol. 31, no. 2, s. 85-93.
Ohlas:	[1] 2015. FINNO, C.J., STEVENS, C., YOUNG, A. et al. SERPINB11 frameshift variant associated with novel hoof specificphenotype in connemara ponies. In PLoS genetics, ISSN 1553-7390. 2015, vol. 11, no. 1.
Ohlas:	[1] 2014. RAYAN, G.M., UPTON, J. Congenital hand anomalies and associated syndromes. Berlin : Springer Verlag, 2014, s. 1-500. ISBN 978-364254610-5.
Ohlas:	[1] 2014. WILSON, N.J., O`TOOLE, E.A., MILSTONE, L.M. et al. The molecular genetic analysis of the expanding pachyonychia congenita case collection. In British journal of dermatology, ISSN 0007-0963. 2014, vol. 171, no. 2, s. 343-355.
Ohlas:	[1] 2015. BETZ, R.C. Nails - More than just an ectodermal appendage: The genetics behind isolated nail disorders. In British journal of dermatology, ISSN 0007-0963. 2015, vol. 173, no. 4, s. 886.
Ohlas:	[1] 2015. KHAN, S., BASIT, S., HABIB, R. Genetics of human isolated hereditary nail disorders. In British journal of dermatology, ISSN 0007-0963. 2015, vol. 173, no. 4, s. 922-929.
Ohlas:	[3] 2015. CVJETKOVIC, N., MAILI, L., WEYMOUTH, K.S. et al. Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family. In Molecular genetics & genomic medicine [online], ISSN 2324-9269. 2015 [cit. 2015-04-19], vol. 3, vol. 5, s. 448. Dostupný na internete <http://onlinelibrary.wiley.com/doi/10.1002/mgg3.155/epdf>
Ohlas:	[1] 2021. JI, Y., WANG, T.X., GAO, Q. et al. Normalization of non-canonical Wnt signalings does not compromise blood-brain barrier protection conferred by upregulating endothelial Wnt/beta-catenin signaling following ischemic stroke. In CNS Neuroscience and therapeutics, ISSN 1755-5930. 2021, roč. 27, č. 9, s. 1085-1096. SCOPUS;WOS:000656182700001.
Ohlas:	[1] 2021. SCHÖNEBERG, T., LIEBSCHER, I. Mutations in g protein - coupled receptors: mechanisms, pathophysiology and potential therapeutic approaches. In Pharmacological reviews, ISSN 0031-6997. 2021, roč. 73, č. 1, s. 89-119. SCOPUS;WOS:000620053400001.
Ohlas:	[1] 2021. MADDY, A.J., CHOWDHURY, A.R., THANIKACHALAM, S. The flaw of the claw: a brief look at our evolution from claws to nails. In Dermatology, ISSN 1018-8665. 2021, roč. 237, s. 148-150. SCOPUS;WOS:000609462100023.
Ohlas:	[1] 2020. ABUNA, R.P.F., OLIVEIRA, F.S., ADOLPHO, L.F. et al. Frizzled 6 disruption suppresses osteoblast differentiation induced by nanotopography through the canonical Wnt signaling pathway. In Journal of cellular physiology, ISSN 0021-9541. 2020, roč. 235, č. 11, s. 8293-8303. SCOPUS;WOS:000523194300001.
Ohlas:	[1] 2020. KHAN, S., KHAN, A.K., HAMID, M. et al. Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families. In Journal of the Pakistan medical association, ISSN 0030-9982. 2020, roč. 70, č. 1, s. 143-146. WOS:000507481600027.
Ohlas:	[1] 2019. LUO, J., SUN, P., SIWKO, S. et al. The role of GPCRs in bone diseases and dysfunctions. In Bone research, ISSN 2095-4700. 2019, roč. 7, č. 1, art. no. 19. SCOPUS;WOS:000474522300001.
Ohlas:	[1] 2019. MOUSAVI, A.G.CH.M., NAJIZADEH, A., HOSSEINI, A.S. et al. First report of a known pathogenic variant in the FZD6 gene, in an Iranian family with recessive nail dysplasia: a case report. In Iranian journal of public health, ISSN 2251-6085. 2019, roč. 48, č. 7, s. 1369-1374. SCOPUS;WOS:000483338000021.
Ohlas:	[1] 2019. SAYGL, C., ALANAY, Y., SEZERMAN, U. et al. A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia. In BMC Medical genetics, ISSN 1471-2350. 2019, roč. 20, č. 1, art. no. 15. SCOPUS;WOS:000455584300003.
Ohlas:	[1] 2019. CERCHIO, R., CHEN, S.Z. Role of GPCRs in cancer. In GPCRs : structure, function and drug discovery. London : Elsevier, 2019, s. 463-474. ISBN 978-0-12-816728-1. WOS:000515058200023.
Ohlas:	[1] 2019. BEGHINI, A., POSTORINO, G. FZD6 (Frizzled class receptor 6). In Atlas of genetics and cytogenetics in oncology and haematology, ISSN 1768-3262. 2019, roč. 23, č. 5, s. 112-119. SCOPUS.
Ohlas:	[1] 2018. DONG, B., VOLD, S., OLVERA-JARAMILLO, C. et al. Functional redundancy of frizzled 3 and frizzled 6 in planar cell polarity control of mouse hair follicles. In Development, ISSN 0950-1991. 2018, roč. 145, č. 19, art. no. dev168468. SCOPUS;WOS:000447272300012.
Ohlas:	[1] 2018. FLECKMAN, P., MCCAFFREY, L. Structure and function of the Nail Unit. In Scher and Daniel's Nail : diagnosis, surgery, therapy. Cham : Springer International Publishing AG, 2018, s. 83-97. ISBN 978-331965649-6. SCOPUS.
Ohlas:	[1] 2018. SKRONSKA-WASEK, W., GOSENS, R., KÖNIGSHOFF, M. et al. WNT receptor signalling in lung physiology and pathology. In Pharmacology and therapeutics, ISSN 0163-7258. 2018, roč. 187, s. 150-166. SCOPUS;WOS:000436218500011.
Ohlas:	[1] 2018. MA, T., LI, B., WANG, R. et al. A mechanism for differential sorting of the planar cell polarity proteins Frizzled6 and Vangl2 at the trans-Golgi network. In Journal of biological chemistry, ISSN 0021-9258. 2018, roč. 293, č. 22, s. 8410-8427. SCOPUS;WOS:000434205700007.
Ohlas:	[1] 2017. MOHAMMADI-ASL, J., POUREZZA, M.R., MOHAMMADI, A. et al. A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred. In Journal of dermatological science, ISSN 0923-1811. 2017, roč. 88, č. 1, s. 134-138. SCOPUS;WOS:000414382000016.
Ohlas:	[1] 2017. KATOH, M., KATOH, M. Molecular genetics and targeted therapy of WNT-related human diseases. In International journal of molecular medicine, ISSN 1107-3756. 2017, roč. 40, č. 3, s. 587-606. SCOPUS;WOS:000407907200001.
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Ohlas:	[1] 2017. BERGQVIST, C., RAMIA, P., ABBAS, O. et al. Genetics of syndromic and non-syndromic hereditary nail disorders. In Clinical genetics, ISSN 0009-9163. 2017, roč. 91, č. 6, s. 813-823. SCOPUS;WOS:000402143900002.
Ohlas:	[1] 2017. PUTNOVÁ, I., DOSEDELOVÁ, H., BRYJA, V. et al. Angled growth of the dental lamina is accompanied by asymmetrical expression of the WNT pathway receptor frizzled 6. In Frontiers in psychology, ISSN 1664-042X. 2017, roč. 8, art. no. 29. SCOPUS;WOS:000392963400001.
Ohlas:	[1] 2016. KASPARIS, C., REID, D., WILSON, N.J. et al. Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature. In Clinical and experimental dermatology, ISSN 0307-6938. 2016, roč. 41, č. 8, s. 884-889. SCOPUS;WOS:000388506000008.
Ohlas:	[1] 2016. WANG, Y., CHANG, H., RATTNER, A. et al. Frizzled receptors in development and disease. In Current topics in development biology, ISSN 0070-2153. 2016, roč. 117, s. 113-139. SCOPUS;WOS:000376937700008.
Ohlas:	[1] 2016. JIANG, X., CONG, F. Novel regulation of Wnt signaling at the proximal membrane level. In Trends in biochemical sciences, ISSN 0968-0004. 2016, roč. 41, č. 9, s. 773-783. SCOPUS;WOS:000382416900008.
Ohlas:	[1] 2016. TAKEO, M., HALE, Ch.S., ITO, M. Epithelium-derived Wnt ligands are essential for maintenance of underlying digit bone. In Journal of investigative dermatology, ISSN 0022-202X. 2016, roč. 136, č. 7, s. 1355-1363. SCOPUS;WOS:000379016400012.
Ohlas:	[1] 2022. SUNDBERG, J.P., KING, L.E., KUIPER, R.V. Skin, hair, and nails. In Pathology of genetically engineered and other mutant mice. New Yersey (USA) : Wiley-Blackwell, 2022, s. 159-212. ISBN 978-111962460-8. SCOPUS.
Ohlas:	[1] 2024. NASRUN, N.E., TANIMURA, A., SHIMO, T. The roles of type 1 and type 2 taste receptors in bone remodeling: A literature review. In Oral science international, ISSN 1348-8643. 2024, roč. 21, č. 1, s. 15-27. WOS:000961357700001; SCOPUS.