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Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
American Journal of Human Genetics, 87 (2010), 2; 189-198. https://doi.org/10.1016/j.ajhg.2010.07.001
Malan, Valeri; Rajan, Diana; Thomas, Sophie; Shaw, Adam C.; Picard, Helene Louis; Layet, Valerie; Till, Marianne; van Haeringen, Arie; Mortier, Geert; Nampoothiri, Sheela; Pušeljić, Silvija

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Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Picard, H. L., Layet, V. ... Pušeljić, S. (2010). Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome. American Journal of Human Genetics, 87. (2), 189-198. doi: 10.1016/j.ajhg.2010.07.001

Malan, Valeri, et al. "Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome." American Journal of Human Genetics, vol. 87, br. 2, 2010, str. 189-198. https://doi.org/10.1016/j.ajhg.2010.07.001

Malan, Valeri, Diana Rajan, Sophie Thomas, Adam C. Shaw, Helene Louis Picard, Valerie Layet, Marianne Till, et al. "Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome." American Journal of Human Genetics 87, br. 2 (2010): 189-198. https://doi.org/10.1016/j.ajhg.2010.07.001

Malan, V., et al. (2010) 'Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome', American Journal of Human Genetics, 87(2), str. 189-198. doi: 10.1016/j.ajhg.2010.07.001

Malan V, Rajan D, Thomas S, Shaw AC, Picard HL, Layet V, i sur.. Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome. American Journal of Human Genetics [Internet]. 2010. [pristupljeno 08.12.2024.];87(2):189-198. doi: 10.1016/j.ajhg.2010.07.001

V. Malan, et al., "Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome", American Journal of Human Genetics, vol. 87, br. 2, str. 189-198, 2010. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:239:730296. [Citirano: 08.12.2024.]

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Naslov (engleski)Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
AutorValeri Malan
AutorDiana Rajan
AutorSophie Thomas
AutorAdam C. Shaw
AutorHelene Louis Picard
AutorValerie Layet
AutorMarianne Till
AutorArie van Haeringen
AutorGeert Mortier
AutorSheela Nampoothiri
AutorSilvija Pušeljić
MBZ: 263190
Autorova ustanova(Klinički bolnički centar Osijek)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Farmakologija
Sažetak (engleski)
By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, Nfix-deficient mice are unable to gain weight and die in the first 3 postnatal weeks, while they also present with a spinal deformation and decreased bone mineralization. These features prompted us to consider NFIX as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and unusual facies. Distinct frameshift and splice NFIX mutations that escaped nonsense-mediated mRNA decay (NMD) were identified in nine MSS subjects. NFIX belongs to the Nuclear factor one (NFI) family of transcription factors, but its specific function is presently unknown. We demonstrate that NFIX is normally expressed prenatally during human brain development and skeletogenesis. These findings demonstrate that allelic NFIX mutations trigger distinct phenotypes, depending specifically on their impact on NMD.
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaAmerican Journal of Human Genetics
Brojčani podacivol. 87, br. 2, str. 189-198
p-ISSN0002-9297
e-ISSN1537-6605
DOIhttps://doi.org/10.1016/j.ajhg.2010.07.001
URN:NBNurn:nbn:hr:239:730296
Datum objave publikacije2010
URL dokumentahttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917711/
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2020-03-30 10:02:01