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Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
Genetics in Medicine, 22 (2020), 3; 610-621. https://doi.org/10.1038/s41436-019-0698-4
Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Barić, Ivo; Broué, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M.; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Ekşi; Feillet, François; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; Konstantopoulou, Vassiliki; Kopajtich, Robert; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Larson-Nath, Catherine; Leibner, Alexander; Lurz, Eberhard; Mayr, Johannes A.; McKiernan, Patrick; Mention, Karine; Moog, Ute; Mungan, Neslihan Onenli; Riedhammer, Korbinian M.; Santer, René; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S.; Wiedemann, Arnaud; Wortmann, Saskia B.; Diwan, Gaurav D.; Russell, Robert B.; Prokisch, Holger; Garbade, Sven F.; Kölker, Stefan; Hoffmann, Georg F.; Lenz, Dominic Više autora...

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Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P. ... Lenz, D. (2020). Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients. Genetics in Medicine, 22. (3), 610-621. doi: 10.1038/s41436-019-0698-4

Staufner, Christian, et al. "Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients." Genetics in Medicine, vol. 22, br. 3, 2020, str. 610-621. https://doi.org/10.1038/s41436-019-0698-4

Staufner, Christian, Bianca Peters, Matias Wagner, Seham Alameer, Ivo Barić, Pierre Broué, Derya Bulut, et al. "Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients." Genetics in Medicine 22, br. 3 (2020): 610-621. https://doi.org/10.1038/s41436-019-0698-4

Staufner, C., et al. (2020) 'Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients', Genetics in Medicine, 22(3), str. 610-621. doi: 10.1038/s41436-019-0698-4

Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, i sur.. Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients. Genetics in Medicine [Internet]. 03.2020. [pristupljeno 19.12.2024.];22(3):610-621. doi: 10.1038/s41436-019-0698-4

C. Staufner, et al., "Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients", Genetics in Medicine, vol. 22, br. 3, str. 610-621, Ožujak 2020. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:048976. [Citirano: 19.12.2024.]

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Naslov (engleski)Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
AutorChristian Staufner
AutorBianca Peters
AutorMatias Wagner
AutorSeham Alameer
AutorIvo Barić
AutorPierre Broué
AutorDerya Bulut
AutorJoseph A. Church
AutorEllen Crushell
AutorBuket Dalgıç
AutorAnibh M. Das
AutorAnke Dick
AutorNicola Dikow
AutorCarlo Dionisi-Vici
AutorFelix Distelmaier
AutorNeslihan Ekşi Bozbulut
AutorFrançois Feillet
AutorEmmanuel Gonzales
AutorNedim Hadzic
AutorFabian Hauck
AutorRobert Hegarty
AutorMaja Hempel
AutorTheresia Herget
AutorChristoph Klein
AutorVassiliki Konstantopoulou
AutorRobert Kopajtich
AutorAlice Kuster
AutorMartin W. Laass
AutorElke Lainka
AutorCatherine Larson-Nath
AutorAlexander Leibner
AutorEberhard Lurz
AutorJohannes A. Mayr
AutorPatrick McKiernan
AutorKarine Mention
AutorUte Moog
AutorNeslihan Onenli Mungan
AutorKorbinian M. Riedhammer
AutorRené Santer
AutorIrene Valenzuela Palafoll
AutorJerry Vockley
AutorDominik S. Westphal
AutorArnaud Wiedemann
AutorSaskia B. Wortmann
AutorGaurav D. Diwan
AutorRobert B. Russell
AutorHolger Prokisch
AutorSven F. Garbade
AutorStefan Kölker
AutorGeorg F. Hoffmann
AutorDominic Lenz
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
Purpose: Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis. ----- Methods: Individuals with biallelic variants in NBAS were recruited within an international, multicenter study, including novel and previously published patients. Clinical variables were analyzed with log-linear models and visualized by mosaic plots; facial profiles were investigated via DeepGestalt. The structure of the NBAS protein was predicted using computational methods. ----- Results: One hundred ten individuals from 97 families with biallelic pathogenic NBAS variants were identified, including 26 novel patients with 19 previously unreported variants, giving a total number of 86 variants. Protein modeling redefined the β-propeller domain of NBAS. Based on the localization of missense variants and in-frame deletions, three clinical subgroups arise that differ significantly regarding main clinical features and are directly related to the affected region of the NBAS protein: β-propeller (combined phenotype), Sec39 (infantile liver failure syndrome type 2/ILFS2), and C-terminal (short stature, optic atrophy, and Pelger-Huët anomaly/SOPH). ----- Conclusion: We define clinical subgroups of NBAS-associated disease that can guide patient management and point to domain-specific functions of NBAS.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaGenetics in Medicine
Brojčani podacivol. 22, br. 3, str. 610-621
p-ISSN1098-3600
e-ISSN1530-0366
DOIhttps://doi.org/10.1038/s41436-019-0698-4
URN:NBNurn:nbn:hr:105:048976
Datum objave publikacije2020-03
URL dokumentahttp://www.nature.com/articles/s41436-019-0698-4
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2021-01-07 12:45:45