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Pregled bibliografske jedinice broj: 1260520

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Barić, Ivo; Broué, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgıç, Buket et al.
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients // Genetics in Medicine, 22 (2020), 3; 610-621 doi:10.1038/s41436-019-0698-4 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1260520 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Autori
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

Izvornik
Genetics in Medicine (1098-3600) 22 (2020), 3; 610-621

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
NBAS ; RALF ; SOPH syndrome ; acute liver failure ; infantile liver failure syndrome type 2.

Sažetak
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

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Ivo Barić (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Barić, Ivo; Broué, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgıç, Buket et al.
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients // Genetics in Medicine, 22 (2020), 3; 610-621 doi:10.1038/s41436-019-0698-4 (međunarodna recenzija, članak, znanstveni)
Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J., Crushell, E. & Dalgıç, B. (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.
@article{article, author = {Staufner, Christian and Peters, Bianca and Wagner, Matias and Alameer, Seham and Bari\'{c}, Ivo and Brou\'{e}, Pierre and Bulut, Derya and Church, Joseph A. and Crushell, Ellen and Dalg\i\c{c}, Buket and Das, Anibh M. and Dick, Anke and Dikow, Nicola and Dionisi-Vici, Carlo and Distelmaier, Felix and Bozbulut, Neslihan Ek\c{s}i and Feillet, Fran\c{c}ois and Gonzales, Emmanuel and Hadzic, Nedim and Hauck, Fabian and Hegarty, Robert and Hempel, Maja and Herget, Theresia and Klein, Christoph and Konstantopoulou, Vassiliki and Kopajtich, Robert and Kuster, Alice and Laass, Martin W. and Lainka, Elke and Larson-Nath, Catherine and Leibner, Alexander and Lurz, Eberhard and Mayr, Johannes A. and McKiernan, Patrick and Mention, Karine and Moog, Ute and Mungan, Neslihan Onenli and Riedhammer, Korbinian M. and Santer, Ren\'{e} and Palafoll, Irene Valenzuela and Vockley, Jerry and Westphal, Dominik S. and Wiedemann, Arnaud and Wortmann, Saskia B. and Diwan, Gaurav D. and Russell, Robert B. and Prokisch, Holger and Garbade, Sven F. and K\"{o}lker, Stefan and Hoffmann, Georg F. and Lenz, Dominic}, year = {2020}, pages = {610-621}, DOI = {10.1038/s41436-019-0698-4}, keywords = {NBAS, RALF, SOPH syndrome, acute liver failure, infantile liver failure syndrome type 2.}, journal = {Genetics in Medicine}, doi = {10.1038/s41436-019-0698-4}, volume = {22}, number = {3}, issn = {1098-3600}, title = {Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients}, keyword = {NBAS, RALF, SOPH syndrome, acute liver failure, infantile liver failure syndrome type 2.} }
@article{article, author = {Staufner, Christian and Peters, Bianca and Wagner, Matias and Alameer, Seham and Bari\'{c}, Ivo and Brou\'{e}, Pierre and Bulut, Derya and Church, Joseph A. and Crushell, Ellen and Dalg\i\c{c}, Buket and Das, Anibh M. and Dick, Anke and Dikow, Nicola and Dionisi-Vici, Carlo and Distelmaier, Felix and Bozbulut, Neslihan Ek\c{s}i and Feillet, Fran\c{c}ois and Gonzales, Emmanuel and Hadzic, Nedim and Hauck, Fabian and Hegarty, Robert and Hempel, Maja and Herget, Theresia and Klein, Christoph and Konstantopoulou, Vassiliki and Kopajtich, Robert and Kuster, Alice and Laass, Martin W. and Lainka, Elke and Larson-Nath, Catherine and Leibner, Alexander and Lurz, Eberhard and Mayr, Johannes A. and McKiernan, Patrick and Mention, Karine and Moog, Ute and Mungan, Neslihan Onenli and Riedhammer, Korbinian M. and Santer, Ren\'{e} and Palafoll, Irene Valenzuela and Vockley, Jerry and Westphal, Dominik S. and Wiedemann, Arnaud and Wortmann, Saskia B. and Diwan, Gaurav D. and Russell, Robert B. and Prokisch, Holger and Garbade, Sven F. and K\"{o}lker, Stefan and Hoffmann, Georg F. and Lenz, Dominic}, year = {2020}, pages = {610-621}, DOI = {10.1038/s41436-019-0698-4}, keywords = {NBAS, RALF, SOPH syndrome, acute liver failure, infantile liver failure syndrome type 2.}, journal = {Genetics in Medicine}, doi = {10.1038/s41436-019-0698-4}, volume = {22}, number = {3}, issn = {1098-3600}, title = {Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients}, keyword = {NBAS, RALF, SOPH syndrome, acute liver failure, infantile liver failure syndrome type 2.} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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