Sobol M - Search Results

1

Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling.

Schuster J, Halvardson J, Pilar Lorenzo L, Ameur A, Sobol M, Raykova D, Annerén G, Feuk L, Dahl N. Schuster J, et al. Among authors: sobol m. Cell Reprogram. 2015 Oct;17(5):327-37. doi: 10.1089/cell.2015.0009. Epub 2015 Sep 8. Cell Reprogram. 2015. PMID: 26348590

2

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome.

Sobol M, Dahl N, Klar J. Sobol M, et al. BMC Res Notes. 2011 Mar 30;4:90. doi: 10.1186/1756-0500-4-90. BMC Res Notes. 2011. PMID: 21450060 Free PMC article.

3

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

Fröjmark AS, Schuster J, Sobol M, Entesarian M, Kilander MBC, Gabrikova D, Nawaz S, Baig SM, Schulte G, Klar J, Dahl N. Fröjmark AS, et al. Among authors: sobol m. Am J Hum Genet. 2011 Jun 10;88(6):852-860. doi: 10.1016/j.ajhg.2011.05.013. Am J Hum Genet. 2011. PMID: 21665003 Free PMC article.

4

Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.

Klar J, Sobol M, Melberg A, Mäbert K, Ameur A, Johansson AC, Feuk L, Entesarian M, Orlén H, Casar-Borota O, Dahl N. Klar J, et al. Among authors: sobol m. Hum Mutat. 2013 Apr;34(4):572-7. doi: 10.1002/humu.22282. Hum Mutat. 2013. PMID: 23348830

5

Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage.

Sobol M, Raykova D, Cavelier L, Khalfallah A, Schuster J, Dahl N. Sobol M, et al. Stem Cells Dev. 2015 Sep 1;24(17):2032-40. doi: 10.1089/scd.2015.0061. Epub 2015 May 18. Stem Cells Dev. 2015. PMID: 25867454

6

Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture.

Pijuan-Galitó S, Tamm C, Schuster J, Sobol M, Forsberg L, Merry CL, Annerén C. Pijuan-Galitó S, et al. Among authors: sobol m. Nat Commun. 2016 Jul 13;7:12170. doi: 10.1038/ncomms12170. Nat Commun. 2016. PMID: 27405751 Free PMC article.

7

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.

Sobol M, Klar J, Laan L, Shahsavani M, Schuster J, Annerén G, Konzer A, Mi J, Bergquist J, Nordlund J, Hoeber J, Huss M, Falk A, Dahl N. Sobol M, et al. Mol Neurobiol. 2019 Oct;56(10):7113-7127. doi: 10.1007/s12035-019-1585-3. Epub 2019 Apr 13. Mol Neurobiol. 2019. PMID: 30989628 Free PMC article.

8

Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.

Schuster J, Sobol M, Fatima A, Khalfallah A, Laan L, Anderlid BM, Nordgren A, Dahl N. Schuster J, et al. Among authors: sobol m. Stem Cell Res. 2019 Aug;39:101518. doi: 10.1016/j.scr.2019.101518. Epub 2019 Jul 27. Stem Cell Res. 2019. PMID: 31376723 Free article.

9

Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations.

Schuster J, Fatima A, Sobol M, Norradin FH, Laan L, Dahl N. Schuster J, et al. Among authors: sobol m. Stem Cell Res. 2019 Aug;39:101523. doi: 10.1016/j.scr.2019.101523. Epub 2019 Jul 31. Stem Cell Res. 2019. PMID: 31400703 Free article.

10

Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment.

Schuster J, Laan L, Klar J, Jin Z, Huss M, Korol S, Noraddin FH, Sobol M, Birnir B, Dahl N. Schuster J, et al. Among authors: sobol m. Neurobiol Dis. 2019 Dec;132:104583. doi: 10.1016/j.nbd.2019.104583. Epub 2019 Aug 21. Neurobiol Dis. 2019. PMID: 31445158 Free article.

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