Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Paweł Stankiewicz"'
Autor:
Przemyslaw Szafranski, Rijutha P. Garimella, Haresh Mani, Ryan Hartman, Gail Deutsch, Alan Silk, Alan Benheim, Paweł Stankiewicz
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-6 (2023)
Abstract Heterozygous SNVs or CNV deletions involving the FOXF1 gene, or its distant enhancer, are causative for 80–90% of cases of alveolar capillary dysplasia with misalignment of pulmonary veins. Recently, we proposed bimodal structure and paren
Externí odkaz:
https://doaj.org/article/f586cec64f4549ceaf3bf3d1ae46ce56
Autor:
Barbara Poszewiecka, Krzysztof Gogolewski, Justyna A. Karolak, Paweł Stankiewicz, Anna Gambin
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-23 (2023)
Abstract Resolving complex genomic regions rich in segmental duplications (SDs) is challenging due to the high error rate of long-read sequencing. Here, we describe a targeted approach with a novel genome assembler PhaseDancer that extends SD-rich re
Externí odkaz:
https://doaj.org/article/1da674f077d64a558178a1d2ce901c11
Autor:
Przemyslaw Szafranski, Tadeusz Majewski, Esra Yıldız Bölükbaşı, Tomasz Gambin, Justyna A. Karolak, Nahir Cortes-Santiago, Markus Bruckner, Gabriele Amann, Denisa Weis, Paweł Stankiewicz
Publikováno v:
Genes and Diseases, Vol 9, Iss 6, Pp 1423-1426 (2022)
Externí odkaz:
https://doaj.org/article/5f5a339f752044c5a00479c49bb9f116
Publikováno v:
BMC Genomics, Vol 23, Iss S6, Pp 1-16 (2022)
Abstract Background The reduction of the chromosome number from 48 in the Great Apes to 46 in modern humans is thought to result from the end-to-end fusion of two ancestral non-human primate chromosomes forming the human chromosome 2 (HSA2). Genomic
Externí odkaz:
https://doaj.org/article/1940433a3fcf49dfba467160f401a600
Publikováno v:
Non-Coding RNA, Vol 9, Iss 5, p 61 (2023)
Pathogenic single-nucleotide variants (SNVs) and copy-number variant (CNV) deletions involving the FOXF1 transcription factor gene or CNV deletions of its distant lung-specific enhancer are responsible for alveolar capillary dysplasia with misalignme
Externí odkaz:
https://doaj.org/article/8c3acaa1ad4d4e66a710c9a0dd9de961
Autor:
Daniel D. Domogala, Tomasz Gambin, Roni Zemet, Chung Wah Wu, Katharina V. Schulze, Yaping Yang, Theresa A. Wilson, Ido Machol, Pengfei Liu, Paweł Stankiewicz
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)
Abstract Background Due to the limitations of the current routine diagnostic methods, low-level somatic mosaicism with variant allele fraction (VAF)
Externí odkaz:
https://doaj.org/article/a079991ce3584d29b2db22f250c93147
Autor:
Esra Yıldız Bölükbaşı, Justyna A. Karolak, Przemyslaw Szafranski, Tomasz Gambin, Nicholas Willard, Steven H. Abman, Csaba Galambos, John P. Kinsella, Paweł Stankiewicz
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 11, Pp n/a-n/a (2022)
Abstract Background Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) results from haploinsufficiency of the mesenchymal transcription factor FOXF1 gene. To date, only one case of an ACDMPV‐causative CNV deletion inherited
Externí odkaz:
https://doaj.org/article/0451161a9ae846f480b268911a95f375
Autor:
Justyna A. Karolak, Tomasz Gambin, Przemyslaw Szafranski, Rebecca L. Maywald, Edwina Popek, Jason D. Heaney, Paweł Stankiewicz
Publikováno v:
Respiratory Research, Vol 22, Iss 1, Pp 1-11 (2021)
Abstract Background Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal congenital lung disorder in neonates characterized by severe progressive respiratory failure and refractory pulmonary hypertension, result
Externí odkaz:
https://doaj.org/article/0a9290321c82455397478f38d62e10f4
Publikováno v:
Respiratory Research, Vol 22, Iss 1, Pp 1-15 (2021)
Abstract Background The epithelial-mesenchymal signaling involving SHH-FOXF1, TBX4-FGF10, and TBX2 pathways is an essential transcriptional network operating during early lung organogenesis. However, precise regulatory interactions between different
Externí odkaz:
https://doaj.org/article/75b668b1e23a49d088bac364480c5412
Autor:
Zuzanna Kozłowska, Zuzanna Owsiańska, Joanna P. Wroblewska, Apolonia Kałużna, Andrzej Marszałek, Yogen Singh, Bartłomiej Mroziński, Qian Liu, Justyna A. Karolak, Paweł Stankiewicz, Gail Deutsch, Marta Szymankiewicz-Bręborowicz, Tomasz Szczapa
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Background Alveolar capillary dysplasia (ACD) is a rare cause of severe pulmonary hypertension and respiratory failure in neonates. The onset of ACD is usually preceded by a short asymptomatic period. The condition is refractory to all avail
Externí odkaz:
https://doaj.org/article/76cc8384c7354543b6c9647b65fc9007