Genomic strategies to understand causes of keratoconus

par Karolak, Justyna A., Gajecka, Marzena
Publié dans Mol Genet Genomics (2016)

Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq

par Karolak, Justyna A., Gambin, Tomasz, Szafranski, Przemyslaw, Stankiewicz, Paweł
Publié dans Respir Res (2021)

Lung-specific distant enhancer cis-regulates expression of FOXF1 and lncRNA FENDRR

par Szafranski, Przemyslaw, Gambin, Tomasz, Karolak, Justyna A., Popek, Edwina, Stankiewicz, Paweł
Publié dans Hum Mutat (2021)

CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region

par Szafranski, Przemyslaw, Karolak, Justyna A., Lanza, Denise, Gajęcka, Marzena, Heaney, Jason, Stankiewicz, Paweł
Publié dans Mamm Genome (2017)

A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report...

par Karolak, Justyna A., Gambin, Tomasz, Honey, Engela M., Slavik, Tomas, Popek, Edwina, Stankiewicz, Paweł
Publié dans BMC Med Genomics (2020)

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus

par Karolak, Justyna A., Gambin, Tomasz, Rydzanicz, Malgorzata, Polakowski, Piotr, Ploski, Rafal, Szaflik, Jacek P., Gajecka, Marzena
Publié dans PeerJ (2020)

IGF-1 gene polymorphisms in Polish families with high-grade myopia

par Rydzanicz, Malgorzata, Nowak, Dorota M., Karolak, Justyna A., Frajdenberg, Agata, Podfigurna-Musielak, Monika, Mrugacz, Malgorzata, Gajecka, Marzena
Publié 2011

Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency

par Karolak, Justyna A., Gambin, Tomasz, Szafranski, Przemyslaw, Maywald, Rebecca L., Popek, Edwina, Heaney, Jason D., Stankiewicz, Paweł
Publié dans Respir Res (2021)

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

par Karolak, Justyna A, Gambin, Tomasz, Pitarque, Jose A, Molinari, Andrea, Jhangiani, Shalini, Stankiewicz, Pawel, Lupski, James R, Gajecka, Marzena
Publié dans Eur J Hum Genet (2016)

Characterization of Ocular Surface Microbial Profiles Revealed Discrepancies between Conjunctival and Corneal Microbiota

par Matysiak, Anna, Kabza, Michal, Karolak, Justyna A., Jaworska, Marcelina M., Rydzanicz, Malgorzata, Ploski, Rafal, Szaflik, Jacek P., Gajecka, Marzena
Publié dans Pathogens (2021)

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus

par Karolak, Justyna A., Kulinska, Karolina, Nowak, Dorota M., Pitarque, Jose A., Molinari, Andrea, Rydzanicz, Malgorzata, Bejjani, Bassem A., Gajecka, Marzena
Publié 2011

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

par Vincent, Marie, Karolak, Justyna A., Deutsch, Gail, Gambin, Tomasz, Popek, Edwina, Isidor, Bertrand, Szafranski, Przemyslaw, Le Caignec, Cedric, Stankiewicz, Paweł
Publié dans Am J Respir Crit Care Med (2019)

Further evaluation of differential expression of keratoconus candidate genes in human corneas

par Karolak, Justyna A., Ginter-Matuszewska, Barbara, Tomela, Katarzyna, Kabza, Michal, Nowak-Malczewska, Dorota M., Rydzanicz, Malgorzata, Polakowski, Piotr, Szaflik, Jacek P., Gajecka, Marzena
Publié dans PeerJ (2020)

KTCNlncDB—a first platform to investigate lncRNAs expressed in human keratoconus and non-keratoconus corneas

par Szcześniak, Michał W., Kabza, Michal, Karolak, Justyna A., Rydzanicz, Malgorzata, Nowak, Dorota M., Ginter-Matuszewska, Barbara, Polakowski, Piotr, Ploski, Rafal, Szaflik, Jacek P., Gajecka, Marzena
Publié dans Database (Oxford) (2017)

Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas

par Kabza, Michal, Karolak, Justyna A, Rydzanicz, Malgorzata, Szcześniak, Michał W, Nowak, Dorota M, Ginter-Matuszewska, Barbara, Polakowski, Piotr, Ploski, Rafal, Szaflik, Jacek P, Gajecka, Marzena
Publié dans Eur J Hum Genet (2017)

Epigenetically dysregulated genes and pathways implicated in the pathogenesis of non-syndromic high myopia

par Vishweswaraiah, Sangeetha, Swierkowska, Joanna, Ratnamala, Uppala, Mishra, Nitish K., Guda, Chittibabu, Chettiar, Shiva S., Johar, Kaid R., Mrugacz, Malgorzata, Karolak, Justyna A., Gajecka, Marzena, Radhakrishna, Uppala
Publié dans Sci Rep (2019)

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus

par Czugala, Marta, Karolak, Justyna A, Nowak, Dorota M, Polakowski, Piotr, Pitarque, Jose, Molinari, Andrea, Rydzanicz, Malgorzata, Bejjani, Bassem A, Yue, Beatrice Y J T, Szaflik, Jacek P, Gajecka, Marzena
Publié 2012

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

par Karolak, Justyna A., Szafranski, Przemyslaw, Kilner, David, Patel, Chirag, Scurry, Bonnie, Kinning, Esther, Chandler, Kate, Jhangiani, Shalini N., Akdemir, Zeynep H. Coban, Lupski, James R., Popek, Edwina, Stankiewicz, Paweł
Publié dans Clin Genet (2019)

Genotype–phenotype correlation in two Polish neonates with alveolar capillary dysplasia

par Kozłowska, Zuzanna, Owsiańska, Zuzanna, Wroblewska, Joanna P., Kałużna, Apolonia, Marszałek, Andrzej, Singh, Yogen, Mroziński, Bartłomiej, Liu, Qian, Karolak, Justyna A., Stankiewicz, Paweł, Deutsch, Gail, Szymankiewicz-Bręborowicz, Marta, Szczapa, Tomasz
Publié dans BMC Pediatr (2020)

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

par Schulze, Katharina V., Szafranski, Przemyslaw, Lesmana, Harry, Hopkin, Robert J., Hamvas, Aaron, Wambach, Jennifer A., Shinawi, Marwan, Zapata, Gladys, Carvalho, Claudia M. B., Liu, Qian, Karolak, Justyna A., Lupski, James R., Hanchard, Neil A., Stankiewicz, Paweł
Publié dans Clin Epigenetics (2019)