Works by Karolak, Justyna A

Results: 37

High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.

Published in:

2022

By:

Yıldız Bölükbaşı, Esra;
Karolak, Justyna A.;
Szafranski, Przemyslaw;
Gambin, Tomasz;
Willard, Nicholas;
Abman, Steven H.;
Galambos, Csaba;
Kinsella, John P.;
Stankiewicz, Paweł

Publication type:

Case Study

Macrolide and lincosamide resistance of Streptococcus agalactiae in pregnant women in Poland.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54521-y

By:

Kamińska, Dorota;
Ratajczak, Magdalena;
Nowak-Malczewska, Dorota M.;
Karolak, Justyna A.;
Kwaśniewski, Marek;
Szumala-Kakol, Anna;
Dlugaszewska, Jolanta;
Gajecka, Marzena

Publication type:

Article

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

Published in:

2021

By:

Karolak, Justyna A.;
Gambin, Tomasz;
Szafranski, Przemyslaw;
Maywald, Rebecca L.;
Popek, Edwina;
Heaney, Jason D.;
Stankiewicz, Paweł

Publication type:

journal article

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

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 694, doi. 10.1002/humu.24198

By:

Szafranski, Przemyslaw;
Gambin, Tomasz;
Karolak, Justyna A.;
Popek, Edwina;
Stankiewicz, Paweł

Publication type:

Article

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

Published in:

Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0655-8

By:

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

Publication type:

Article

Single cell multiomics identifies cells and genetic networks underlying alveolar capillary dysplasia.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2023, v. 208, n. 6, p. E1, doi. 10.1164/rccm.202210-2015oc

By:

Minzhe Guo;
Wikenheiser-Brokamp, Kathryn A.;
Kitzmiller, Joseph A.;
Cheng Jiang;
Guolun Wang;
Wang, Allen;
Preissl, Sebastian;
Xiaomeng Hou;
Buchanan, Justin;
Karolak, Justyna A.;
Yifei Miao;
Frank, David B.;
Zacharias, William J.;
Xin Sun;
Yan Xu;
Mingxia Gu;
Stankiewicz, Pawel;
Kalinichenko, Vladimir V.;
Wambach, Jennifer A.;
Whitsett, Jeffrey A.

Publication type:

Article

Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2023, v. 208, n. 6, p. 709, doi. 10.1164/rccm.202210-2015OC

By:

Minzhe Guo;
Wikenheiser-Brokamp, Kathryn A.;
Kitzmiller, Joseph A.;
Cheng Jiang;
Guolun Wang;
Wang, Allen;
Preissl, Sebastian;
Xiaomeng Hou;
Buchanan, Justin;
Karolak, Justyna A.;
Yifei Miao;
Frank, David B.;
Zacharias, William J.;
Xin Sun;
Yan Xu;
Mingxia Gu;
Stankiewicz, Pawel;
Kalinichenko, Vladimir V.;
Wambach, Jennifer A.;
Whitsett, Jeffrey A.

Publication type:

Article

Molecular Function and Contribution of in Development and Disease.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 7, p. 855, doi. 10.1164/rccm.202206-1039TR

By:

Karolak, Justyna A.;
Welch, Carrie L.;
Mosimann, Christian;
Bzdęga, Katarzyna;
West, James D.;
Montani, David;
Eyries, Mélanie;
Mullen, Mary P.;
Abman, Steven H.;
Prapa, Matina;
Gräf, Stefan;
Morrell, Nicholas W.;
Hemnes, Anna R.;
Perros, Frédéric;
Hamid, Rizwan;
Logan, Malcolm P. O.;
Whitsett, Jeffrey;
Galambos, Csaba;
Stankiewicz, Paweł;
Chung, Wendy K.

Publication type:

Article

Molecular function and contribution of TBX4 in development and disease.

Published in:

2023

By:

Karolak, Justyna A.;
Welch, Carrie L.;
Mosimann, Christian;
Bzdęga, Katarzyna;
West, James D.;
Montani, David;
Eyries, Mélanie;
Mullen, Mary P.;
Abman, Steven H.;
Prapa, Matina;
Gräf, Stefan;
Morrell, Nicholas W.;
Hemnes, Anna R.;
Perros, Frédéric;
Hamid, Rizwan;
Logan, Malcolm P. O.;
Whitsett, Jeffrey;
Galambos, Csaba;
Stankiewicz, Paweł;
Chung, Wendy K.

Publication type:

Chart/Diagram/Graph

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

Published in:

2019

By:

Vincent, Marie;
Karolak, Justyna A.;
Deutsch, Gail;
Gambin, Tomasz;
Popek, Edwina;
Isidor, Bertrand;
Szafranski, Przemyslaw;
Caignec, Cedric Le;
Stankiewicz, Paweł;
Le Caignec, Cedric

Publication type:

journal article

Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia.

Published in:

2020

By:

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

Publication type:

journal article

Differences in the composition of the bacterial element of the urinary tract microbiome in patients undergoing dialysis and patients after kidney transplantation.

Published in:

Frontiers in Microbiology, 2023, p. 01, doi. 10.3389/fmicb.2023.1187625

By:

Jaworska, Marcelina M.;
Pecyna, Paulina;
Jaskiewicz, Katarzyna;
Rydzanicz, Małgorzata;
Kaluzna, Malgorzata;
Pawlaczyk, Krzysztof;
Ploski, Rafal;
Nowak-Malczewska, Dorota M.;
Karolak, Justyna A.;
Gajecka, Marzena

Publication type:

Article

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

Published in:

2021

By:

Karolak, Justyna A.;
Gambin, Tomasz;
Szafranski, Przemyslaw;
Stankiewicz, Paweł

Publication type:

journal article

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.

Published in:

Human Genetics, 2019, v. 138, n. 11/12, p. 1301, doi. 10.1007/s00439-019-02073-x

By:

Szafranski, Przemyslaw;
Liu, Qian;
Karolak, Justyna A.;
Song, Xiaofei;
de Leeuw, Nicole;
Faas, Brigitte;
Gerychova, Romana;
Janku, Petr;
Jezova, Marta;
Valaskova, Iveta;
Gibbs, Kathleen A.;
Surrey, Lea F.;
Poisson, Virginie;
Bérubé, Denis;
Oligny, Luc L.;
Michaud, Jacques L.;
Popek, Edwina;
Stankiewicz, Paweł

Publication type:

Article

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung‐specific enhancer in trans to the frameshifting TBX4 variant.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1420, doi. 10.1002/ajmg.a.62656

By:

Yıldız Bölükbaşı, Esra;
Karolak, Justyna A.;
Szafranski, Przemyslaw;
Gambin, Tomasz;
Murik, Omer;
Zeevi, David A.;
Altarescu, Gheona;
Stankiewicz, Paweł

Publication type:

Article

Diminished TMEM 100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report.

Published in:

Pediatric & Developmental Pathology, 2024, v. 27, n. 3, p. 255, doi. 10.1177/10935266231213464

By:

Szafranski, Przemyslaw;
Patrizi, Silvia;
Gambin, Tomasz;
Afzal, Bushra;
Schlotterbeck, Emily;
Karolak, Justyna A.;
Deutsch, Gail;
Roberts, Drucilla;
Stankiewicz, Paweł

Publication type:

Article

LINE‐ and Alu‐containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1916, doi. 10.1002/humu.23608

By:

Szafranski, Przemyslaw;
Kośmider, Ewelina;
Liu, Qian;
Karolak, Justyna A.;
Currie, Lauren;
Parkash, Sandhya;
Kahler, Stephen G.;
Roeder, Elizabeth;
Littlejohn, Rebecca O.;
DeNapoli, Thomas S.;
Shardonofsky, Felix R.;
Henderson, Cody;
Powers, George;
Poisson, Virginie;
Bérubé, Denis;
Oligny, Luc;
Michaud, Jacques L.;
Janssens, Sandra;
Coen, Kris;
Dorpe, Jo

Publication type:

Article

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

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40299-x

By:

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

Publication type:

Article

PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution.

Published in:

Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-03022-8

By:

Poszewiecka, Barbara;
Gogolewski, Krzysztof;
Karolak, Justyna A.;
Stankiewicz, Paweł;
Gambin, Anna

Publication type:

Article

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

Published in:

Pathogens, 2021, v. 10, n. 4, p. 405, doi. 10.3390/pathogens10040405

By:

Matysiak, Anna;
Kabza, Michal;
Karolak, Justyna A.;
Jaworska, Marcelina M.;
Rydzanicz, Malgorzata;
Ploski, Rafal;
Szaflik, Jacek P.;
Gajecka, Marzena

Publication type:

Article

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

Published in:

Database: The Journal of Biological Databases & Curation, 2017, v. 2017, n. 1, p. 1, doi. 10.1093/database/baw168

By:

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

Publication type:

Article

A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 190, doi. 10.1111/cge.14428

By:

Bzdęga, Katarzyna;
Biela, Mateusz;
Deutsch, Gail H.;
Kitzmiller, Joseph A.;
Rydzanicz, Małgorzata;
Płoski, Rafał;
Whitsett, Jeffrey A.;
Śmigiel, Robert;
Karolak, Justyna A.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 4, p. 389, doi. 10.1038/ejhg.2011.203

By:

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

Publication type:

Article

Genomic strategies to understand causes of keratoconus.

Published in:

Molecular Genetics & Genomics, 2017, v. 292, n. 2, p. 251, doi. 10.1007/s00438-016-1283-z

By:

Karolak, Justyna;
Gajecka, Marzena

Publication type:

Article

Sequence variants contributing to dysregulated inflammatory responses across keratoconic cone surface in adolescent patients with keratoconus.

Published in:

Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1197054

By:

Jaskiewicz, Katarzyna;
Maleszka-Kurpiel, Magdalena;
Kabza, Michał;
Karolak, Justyna A.;
Gajecka, Marzena

Publication type:

Article

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

Published in:

Clinical Genetics, 2019, v. 96, n. 4, p. 366, doi. 10.1111/cge.13605

By:

Karolak, Justyna A.;
Szafranski, Przemyslaw;
Kilner, David;
Patel, Chirag;
Scurry, Bonnie;
Kinning, Esther;
Chandler, Kate;
Jhangiani, Shalini N.;
Coban Akdemir, Zeynep H.;
Lupski, James R.;
Popek, Edwina;
Stankiewicz, Paweł

Publication type:

Article

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.

Published in:

BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-0701-6

By:

Karolak, Justyna A.;
Gambin, Tomasz;
Honey, Engela M.;
Slavik, Tomas;
Popek, Edwina;
Stankiewicz, Paweł

Publication type:

Article

Phenotypic spectrum of FGF10-related disorders: a systematic review.

Published in:

PeerJ, 2022, p. 1, doi. 10.7717/peerj.14003

By:

Bzdega, Katarzyna;
Karolak, Justyna A.

Publication type:

Article

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

Published in:

PeerJ, 2020, p. 1, doi. 10.7717/peerj.9793

By:

Karolak, Justyna A.;
Ginter-Matuszewska, Barbara;
Tomela, Katarzyna;
Kabza, Michal;
Nowak-Malczewska, Dorota M.;
Rydzanicz, Malgorzata;
Polakowski, Piotr;
Szaflik, Jacek P.;
Gajecka, Marzena

Publication type:

Article

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

Published in:

PeerJ, 2020, p. 1, doi. 10.7717/peerj.8982

By:

Karolak, Justyna A.;
Gambin, Tomasz;
Rydzanicz, Malgorzata;
Polakowski, Piotr;
Ploski, Rafal;
Szaflik, Jacek P.;
Gajecka, Marzena

Publication type:

Article

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24 , and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.

Published in:

Ophthalmic Genetics, 2016, v. 37, n. 1, p. 37, doi. 10.3109/13816810.2014.926375

By:

Karolak, Justyna A.;
Polakowski, Piotr;
Szaflik, Jerzy;
Szaflik, Jacek P.;
Gajecka, Marzena

Publication type:

Article

Evidence against ZNF469 being causative for keratoconus in Polish patients.

Published in:

Acta Ophthalmologica (1755375X), 2016, v. 94, n. 3, p. 289, doi. 10.1111/aos.12968

By:

Karolak, Justyna A.;
Gambin, Tomasz;
Rydzanicz, Malgorzata;
Szaflik, Jacek P.;
Polakowski, Piotr;
Frajdenberg, Agata;
Mrugacz, Malgorzata;
Podfigurna ‐ Musielak, Monika;
Stankiewicz, Pawel;
Gajecka, Marzena

Publication type:

Article

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2272, doi. 10.1002/ajmg.a.61338

By:

Karolak, Justyna A.;
Bacolla, Albino;
Liu, Qian;
Lantz, Patrick E.;
Petty, John;
Trapane, Pamela;
Panzer, Karin;
Totapally, Balagangadhar R.;
Niu, Zhiyv;
Xiao, Rui;
Xie, Nina G.;
Wu, Lucia R.;
Szafranski, Przemyslaw;
Zhang, David Y.;
Stankiewicz, Paweł

Publication type:

Article

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1906, doi. 10.1002/ajmg.a.34100

By:

Rosenfeld, Jill A.;
Drautz, Joanne Milisa;
Clericuzio, Carol L.;
Cushing, Tom;
Raskin, Salmo;
Martin, Judith;
Tervo, Raymond C.;
Pitarque, Jose A.;
Nowak, Dorota M.;
Karolak, Justyna A.;
Lamb, Allen N.;
Schultz, Roger A.;
Ballif, Blake C.;
Bejjani, Bassem A.;
Gajecka, Marzena;
Shaffer, Lisa G.

Publication type:

Article

Transcriptome and Immunohistochemical Analyses in TBX4- and FGF10-Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2022, v. 66, n. 6, p. 694, doi. 10.1165/rcmb.2021-0470le

By:

Karolak, Justyna A.;
Deutsch, Gail;
Gambin, Tomasz;
Szafranski, Przemyslaw;
Popek, Edwina;
Stankiewicz, Paweł

Publication type:

Article

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

Published in:

Mammalian Genome, 2017, v. 28, n. 7/8, p. 275, doi. 10.1007/s00335-017-9686-7

By:

Szafranski, Przemyslaw;
Karolak, Justyna;
Lanza, Denise;
Gajęcka, Marzena;
Heaney, Jason;
Stankiewicz, Paweł

Publication type:

Article

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis.

Published in:

Genes, 2023, v. 14, n. 3, p. 563, doi. 10.3390/genes14030563

By:

Bzdęga, Katarzyna;
Kutkowska-Kaźmierczak, Anna;
Deutsch, Gail H.;
Plaskota, Izabela;
Smyk, Marta;
Niemiec, Magdalena;
Barczyk, Artur;
Obersztyn, Ewa;
Modzelewski, Jan;
Lipska, Iwona;
Stankiewicz, Paweł;
Gajecka, Marzena;
Rydzanicz, Małgorzata;
Płoski, Rafał;
Szczapa, Tomasz;
Karolak, Justyna A.

Publication type:

Article