Przemyslaw Szafranski

Przemyslaw Szafranski

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Przemyslaw Szafranski

Przemyslaw Szafranski

Publications by authors named "Przemyslaw Szafranski"

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Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Mol Genet Genomic Med 2019 03 10;7(3):e549. Epub 2019 Jan 10.

Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/mgg3.549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418355PMC
March 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Changes in the cannabinoids receptors in rats following treatment with antidepressants.

Neurotoxicology 2017 Dec 1;63:13-20. Epub 2017 Sep 1.

Department of Toxicology, Faculty of Pharmacy, Medical College, Jagiellonian University, Medyczna 9, PL 30-688 Kraków, Poland; Institute of Pharmacology, Polish Academy of Sciences, Department of Drug Addiction Pharmacology, Smętna 12, PL 31-343 Kraków, Poland.

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http://dx.doi.org/10.1016/j.neuro.2017.08.012DOI Listing
December 2017

Intercompartmental Piecewise Gene Transfer.

Genes (Basel) 2017 Oct 6;8(10). Epub 2017 Oct 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.3390/genes8100260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664110PMC
October 2017

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

Mamm Genome 2017 Aug 12;28(7-8):275-282. Epub 2017 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00335-017-9686-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6502246PMC
August 2017

Narrowing the distant enhancer region on 16q24.1 critical for ACDMPV.

Clin Epigenetics 2016 3;8:112. Epub 2016 Nov 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, ABBR R809, Houston, TX 77030 USA.

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http://dx.doi.org/10.1186/s13148-016-0278-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093964PMC
April 2017

Assessment of the chromatographic lipophilicity of eight cephalosporins on different stationary phases.

Eur J Pharm Sci 2017 Apr 28;101:115-124. Epub 2017 Jan 28.

Department of Inorganic and Analytical Chemistry, Faculty of Pharmacy, Jagiellonian University Medical College, 9 Medyczna St, 30-688 Krakow, Poland.

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http://dx.doi.org/10.1016/j.ejps.2017.01.034DOI Listing
April 2017

Evolutionarily recent, insertional fission of mitochondrial cox2 into complementary genes in bilaterian Metazoa.

BMC Genomics 2017 03 31;18(1):269. Epub 2017 Mar 31.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, ABBR, R851C, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1186/s12864-017-3626-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374615PMC
March 2017

CAV3 mutation in a patient with transient hyperCKemia and myalgia.

Neurol Neurochir Pol 2016 Nov - Dec;50(6):468-473. Epub 2016 Jul 9.

Department of Neurology, Medical University of Warsaw, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.pjnns.2016.06.008DOI Listing
February 2017

Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family.

Pediatr Pulmonol 2016 09 4;51(9):921-7. Epub 2016 May 4.

Pediatric Pulmonary Unit, Division of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ppul.23425DOI Listing
September 2016

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

Am J Med Genet A 2016 09 4;170(9):2440-4. Epub 2016 Jul 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37822DOI Listing
September 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

J Pediatr 2016 Mar 17;170:317-8. Epub 2015 Dec 17.

Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.11.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5476418PMC
March 2016

Cardiovascular activity of the chiral xanthone derivatives.

Bioorg Med Chem 2015 Oct 5;23(20):6714-24. Epub 2015 Sep 5.

Department of Bioorganic Chemistry, Chair of Organic Chemistry, Faculty of Pharmacy, Jagiellonian University Medical College, 9 Medyczna St., 30-688 Krakow, Poland.

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http://dx.doi.org/10.1016/j.bmc.2015.09.005DOI Listing
October 2015

A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.

Am J Med Genet A 2015 Aug 8;167A(8):1842-50. Epub 2015 Jun 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37057DOI Listing
August 2015

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.

Curr Genomics 2015 Apr;16(2):107-16

Department of Molecular and Human Genetics; ; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA;

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http://dx.doi.org/10.2174/1389202916666150122223252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467301PMC
April 2015

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.

Nucleic Acids Res 2015 Feb 22;43(4):2188-98. Epub 2015 Jan 22.

Faculty of Mathematics, Informatics, and Mechanics, University of Warsaw, 2 Banacha street, 02-097 Warsaw, Poland Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawińskiego street, 02-106 Warsaw, Poland

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http://dx.doi.org/10.1093/nar/gku1394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4344489PMC
February 2015

Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

Chromosome Res 2013 Dec 20;21(8):781-8. Epub 2013 Nov 20.

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

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http://dx.doi.org/10.1007/s10577-013-9386-4DOI Listing
December 2013

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

The mitochondrial trn-cox1 locus: rapid evolution in Pompilidae and evidence of bias in cox1 initiation and termination codon usage.

Mitochondrial DNA 2009 Feb;20(1):15-25

Department of Pathology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1080/19401730802644986DOI Listing
February 2009

Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5.

J Biol Chem 2008 Mar 9;283(11):6968-78. Epub 2008 Jan 9.

Department of Molecular Cardiology, Lerner Research Institute, Center for Cardiovascular Genetics, Tausig Cancer Center, Cleveland Clinic, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1074/jbc.M709721200DOI Listing
March 2008

Basolateral junctions are sufficient to suppress epithelial invasion during Drosophila oogenesis.

Dev Dyn 2007 Feb;236(2):364-73

Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/dvdy.21020DOI Listing
February 2007

A Fasciclin 2 morphogenetic switch organizes epithelial cell cluster polarity and motility.

Development 2004 May 31;131(9):2023-36. Epub 2004 Mar 31.

Department of Pathology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1242/dev.01097DOI Listing
May 2004

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome.

Nature 2004 Feb;427(6975):640-5

Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, The Cleveland Clinic Foundation, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1038/nature02320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1618873PMC
February 2004

Expression of Drosophila neoplastic tumor suppressor genes discslarge, scribble, and lethal giant larvae in the mammalian ovary.

Gene Expr Patterns 2003 Mar;3(1):3-11

Department of Pathology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/s1567-133x(02)00096-0DOI Listing
March 2003