Przemyslaw Szafranski Selected Research

Persistent Fetal Circulation Syndrome

6/2022	Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?
7/2021	Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.
1/2021	Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.
1/2020	Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development.
11/2019	A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
1/2019	Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
12/2018	LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
1/2018	Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.
5/2016	Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
1/2016	Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV.

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Przemyslaw Szafranski Research Topics

Disease

14	Persistent Fetal Circulation Syndrome 06/2022 - 01/2013
4	Language Development Disorders (Semantic-Pragmatic Disorder) 10/2017 - 07/2015
2	Carcinogenesis 01/2021 - 02/2007
2	Alveolar capillary dysplasia 01/2018 - 06/2013
2	Microcephaly 10/2017 - 11/2013
2	Intellectual Disability (Idiocy) 01/2017 - 01/2017
2	Autism Spectrum Disorder 01/2017 - 01/2017
1	Single Umbilical Artery 06/2022
1	Tetralogy of Fallot (Fallot Tetralogy) 06/2022
1	Urogenital Abnormalities 06/2022
1	Fibrosis (Cirrhosis) 01/2021
1	Congenital Abnormalities (Deformity) 01/2019
1	Pulmonary Arterial Hypertension 01/2016
1	Pulmonary Hypertension 01/2016
1	Pierre Robin Syndrome (Syndrome, Pierre Robin) 08/2015
1	Metabolic Bone Diseases (Osteopenia) 08/2015
1	Multiple Fractures 08/2015
1	Megalencephaly 07/2015
1	Warts (Wart) 04/2008
1	Sudden Death 03/2008
1	Cardiac Arrhythmias (Arrythmia) 03/2008
1	Vascular Diseases (Vascular Disease) 02/2004
1	Klippel-Trenaunay-Weber Syndrome (Syndrome, Klippel-Trenaunay-Weber) 02/2004

Drug/Important Bio-Agent (IBA)

6	Long Noncoding RNAIBA 06/2022 - 01/2013
5	Transcription Factors (Transcription Factor)IBA 06/2022 - 04/2008
2	NucleotidesIBA 07/2021 - 11/2019
2	RNA (Ribonucleic Acid)IBA 07/2021 - 01/2021
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2017 - 01/2017
2	Proteins (Proteins, Gene)FDA Link 04/2008 - 02/2007
1	Neuropilin-1IBA 07/2021
1	Semaphorins (Semaphorin)IBA 07/2021
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 07/2021
1	hydrogen sulfite (bisulfite)IBA 01/2019
1	Retroelements (Retrotransposon)IBA 12/2018
1	ChromatinIBA 10/2017
1	Oxygen (Dioxygen)IBA 01/2016
1	SteroidsIBA 01/2016
1	ElementsIBA 08/2015
1	Phosphotransferases (Kinase)IBA 07/2015
1	Insulin-Like PeptidesIBA 11/2013
1	DNA (Deoxyribonucleic Acid)IBA 06/2013
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 04/2008
1	Sodium Channels (Sodium Channel)IBA 03/2008
1	Angiogenesis Inducing Agents (Angiogenesis Factor)IBA 02/2004

Therapy/Procedure

1	Drug Therapy (Chemotherapy) 01/2021
1	Lung Transplantation 01/2018
1	Therapeutics 01/2016