PRZEMYSLAW SZAFRANSKI to Humans
This is a "connection" page, showing publications PRZEMYSLAW SZAFRANSKI has written about Humans.
Connection Strength
0.450
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The Glu86 Residue in TBX4 Proves Critical for Human Lung Development. Am J Med Genet A. 2025 Mar; 197(3):e63936.
Score: 0.026
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Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report. Pediatr Dev Pathol. 2024 May-Jun; 27(3):255-259.
Score: 0.024
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Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia. Clin Epigenetics. 2023 10 21; 15(1):169.
Score: 0.024
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Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR. Hum Mutat. 2021 06; 42(6):694-698.
Score: 0.020
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Long Non-Coding RNA FENDRR: Gene Structure, Expression, and Biological Relevance. Genes (Basel). 2021 01 27; 12(2).
Score: 0.020
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Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype. Hum Genet. 2019 Dec; 138(11-12):1301-1311.
Score: 0.018
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LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. Hum Mutat. 2018 12; 39(12):1916-1925.
Score: 0.017
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CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region. Mamm Genome. 2017 Aug; 28(7-8):275-282.
Score: 0.015
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Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV. Clin Epigenetics. 2016; 8:112.
Score: 0.015
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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 09; 170(9):2440-4.
Score: 0.015
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.
Score: 0.014
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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015 Jul; 23(7):915-21.
Score: 0.013
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Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2014 Aug; 164A(8):2013-9.
Score: 0.013
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6q22.1 microdeletion and susceptibility to pediatric epilepsy. Eur J Hum Genet. 2015 Feb; 23(2):173-9.
Score: 0.013
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Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Mutat. 2013 Nov; 34(11):1467-71.
Score: 0.012
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Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay. Eur J Hum Genet. 2013 Nov; 21(11):1304-7.
Score: 0.012
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Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res. 2013 Jan; 23(1):23-33.
Score: 0.011
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50.
Score: 0.010
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A Fasciclin 2 morphogenetic switch organizes epithelial cell cluster polarity and motility. Development. 2004 May; 131(9):2023-36.
Score: 0.006
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Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia. Pediatr Pulmonol. 2023 10; 58(10):2746-2749.
Score: 0.006
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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. Mol Genet Genomic Med. 2022 11; 10(11):e2062.
Score: 0.006
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Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant. Eur J Hum Genet. 2022 10; 30(10):1182-1186.
Score: 0.006
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Transcriptome and Immunohistochemical Analyses in TBX4- and FGF10-Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development. Am J Respir Cell Mol Biol. 2022 06; 66(6):694-697.
Score: 0.006
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Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies? Eur J Med Genet. 2022 Jun; 65(6):104519.
Score: 0.005
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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. Am J Med Genet A. 2022 05; 188(5):1420-1425.
Score: 0.005
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Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency. Respir Res. 2021 Jul 27; 22(1):212.
Score: 0.005
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Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq. Respir Res. 2021 Jan 21; 22(1):26.
Score: 0.005
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Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. J Mol Diagn. 2020 04; 22(4):447-456.
Score: 0.005
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Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders. Am J Respir Crit Care Med. 2019 11 01; 200(9):1093-1101.
Score: 0.005
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Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development. J Med Genet. 2020 05; 57(5):296-300.
Score: 0.005
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The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia. Am J Respir Crit Care Med. 2019 10 15; 200(8):1045-1056.
Score: 0.005
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A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2019 11; 179(11):2272-2276.
Score: 0.005
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Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 10; 96(4):366-370.
Score: 0.005
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Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics. 2019 04 08; 11(1):60.
Score: 0.004
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Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Mol Genet Genomic Med. 2019 03; 7(3):e549.
Score: 0.004
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 02 07; 104(2):213-228.
Score: 0.004
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Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. J Pediatr. 2018 03; 194:158-164.e1.
Score: 0.004
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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 05; 101(4):503-515.
Score: 0.004
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386.
Score: 0.004
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Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov; 12(11):e1006446.
Score: 0.004
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CAV3 mutation in a patient with transient hyperCKemia and myalgia. Neurol Neurochir Pol. 2016 Nov - Dec; 50(6):468-473.
Score: 0.004
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Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. Pediatr Pulmonol. 2016 09; 51(9):921-7.
Score: 0.004
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Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. J Pediatr. 2016 Mar; 170:317-8.
Score: 0.004
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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; 167A(8):1842-50.
Score: 0.003
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Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination. Nucleic Acids Res. 2015 Feb 27; 43(4):2188-98.
Score: 0.003
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Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. BMC Med Genet. 2014 Dec 04; 15:128.
Score: 0.003
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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 07; 95(2):173-82.
Score: 0.003
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Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. PLoS One. 2014; 9(4):e94390.
Score: 0.003
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Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter. Chromosome Res. 2013 Dec; 21(8):781-8.
Score: 0.003
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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409.
Score: 0.003
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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; 34(6):801-11.
Score: 0.003
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81.
Score: 0.003
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
Score: 0.003
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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan; 21(1):33-46.
Score: 0.002
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Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010 Dec 10; 87(6):857-65.
Score: 0.002
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Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5. J Biol Chem. 2008 Mar 14; 283(11):6968-78.
Score: 0.002
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Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature. 2004 Feb 12; 427(6975):640-5.
Score: 0.002
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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.
Score: 0.001