PAWEL STANKIEWICZ to T-Box Domain Proteins
This is a "connection" page, showing publications PAWEL STANKIEWICZ has written about T-Box Domain Proteins.
Connection Strength
6.347
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Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family. Hum Mutat. 2026; 2026:7278477.
Score: 0.904
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Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disorders. Hum Genomics. 2026 04 30; 20(1).
Score: 0.888
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Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather. Clin Genet. 2026 01; 109(1):161-166.
Score: 0.837
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The Glu86 Residue in TBX4 Proves Critical for Human Lung Development. Am J Med Genet A. 2025 03; 197(3):e63936.
Score: 0.803
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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: 0.752
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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: 0.616
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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: 0.555
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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: 0.450
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Molecular Function and Contribution of TBX4 in Development and Disease. Am J Respir Crit Care Med. 2023 04 01; 207(7):855-864.
Score: 0.179
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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: 0.169
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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: 0.134
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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: 0.041
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Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet. 2010 Mar 12; 86(3):454-61.
Score: 0.018