John Kennedy

A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-a biologic therapy. Med. 2025 Feb 25; 100607. View A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-a biologic therapy. Abstract

Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion. Genetics in Medicine Open. 2024; 2. View Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion Abstract

Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion. Genet Med Open. 2024; 2:101831. View Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion. Abstract

Limited Effect of Prevention Strategies on Incidence of Clinically Detectable Venous Thromboembolism After Lung Transplantation. Transplant Proc. 2023 Nov; 55(9):2191-2196. View Limited Effect of Prevention Strategies on Incidence of Clinically Detectable Venous Thromboembolism After Lung Transplantation. Abstract

An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. NPJ Genom Med. 2023 Mar 06; 8(1):7. View An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. Abstract

The effect of elexacaftor/tezacaftor/ivacaftor (ETI) on glycemia in adults with cystic fibrosis. J Cyst Fibros. 2022 03; 21(2):258-263. View The effect of elexacaftor/tezacaftor/ivacaftor (ETI) on glycemia in adults with cystic fibrosis. Abstract

1-year outcomes for lung transplantation recipients with non-alcoholic fatty liver disease. ERJ Open Res. 2021 Jul; 7(3). View 1-year outcomes for lung transplantation recipients with non-alcoholic fatty liver disease. Abstract

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. PLoS Genet. 2021 07; 17(7):e1009639. View A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. Abstract

Alemtuzumab as a Therapy for Chronic Lung Allograft Dysfunction in Lung Transplant Recipients With Short Telomeres. Front Immunol. 2020; 11:1063. View Alemtuzumab as a Therapy for Chronic Lung Allograft Dysfunction in Lung Transplant Recipients With Short Telomeres. Abstract

New Developments in the Pathogenesis of Pulmonary Cysts in Birt-Hogg-Dubé Syndrome. Semin Respir Crit Care Med. 2020 04; 41(2):247-255. View New Developments in the Pathogenesis of Pulmonary Cysts in Birt-Hogg-Dubé Syndrome. Abstract

Mesenchymal folliculin is required for alveolar development: implications for cystic lung disease in Birt-Hogg-Dubé syndrome. Thorax. 2020 06; 75(6):486-493. View Mesenchymal folliculin is required for alveolar development: implications for cystic lung disease in Birt-Hogg-Dubé syndrome. Abstract

Utility of Comprehensive Assessment for Hepatic Fibrosis in Lung Transplant Candidates. J Heart Lung Transplant. 2020 Apr; 39(4S):S311-S312. View Utility of Comprehensive Assessment for Hepatic Fibrosis in Lung Transplant Candidates. Abstract

Loss of FLCN inhibits canonical WNT signaling via TFE3. Hum Mol Genet. 2019 10 01; 28(19):3270-3281. View Loss of FLCN inhibits canonical WNT signaling via TFE3. Abstract

Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis. Semin Cell Dev Biol. 2016 Apr; 52:47-52. View Mechanisms of pulmonary cyst pathogenesis in Birt-Hogg-Dube syndrome: The stretch hypothesis. Abstract

A 14-Year-Old Boy With Mycoplasma pneumoniae-Associated Mucositis and Intracranial Hypertension. Clin Pediatr (Phila). 2016 Jan; 55(1):83-5. View A 14-Year-Old Boy With Mycoplasma pneumoniae-Associated Mucositis and Intracranial Hypertension. Abstract

Improved quantitative analysis of primary bone marrow megakaryocytes utilizing imaging flow cytometry. Cytometry A. 2014 Apr; 85(4):302-12. View Improved quantitative analysis of primary bone marrow megakaryocytes utilizing imaging flow cytometry. Abstract

Chaperone-mediated autophagy is defective in mucolipidosis type IV. J Cell Physiol. 2009 May; 219(2):344-53. View Chaperone-mediated autophagy is defective in mucolipidosis type IV. Abstract

Mechanism of interferon-gamma-induced increase in T84 intestinal epithelial tight junction. J Interferon Cytokine Res. 2009 Jan; 29(1):45-54. View Mechanism of interferon-gamma-induced increase in T84 intestinal epithelial tight junction. Abstract

Cellular and molecular mechanisms of heat stress-induced up-regulation of occludin protein expression: regulatory role of heat shock factor-1. Am J Pathol. 2008 Mar; 172(3):659-70. View Cellular and molecular mechanisms of heat stress-induced up-regulation of occludin protein expression: regulatory role of heat shock factor-1. Abstract

Etiology of decreased gastric nitric oxide in the critically ill. J Investig Med. 2006 Dec; 54(8):484-9. View Etiology of decreased gastric nitric oxide in the critically ill. Abstract

Mechanism of glucocorticoid regulation of the intestinal tight junction barrier. Am J Physiol Gastrointest Liver Physiol. 2007 Feb; 292(2):G590-8. View Mechanism of glucocorticoid regulation of the intestinal tight junction barrier. Abstract

Association of a genetic marker at the corticotropin-releasing hormone locus with behavioral inhibition. Biol Psychiatry. 2003 Dec 15; 54(12):1376-81. View Association of a genetic marker at the corticotropin-releasing hormone locus with behavioral inhibition. Abstract

Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans. BMC Genomics. 2002; 3:3. View Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans. Abstract

A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2. Genomics. 2001 Apr 15; 73(2):203-10. View A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2. Abstract

Genetic association analysis of behavioral inhibition using candidate loci from mouse models. Am J Med Genet. 2001 Apr 08; 105(3):226-35. View Genetic association analysis of behavioral inhibition using candidate loci from mouse models. Abstract

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet. 2000 Oct 12; 9(17):2471-8. View Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Abstract