Publications:

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Hydrophilic But Not Hydrophobic Surfactant Protein Genetic Variants Are Associated With Severe Acute Respiratory Syncytial Virus Infection in Children.

Frontiers In Immunology

Depicolzuane, Lynnlee C LC; Roberts, Catherine M CM; Thomas, Neal J NJ; Anderson-Fears, Keenan K; Liu, Dajiang D; Barbosa, João Paulo Pereira JPP; Souza, Felipe Rodrigues FR; Pimentel, André Silva AS; Floros, Joanna J; Gandhi, Chintan K CK

Publication Date: 2022

Variant appearance in text: rs4253527

PubMed Link: 35903101

Variant Present in the following documents:

• Main text
• fimmu-13-922956.pdf

View BVdb publication page

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SNP-SNP Interactions of Surfactant Protein Genes in Persistent Respiratory Morbidity Susceptibility in Previously Healthy Children.

Frontiers In Genetics

Gandhi, Chintan K CK; Thomas, Neal J NJ; Meixia, Ye Y; Spear, Debbie D; Fu, Chenqi C; Zhou, Shouhao S; Wu, Rongling R; Keim, Garrett G; Yehya, Nadir N; Floros, Joanna J

Publication Date: 2022

Variant appearance in text: rs4253527

PubMed Link: 35401703

Variant Present in the following documents:

• Main text
• fgene-13-815727.pdf

View BVdb publication page

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Single Nucleotide Polymorphisms Interactions of the Surfactant Protein Genes Associated With Respiratory Distress Syndrome Susceptibility in Preterm Infants.

Frontiers In Pediatrics

Amatya, Shaili S; Ye, Meixia M; Yang, Lili L; Gandhi, Chintan K CK; Wu, Rongling R; Nagourney, Beth B; Floros, Joanna J

Publication Date: 2021

Variant appearance in text: rs4253527

PubMed Link: 34671583

Variant Present in the following documents:

• Main text
• fped-09-682160.pdf

View BVdb publication page

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Human Surfactant Protein SP-A1 and SP-A2 Variants Differentially Affect the Alveolar Microenvironment, Surfactant Structure, Regulation and Function of the Alveolar Macrophage, and Animal and Human Survival Under Various Conditions.

Frontiers In Immunology

Floros, Joanna J; Thorenoor, Nithyananda N; Tsotakos, Nikolaos N; Phelps, David S DS

Publication Date: 2021

Variant appearance in text: rs4253527

PubMed Link: 34484180

Variant Present in the following documents:

• Main text
• fimmu-12-681639.pdf

View BVdb publication page

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SNP and Haplotype Interaction Models Reveal Association of Surfactant Protein Gene Polymorphisms With Hypersensitivity Pneumonitis of Mexican Population.

Frontiers In Medicine

Gandhi, Chintan K CK; Chen, Chixiang C; Amatya, Shaili S; Yang, Lili L; Fu, Chenqi C; Zhou, Shouhao S; Wu, Rongling R; Buendía-Roldan, Ivette I; Selman, Moisés M; Pardo, Annie A; Floros, Joanna J

Publication Date: 2020

Variant appearance in text: rs4253527

PubMed Link: 33469544

Variant Present in the following documents:

• Main text
• fmed-07-588404.pdf

View BVdb publication page

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Exposure to traffic-related particle matter and effects on lung function and potential interactions in a cross-sectional analysis of a cohort study in west Sweden.

Bmj Open

Carlsen, Hanne Krage HK; Nyberg, Fredrik F; Torén, Kjell K; Segersson, David D; Olin, Anna-Carin AC

Publication Date: 2020-10-19

Variant appearance in text: rs4253527

PubMed Link: 33077557

Variant Present in the following documents:

• Main text
• bmjopen-2019-034136.draft_revisions.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: SFTPA1: R219R

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Association of SNP-SNP Interactions of Surfactant Protein Genes with Pediatric Acute Respiratory Failure.

Journal Of Clinical Medicine

Gandhi, Chintan K CK; Chen, Chixiang C; Wu, Rongling R; Yang, Lili L; Thorenoor, Nithyananda N; Thomas, Neal J NJ; DiAngelo, Susan L SL; Spear, Debbie D; Keim, Garrett G; Yehya, Nadir N; Floros, Joanna J

Publication Date: 2020-04-20

Variant appearance in text: rs4253527

PubMed Link: 32326132

Variant Present in the following documents:

• Main text
• jcm-09-01183.pdf

View BVdb publication page

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Host genetic variability and pneumococcal disease: a systematic review and meta-analysis.

Bmc Medical Genomics

Kloek, Anne T AT; Brouwer, Matthijs C MC; van de Beek, Diederik D

Publication Date: 2019-09-13

Variant appearance in text: rs4253527

PubMed Link: 31519222

Variant Present in the following documents:

• Main text

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs4253527

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs4253527

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic Association of Pulmonary Surfactant Protein Genes, SFTPA1, SFTPA2, SFTPB, SFTPC, and SFTPD With Cystic Fibrosis.

Frontiers In Immunology

Lin, Zhenwu Z; Thorenoor, Nithyananda N; Wu, Rongling R; DiAngelo, Susan L SL; Ye, Meixia M; Thomas, Neal J NJ; Liao, Xiaojie X; Lin, Tony R TR; Warren, Stuart S; Floros, Joanna J

Publication Date: 2018

Variant appearance in text: rs4253527

PubMed Link: 30333828

Variant Present in the following documents:

• Main text
• fimmu-09-02256.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs4253527

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs4253527

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs4253527

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1
• pone.0123569.s008.xls, sheet 7
• pone.0123569.s008.xls, sheet 3

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs4253527

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Epithelial SCAP/INSIG/SREBP signaling regulates multiple biological processes during perinatal lung maturation.

Plos One

Bridges, James P JP; Schehr, Angelica A; Wang, Yanhua Y; Huo, Liya L; Besnard, Valérie V; Ikegami, Machiko M; Whitsett, Jeffrey A JA; Xu, Yan Y

Publication Date: 2014

Variant appearance in text: rs4253527

PubMed Link: 24806461

Variant Present in the following documents:

• pone.0091376.pdf

View BVdb publication page

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Allelic mRNA expression imbalance in C-type lectins reveals a frequent regulatory SNP in the human surfactant protein A (SP-A) gene.

Genes And Immunity

Azad, A K AK; Curtis, A A; Papp, A A; Webb, A A; Knoell, D D; Sadee, W W; Schlesinger, L S LS

Publication Date: 2013-03

Variant appearance in text: rs4253527

PubMed Link: 23328842

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variant associations of human SP-A and SP-D with acute and chronic lung injury.

Frontiers In Bioscience (Landmark Edition)

Silveyra, Patricia P; Floros, Joanna J

Publication Date: 2012-01-01

Variant appearance in text: rs4253527

PubMed Link: 22201752

Variant Present in the following documents:

• Main text

View BVdb publication page

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Influence of genetic variability at the surfactant proteins A and D in community-acquired pneumonia: a prospective, observational, genetic study.

Critical Care (London, England)

García-Laorden, M Isabel MI; Rodríguez de Castro, Felipe F; Solé-Violán, Jordi J; Rajas, Olga O; Blanquer, José J; Borderías, Luis L; Aspa, Javier J; Briones, M Luisa ML; Saavedra, Pedro P; Marcos-Ramos, J Alberto JA; González-Quevedo, Nereida N; Sologuren, Ithaisa I; Herrera-Ramos, Estefanía E; Ferrer, José M JM; Rello, Jordi J; Rodríguez-Gallego, Carlos C

Publication Date: 2011

Variant appearance in text: rs4253527

PubMed Link: 21310059

Variant Present in the following documents:

• Main text
• cc10030.pdf

View BVdb publication page

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Respiratory symptoms among infants at risk for asthma: association with surfactant protein A haplotypes.

Bmc Medical Genetics

Pettigrew, Melinda M MM; Gent, Janneane F JF; Zhu, Yong Y; Triche, Elizabeth W EW; Belanger, Kathleen D KD; Holford, Theodore R TR; Bracken, Michael B MB; Leaderer, Brian P BP

Publication Date: 2007-04-02

Variant appearance in text: rs4253527

PubMed Link: 17407567

Variant Present in the following documents:

• Main text
• 1471-2350-8-15.pdf

View BVdb publication page

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