Publications:

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: SFTPA2: Q223K; rs1965708

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs1965708

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs1965708

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs1965708

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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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: SFTPA2: Q223K; rs1965708

PubMed Link: 35903101

Variant Present in the following documents:

• Main text
• fimmu-13-922956.pdf

View BVdb publication page

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Small Peptide Derivatives Within the Carbohydrate Recognition Domain of SP-A2 Modulate Asthma Outcomes in Mouse Models and Human Cells.

Frontiers In Immunology

Francisco, Dave D; Wang, Ying Y; Marshall, Craig C; Conway, Michelle M; Addison, Kenneth J KJ; Billheimer, Dean D; Kimura, Hiroki H; Numata, Mari M; Chu, Hong W HW; Voelker, Dennis R DR; Kraft, Monica M; Ledford, Julie G JG

Publication Date: 2022

Variant appearance in text: rs1965708

PubMed Link: 35874703

Variant Present in the following documents:

• Main text
• fimmu-13-900022.pdf

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: rs1965708

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

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: rs1965708

PubMed Link: 35401703

Variant Present in the following documents:

• Main text
• fgene-13-815727.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: SFTPA2: Q223K

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

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: rs1965708

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: rs1965708

PubMed Link: 34484180

Variant Present in the following documents:

• Main text
• fimmu-12-681639.pdf

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: SFTPA2: 667C>A; Gln223Lys; rs1965708

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Association between SP-A rs1965708 gene polymorphism and allergic rhinitis risk in Chinese population.

Journal Of Clinical Laboratory Analysis

Yin, Xinghong X; Wang, Bo B; Yan, Zhiqiang Z; Hu, Lulu L; Zhang, Xinhai X

Publication Date: 2021-07

Variant appearance in text: rs1965708

PubMed Link: 34028080

Variant Present in the following documents:

• Main text
• JCLA-35-e23828.pdf

View BVdb publication page

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Evaluation of Correlations between Genetic Variants and High-Resolution Computed Tomography Patterns in Idiopathic Pulmonary Fibrosis.

Diagnostics (Basel, Switzerland)

Baratella, Elisa E; Ruaro, Barbara B; Giudici, Fabiola F; Wade, Barbara B; Santagiuliana, Mario M; Salton, Francesco F; Confalonieri, Paola P; Simbolo, Michele M; Scarpa, Aldo A; Tollot, Saverio S; Marrocchio, Cristina C; Cova, Maria Assunta MA; Confalonieri, Marco M

Publication Date: 2021-04-23

Variant appearance in text: SFTPA2: Q223K; rs1965708

PubMed Link: 33922858

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: SFTPA2: 667C>A; Q223K; rs1965708

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Genetic variation in surfactant protein-A2 alters responses to ozone.

Plos One

Pederson, William P WP; Cyphert-Daly, Jaime M JM; Tighe, Robert M RM; Que, Loretta G LG; Ledford, Julie G JG

Publication Date: 2021

Variant appearance in text: SP-A2: Q223K; rs1965708

PubMed Link: 33617569

Variant Present in the following documents:

• Main text
• pone.0247504.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: rs1965708

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: rs1965708

PubMed Link: 33077557

Variant Present in the following documents:

• bmjopen-2019-034136.draft_revisions.pdf

View BVdb publication page

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A 20-Mer Peptide Derived from the Lectin Domain of SP-A2 Decreases Tumor Necrosis Factor Alpha Production during Mycoplasma pneumoniae Infection.

Infection And Immunity

Younis, Usir S US; Chu, Hong Wei HW; Kraft, Monica M; Ledford, Julie G JG

Publication Date: 2020-08-19

Variant appearance in text: SP-A2: Gln223Lys

PubMed Link: 32513852

Variant Present in the following documents:

• Main text

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: rs1965708

PubMed Link: 32326132

Variant Present in the following documents:

• Main text
• jcm-09-01183.pdf

View BVdb publication page

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Human genetics of meningococcal infections.

Human Genetics

Hodeib, Stephanie S; Herberg, Jethro A JA; Levin, Michael M; Sancho-Shimizu, Vanessa V

Publication Date: 2020-06

Variant appearance in text: rs1965708

PubMed Link: 32067109

Variant Present in the following documents:

• Main text
• 439_2020_Article_2128.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: SFTPA2: 667C>A; Gln223Lys; rs1965708

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: SFTPA2: Q223K; rs1965708

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Host Single Nucleotide Polymorphisms Modulating Influenza A Virus Disease in Humans.

Pathogens (Basel, Switzerland)

Nogales, Aitor A; L DeDiego, Marta M

Publication Date: 2019-09-30

Variant appearance in text: SFTPA2: Q223K; rs1965708

PubMed Link: 31574965

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host susceptibility to severe influenza A virus infection.

Critical Care (London, England)

Clohisey, Sara S; Baillie, John Kenneth JK

Publication Date: 2019-09-05

Variant appearance in text: rs1965708

PubMed Link: 31488196

Variant Present in the following documents:

• Main text
• 13054_2019_Article_2566.pdf

View BVdb publication page

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Genetic Variation in Surfactant Protein-A2 Delays Resolution of Eosinophilia in Asthma.

Journal Of Immunology (Baltimore, Md. : 1950)

Dy, Alane Blythe C ABC; Arif, Muhammad Z MZ; Addison, Kenneth J KJ; Que, Loretta G LG; Boitano, Scott S; Kraft, Monica M; Ledford, Julie G JG

Publication Date: 2019-09-01

Variant appearance in text: SP-A2: Q223K; rs1965708

PubMed Link: 31350355

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Nature Communications

Takata, Atsushi A; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Mizuguchi, Takeshi T; Mitsuhashi, Satomi S; Takahashi, Yukitoshi Y; Okamoto, Nobuhiko N; Osaka, Hitoshi H; Nakamura, Kazuyuki K; Tohyama, Jun J; Haginoya, Kazuhiro K; Takeshita, Saoko S; Kuki, Ichiro I; Okanishi, Tohru T; Goto, Tomohide T; Sasaki, Masayuki M; Sakai, Yasunari Y; Miyake, Noriko N; Miyatake, Satoko S; Tsuchida, Naomi N; Iwama, Kazuhiro K; Minase, Gaku G; Sekiguchi, Futoshi F; Fujita, Atsushi A; Imagawa, Eri E; Koshimizu, Eriko E; Uchiyama, Yuri Y; Hamanaka, Kohei K; Ohba, Chihiro C; Itai, Toshiyuki T; Aoi, Hiromi H; Saida, Ken K; Sakaguchi, Tomohiro T; Den, Kouhei K; Takahashi, Rina R; Ikeda, Hiroko H; Yamaguchi, Tokito T; Tsukamoto, Kazuki K; Yoshitomi, Shinsaku S; Oboshi, Taikan T; Imai, Katsumi K; Kimizu, Tomokazu T; Kobayashi, Yu Y; Kubota, Masaya M; Kashii, Hirofumi H; Baba, Shimpei S; Iai, Mizue M; Kira, Ryutaro R; Hara, Munetsugu M; Ohta, Masayasu M; Miyata, Yohane Y; Miyata, Rie R; Takanashi, Jun-Ichi JI; Matsui, Jun J; Yokochi, Kenji K; Shimono, Masayuki M; Amamoto, Masano M; Takayama, Rumiko R; Hirabayashi, Shinichi S; Aiba, Kaori K; Matsumoto, Hiroshi H; Nabatame, Shin S; Shiihara, Takashi T; Kato, Mitsuhiro M; Matsumoto, Naomichi N

Publication Date: 2019-06-07

Variant appearance in text: SFTPA2: 667C>A; Gln223Lys

PubMed Link: 31175295

Variant Present in the following documents:

• 41467_2019_10482_MOESM8_ESM.xlsx, sheet 1

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: rs1965708

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Influenza Pathogenesis: The Effect of Host Factors on Severity of Disease.

Journal Of Immunology (Baltimore, Md. : 1950)

Gounder, Anshu P AP; Boon, Adrianus C M ACM

Publication Date: 2019-01-15

Variant appearance in text: rs1965708

PubMed Link: 30617115

Variant Present in the following documents:

• Main text

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: SFTPA2: Q223K; rs1965708

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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: rs1965708

PubMed Link: 30333828

Variant Present in the following documents:

• Main text
• fimmu-09-02256.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: SFTPA2: 667C>A; Q223K; rs1965708

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: SFTPA2: Q223K; rs1965708

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: SFTPA2: Q223K; rs1965708

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1
• srep30457-s2.xls, sheet 2

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: SFTPA2: Q223K

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Host genetics of severe influenza: from mouse Mx1 to human IRF7.

Current Opinion In Immunology

Ciancanelli, Michael J MJ; Abel, Laurent L; Zhang, Shen-Ying SY; Casanova, Jean-Laurent JL

Publication Date: 2016-02

Variant appearance in text: rs1965708

PubMed Link: 26761402

Variant Present in the following documents:

• Main text

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: rs1965708

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Host genes and influenza pathogenesis in humans: an emerging paradigm.

Current Opinion In Virology

To, Kelvin Kai-Wang KK; Zhou, Jie J; Chan, Jasper Fuk-Woo JF; Yuen, Kwok-Yung KY

Publication Date: 2015-10

Variant appearance in text: rs1965708

PubMed Link: 26079652

Variant Present in the following documents:

• Main text

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: SFTPA2: Q223K; rs1965708

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 7
• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 3
• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 1

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: rs1965708

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.

Bmj Open Respiratory Research

Coghlan, Meghan A MA; Shifren, Adrian A; Huang, Howard J HJ; Russell, Tonya D TD; Mitra, Robi D RD; Zhang, Qunyuan Q; Wegner, Daniel J DJ; Cole, F Sessions FS; Hamvas, Aaron A

Publication Date: 2014

Variant appearance in text: SFTPA2: Q223K

PubMed Link: 25553246

Variant Present in the following documents:

• Main text
• bmjresp-2014-000057.pdf

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: SFTPA2: Q223K

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: SFTPA2: Q223K; rs1965708

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SFTPA2: Q223K; rs1965708

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: SFTPA2: Q223K

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3
• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3

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Severe respiratory insufficiency during pandemic H1N1 infection: prognostic value and therapeutic potential of pulmonary surfactant protein A.

Critical Care (London, England)

Tolosa, Monica Fern MF; Palaniyar, Nades N

Publication Date: 2014-08-07

Variant appearance in text: SFTPA2: Q223K; rs1965708

PubMed Link: 25184962

Variant Present in the following documents:

• Main text

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Identification and Quantitation of Coding Variants and Isoforms of Pulmonary Surfactant Protein A.

Journal Of Proteome Research

Foster, Matthew W MW; Thompson, J Will JW; Ledford, Julie G JG; Dubois, Laura G LG; Hollingsworth, John W JW; Francisco, Dave D; Tanyaratsrisakul, Sasipa S; Voelker, Dennis R DR; Kraft, Monica M; Moseley, M Arthur MA; Foster, W Michael WM

Publication Date: 2014-08-01

Variant appearance in text: rs1965708

PubMed Link: 25025725

Variant Present in the following documents:

• Main text

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Surfactant protein A genetic variants associate with severe respiratory insufficiency in pandemic influenza A virus infection.

Critical Care (London, England)

Herrera-Ramos, Estefanía E; López-Rodríguez, Marta M; Ruíz-Hernández, José Juan JJ; Horcajada, Juan Pablo JP; Borderías, Luis L; Lerma, Elisabeth E; Blanquer, José J; Pérez-González, María Carmen MC; García-Laorden, María Isabel MI; Florido, Yanira Y; Mas-Bosch, Virginia V; Montero, Milagro M; Ferrer, José María JM; Sorlí, Luisa L; Vilaplana, Carlos C; Rajas, Olga O; Briones, Marisa M; Aspa, Javier J; López-Granados, Eduardo E; Solé-Violán, Jordi J; de Castro, Felipe Rodríguez FR; Rodríguez-Gallego, Carlos C

Publication Date: 2014-06-20

Variant appearance in text: SFTPA2: Q223K; rs1965708

PubMed Link: 24950659

Variant Present in the following documents:

• Main text
• cc13934.pdf

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Poor reproducibility of allergic rhinitis SNP associations.

Plos One

Nilsson, Daniel D; Andiappan, Anand Kumar AK; Halldén, Christer C; Tim, Chew Fook CF; Säll, Torbjörn T; Wang, De Yun de Y; Cardell, Lars-Olaf LO

Publication Date: 2013

Variant appearance in text: rs1965708

PubMed Link: 23382861

Variant Present in the following documents:

• pone.0053975.s001.xls, sheet 1

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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: rs1965708

PubMed Link: 23328842

Variant Present in the following documents:

• Main text

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Mutant surfactant A2 proteins associated with familial pulmonary fibrosis and lung cancer induce TGF-β1 secretion.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Maitra, Meenakshi M; Cano, Christopher A CA; Garcia, Christine Kim CK

Publication Date: 2012-12-18

Variant appearance in text: SP-A2: Q223K

PubMed Link: 23223528

Variant Present in the following documents:

• Main text

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Human surfactant protein A2 gene mutations impair dimmer/trimer assembly leading to deficiency in protein sialylation and secretion.

Plos One

Song, Yi Y; Fang, Guodong G; Shen, Haitao H; Li, Hui H; Yang, Wenbing W; Pan, Bing B; Huang, Guowei G; Lin, Guangyu G; Ma, Lian L; Willard, Belinda B; Gu, Jiang J; Zheng, Lemin L; Wang, Yongyu Y

Publication Date: 2012

Variant appearance in text: SP-A2: Q223K

PubMed Link: 23056344

Variant Present in the following documents:

• Main text

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A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.

Respiratory Research

Fernandez, Bridget A BA; Fox, George G; Bhatia, Rick R; Sala, Eric E; Noble, Barbara B; Denic, Nash N; Fernandez, Dzintra D; Duguid, Nigel N; Dohey, Amanda A; Kamel, Fady F; Edwards, Laura L; Mahoney, Krista K; Stuckless, Susan S; Parfrey, Patrick S PS; Woods, Michael O MO

Publication Date: 2012-08-01

Variant appearance in text: rs1965708

PubMed Link: 22853774

Variant Present in the following documents:

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