Publications:

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Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.

Frontiers In Physiology

Vercellati, Cristina C; Marcello, Anna Paola AP; Fattizzo, Bruno B; Zaninoni, Anna A; Seresini, Agostino A; Barcellini, Wilma W; Bianchi, Paola P; Fermo, Elisa E

Publication Date: 2022

Variant appearance in text: SLC4A1: 1462G>A; V488M; rs28931584

PubMed Link: 36035481

Variant Present in the following documents:

• Main text
• fphys-13-949044.pdf

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: SLC4A1: 1462G>A; Val488Met

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.

American Journal Of Physiology. Cell Physiology

Jennings, Michael L ML

Publication Date: 2021-12-01

Variant appearance in text: AE1: V488M

PubMed Link: 34669510

Variant Present in the following documents:

• Main text

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Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis

Iranian Biomedical Journal

Shahab-Movahed, Zahra Z; Majd, Ahmad A; Siasi Torbati, Elham E; Zeinali, Sirous S

Publication Date: 2021-09-01

Variant appearance in text: AE1: V488M

PubMed Link: 34481427

Variant Present in the following documents:

• Main text
• ibj-25-359.pdf

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Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.

Genes

Andolfo, Immacolata I; Martone, Stefania S; Rosato, Barbara Eleni BE; Marra, Roberta R; Gambale, Antonella A; Forni, Gian Luca GL; Pinto, Valeria V; Göransson, Magnus M; Papadopoulou, Vasiliki V; Gavillet, Mathilde M; Elalfy, Mohsen M; Panarelli, Antonella A; Tomaiuolo, Giovanna G; Iolascon, Achille A; Russo, Roberta R

Publication Date: 2021-06-23

Variant appearance in text: SLC4A1: 1462G>A; Val488Met; rs28931584

PubMed Link: 34201899

Variant Present in the following documents:

• Main text
• genes-12-00958.pdf

View BVdb publication page

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Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.

Frontiers In Physiology

Fermo, Elisa E; Vercellati, Cristina C; Marcello, Anna Paola AP; Keskin, Ebru Yilmaz EY; Perrotta, Silverio S; Zaninoni, Anna A; Brancaleoni, Valentina V; Zanella, Alberto A; Giannotta, Juri A JA; Barcellini, Wilma W; Bianchi, Paola P

Publication Date: 2021

Variant appearance in text: SLC4A1: 1462G>A; V488M; rs28931584

PubMed Link: 34093240

Variant Present in the following documents:

• Main text
• fphys-12-684569.pdf

View BVdb publication page

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Exome sequencing for diagnosis of congenital hemolytic anemia.

Orphanet Journal Of Rare Diseases

Mansour-Hendili, Lamisse L; Aissat, Abdelrazak A; Badaoui, Bouchra B; Sakka, Mehdi M; Gameiro, Christine C; Ortonne, Valérie V; Wagner-Ballon, Orianne O; Pissard, Serge S; Picard, Véronique V; Ghazal, Khaldoun K; Bahuau, Michel M; Guitton, Corinne C; Mansour, Ziad Z; Duplan, Mylène M; Petit, Arnaud A; Costedoat-Chalumeau, Nathalie N; Michel, Marc M; Bartolucci, Pablo P; Moutereau, Stéphane S; Funalot, Benoît B; Galactéros, Frédéric F

Publication Date: 2020-07-08

Variant appearance in text: SLC4A1: V488M; rs28931584

PubMed Link: 32641076

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1425.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: SLC4A1: V488M

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.

Pediatric Health, Medicine And Therapeutics

Watanabe, Toru T

Publication Date: 2018

Variant appearance in text: AE1: V488M

PubMed Link: 30588151

Variant Present in the following documents:

• Main text
• phmt-9-181.pdf

View BVdb publication page

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Genomic sequencing identifies secondary findings in a cohort of parent study participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Thompson, Michelle L ML; Finnila, Candice R CR; Bowling, Kevin M KM; Brothers, Kyle B KB; Neu, Matthew B MB; Amaral, Michelle D MD; Hiatt, Susan M SM; East, Kelly M KM; Gray, David E DE; Lawlor, James M J JMJ; Kelley, Whitley V WV; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Levy, Shawn E SE; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM

Publication Date: 2018-12

Variant appearance in text: SLC4A1: V488M

PubMed Link: 29790872

Variant Present in the following documents:

• Main text
• nihms952080.pdf

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A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis.

Blood

Yang, Elizabeth E; Seo-Mayer, Patricia P; Lezon-Geyda, Kimberly K; Badior, Katherine E KE; Li, Jing J; Casey, Joseph R JR; Reithmeier, Reinhart A F RAF; Gallagher, Patrick G PG

Publication Date: 2018-04-12

Variant appearance in text: AE1: V488M

PubMed Link: 29483102

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.

Nature Communications

Chang, Jiang J; Tan, Wenle W; Ling, Zhiqiang Z; Xi, Ruibin R; Shao, Mingming M; Chen, Mengjie M; Luo, Yingying Y; Zhao, Yanjie Y; Liu, Yun Y; Huang, Xiancong X; Xia, Yuchao Y; Hu, Jinlin J; Parker, Joel S JS; Marron, David D; Cui, Qionghua Q; Peng, Linna L; Chu, Jiahui J; Li, Hongmin H; Du, Zhongli Z; Han, Yaling Y; Tan, Wen W; Liu, Zhihua Z; Zhan, Qimin Q; Li, Yun Y; Mao, Weimin W; Wu, Chen C; Lin, Dongxin D

Publication Date: 2017-05-26

Variant appearance in text: SLC4A1: Val488Met

PubMed Link: 28548104

Variant Present in the following documents:

• ncomms15290-s4.xlsx, sheet 1

View BVdb publication page

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: SLC4A1: V488M

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: SLC4A1: 1462G>A; V488M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: SLC4A1: V488M

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: rs28931584

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SLC4A1: V488M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: SLC4A1: V488M

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: SLC4A1: V488M

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells.

Plos One

Chu, Carmen Y S CY; King, Jennifer C JC; Berrini, Mattia M; Alexander, R Todd RT; Cordat, Emmanuelle E

Publication Date: 2013

Variant appearance in text: AE1: V488M

PubMed Link: 23460825

Variant Present in the following documents:

• Main text
• pone.0057062.pdf

View BVdb publication page

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Molecular pathophysiology of renal tubular acidosis.

Current Genomics

Pereira, P C B PC; Miranda, D M DM; Oliveira, E A EA; Silva, A C Simões E AC

Publication Date: 2009-03

Variant appearance in text: AE1: V488M

PubMed Link: 19721811

Variant Present in the following documents:

• Main text

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Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

Journal Of Molecular And Genetic Medicine : An International Journal Of Biomedical Research

Yenchitsomanus, Pa-Thai PT; Kittanakom, Saranya S; Rungroj, Nanyawan N; Cordat, Emmanuelle E; Reithmeier, Reinhart A F RA

Publication Date: 2005-11-16

Variant appearance in text: SLC4A1: V488M

PubMed Link: 19565014

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular physiology and genetics of Na+-independent SLC4 anion exchangers.

The Journal Of Experimental Biology

Alper, Seth L SL

Publication Date: 2009-06

Variant appearance in text: AE1: V488M

PubMed Link: 19448077

Variant Present in the following documents:

• Main text

View BVdb publication page

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Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.

Blood

Toye, Ashley M AM; Williamson, Rosalind C RC; Khanfar, Moudji M; Bader-Meunier, Brigitte B; Cynober, Thérèse T; Thibault, Madeleine M; Tchernia, Gil G; Déchaux, Michèle M; Delaunay, Jean J; Bruce, Lesley J LJ

Publication Date: 2008-06-01

Variant appearance in text: SLC4A1: Val488Met

PubMed Link: 18174378

Variant Present in the following documents:

• Main text

View BVdb publication page

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