Publications:

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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.

Annals Of Clinical And Translational Neurology

Pujol-Giménez, Jonai J; Mirzaa, Ghayda G; Blue, Elizabeth E EE; Albano, Giuseppe G; Miller, Danny E DE; Allworth, Aimee A; Bennett, James T JT; Byers, Peter H PH; Chanprasert, Sirisak S; Chen, Jingheng J; Doherty, Daniel D; Folta, Andrew B AB; Gillentine, Madelyn A MA; Glass, Ian I; Hing, Anne A; Horike-Pyne, Martha M; Leppig, Kathleen A KA; Parhin, Azma A; Ranchalis, Jane J; Raskind, Wendy H WH; Rosenthal, Elisabeth A EA; Schwarze, Ulrike U; Sheppeard, Sam S; Strohbehn, Samuel S; Sybert, Virginia P VP; Timms, Andrew A; Wener, Mark M; , ; Bamshad, Michael J MJ; Hisama, Fuki M FM; Jarvik, Gail P GP; Dipple, Katrina M KM; Hediger, Matthias A MA; Stergachis, Andrew B AB

Publication Date: 2023-05-16

Variant appearance in text: SLC1A4: E256K

PubMed Link: 37194416

Variant Present in the following documents:

• Main text
• ACN3-10-1046.pdf

View BVdb publication page

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Generation and characterization of a knock-in mouse model for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM).

Research Square

Ratz, Megan L ML; Leary, Greg G; Grindeland, Andrea A; Silvius, Derek D; Guter, Joseph J; Kavanaugh, Michael P MP; Gunn, Teresa M TM

Publication Date: 2023-04-24

Variant appearance in text: SLC1A4: E256K

PubMed Link: 37162879

Variant Present in the following documents:

• nihpp-rs2839029v1.pdf

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Precision information extraction for rare disease epidemiology at scale.

Journal Of Translational Medicine

Kariampuzha, William Z WZ; Alyea, Gioconda G; Qu, Sue S; Sanjak, Jaleal J; Mathé, Ewy E; Sid, Eric E; Chatelaine, Haley H; Yadaw, Arjun A; Xu, Yanji Y; Zhu, Qian Q

Publication Date: 2023-02-28

Variant appearance in text: ASCT1: 766G>A

PubMed Link: 36855134

Variant Present in the following documents:

• 12967_2023_4011_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SLC1A4: E256K; rs201278558

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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A structural view onto disease-linked mutations in the human neutral amino acid exchanger ASCT1.

Computational And Structural Biotechnology Journal

Stehantsev, Pavlo P; Stetsenko, Artem A; Nemchinova, Mariia M; Aduri, Nanda Gowtham NG; Marrink, Siewert J SJ; Gati, Cornelius C; Guskov, Albert A

Publication Date: 2021

Variant appearance in text: ASCT1: E256K

PubMed Link: 34630942

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: SLC1A4: E256K

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.

Pharmacology & Therapeutics

Bhat, Shreyas S; El-Kasaby, Ali A; Freissmuth, Michael M; Sucic, Sonja S

Publication Date: 2021-06

Variant appearance in text: ASCT1: E256K

PubMed Link: 33310157

Variant Present in the following documents:

• Main text
• EMS142927.pdf

View BVdb publication page

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Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Cell Reports

Xie, Shaozhen S; Ni, Jing J; McFaline-Figueroa, J Ricardo JR; Wang, Yanzhi Y; Bronson, Roderick T RT; Ligon, Keith L KL; Wen, Patrick Y PY; Roberts, Thomas M TM; Zhao, Jean J JJ

Publication Date: 2020-09-29

Variant appearance in text: SLC1A4: E256K

PubMed Link: 32997991

Variant Present in the following documents:

• NIHMS1633676-supplement-2.xlsx, sheet 1

View BVdb publication page

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A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder.

Child Neurology Open

Abdelrahman, Hanadi A HA; Al-Shamsi, Aisha A; John, Anne A; Ali, Bassam R BR; Al-Gazali, Lihadh L

Publication Date: 2019

Variant appearance in text: ASCT1: E256K

PubMed Link: 31763347

Variant Present in the following documents:

• Main text
• 10.1177_2329048X19880647.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SLC1A4: 766G>A; Glu256Lys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Systematic reanalysis of genomic data improves quality of variant interpretation.

Clinical Genetics

Hiatt, S M SM; Amaral, M D MD; Bowling, K M KM; Finnila, C R CR; Thompson, M L ML; Gray, D E DE; Lawlor, J M J JMJ; Cochran, J N JN; Bebin, E M EM; Brothers, K B KB; East, K M KM; Kelley, W V WV; Lamb, N E NE; Levy, S E SE; Lose, E J EJ; Neu, M B MB; Rich, C A CA; Simmons, S S; Myers, R M RM; Barsh, G S GS; Cooper, G M GM

Publication Date: 2018-07

Variant appearance in text: SLC1A4: 766G>A; Glu256Lys

PubMed Link: 29652076

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: SLC1A4: E256K; rs201278558

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: SLC1A4: E256K

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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A new tool for prioritization of sequence variants from whole exome sequencing data.

Source Code For Biology And Medicine

Glanzmann, Brigitte B; Herbst, Hendri H; Kinnear, Craig J CJ; Möller, Marlo M; Gamieldien, Junaid J; Bardien, Soraya S

Publication Date: 2016

Variant appearance in text: SLC1A4: E256K

PubMed Link: 27375772

Variant Present in the following documents:

• Main text

View BVdb publication page

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D-Serine Is a Substrate for Neutral Amino Acid Transporters ASCT1/SLC1A4 and ASCT2/SLC1A5, and Is Transported by Both Subtypes in Rat Hippocampal Astrocyte Cultures.

Plos One

Foster, Alan C AC; Farnsworth, Jill J; Lind, Genevieve E GE; Li, Yong-Xin YX; Yang, Jia-Ying JY; Dang, Van V; Penjwini, Mahmud M; Viswanath, Veena V; Staubli, Ursula U; Kavanaugh, Michael P MP

Publication Date: 2016

Variant appearance in text: ASCT1: E256K

PubMed Link: 27272177

Variant Present in the following documents:

• Main text
• pone.0156551.pdf

View BVdb publication page

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The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.

Molecular Cytogenetics

Fonseca, Ana Carolina S AC; Bonaldi, Adriano A; Fonseca, Simone A S SA; Otto, Paulo A PA; Kok, Fernando F; Bak, Mads M; Tommerup, Niels N; Vianna-Morgante, Angela M AM

Publication Date: 2015

Variant appearance in text: SLC1A4: E256K

PubMed Link: 26719771

Variant Present in the following documents:

• Main text
• 13039_2015_Article_205.pdf

View BVdb publication page

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Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

Nature Communications

Ma, Xiaotu X; Edmonson, Michael M; Yergeau, Donald D; Muzny, Donna M DM; Hampton, Oliver A OA; Rusch, Michael M; Song, Guangchun G; Easton, John J; Harvey, Richard C RC; Wheeler, David A DA; Ma, Jing J; Doddapaneni, HarshaVardhan H; Vadodaria, Bhavin B; Wu, Gang G; Nagahawatte, Panduka P; Carroll, William L WL; Chen, I-Ming IM; Gastier-Foster, Julie M JM; Relling, Mary V MV; Smith, Malcolm A MA; Devidas, Meenakshi M; Guidry Auvil, Jaime M JM; Downing, James R JR; Loh, Mignon L ML; Willman, Cheryl L CL; Gerhard, Daniela S DS; Mullighan, Charles G CG; Hunger, Stephen P SP; Zhang, Jinghui J

Publication Date: 2015-03-19

Variant appearance in text: SLC1A4: E256K

PubMed Link: 25790293

Variant Present in the following documents:

• ncomms7604-s3.xls, sheet 1

View BVdb publication page

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