Publications:

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Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.

Cureus

Al-Blushi, Sania S; Bantan, Najwa Abdalkabeer A NAA; Al-Abdullatif, Saad S; Taher, Mohiuddin M MM

Publication Date: 2022-12

Variant appearance in text: SLC2A10: 1334delG; Gly445GlufsX40; rs587776600

PubMed Link: 36578839

Variant Present in the following documents:

• Main text
• cureus-0014-00000032899.pdf

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: SLC2A10: 1333delG; rs587776600

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report.

Bmc Neurology

Cotti Piccinelli, Stefano S; Premi, Enrico E; Bonacina, Sonia S; Gilberti, Nicola N; Vergani, Veronica V; Gamba, Massimo M; Spezi, Raffaella R; Delrio, Ilenia I; Bernier, Michaël M; Costa, Angelo A; Ravanelli, Marco M; Colombi, Marina M; Gasparotti, Roberto R; Padovani, Alessandro A; Magoni, Mauro M

Publication Date: 2021-11-30

Variant appearance in text: SLC2A10: 1334delG

PubMed Link: 34847858

Variant Present in the following documents:

• Main text
• 12883_2021_Article_2458.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SLC2A10: 1334delG; Gly445fs; rs587776600

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.

International Journal Of Molecular Sciences

Gamberucci, Alessandra A; Marcolongo, Paola P; Németh, Csilla E CE; Zoppi, Nicoletta N; Szarka, András A; Chiarelli, Nicola N; Hegedűs, Tamás T; Ritelli, Marco M; Carini, Giulia G; Willaert, Andy A; Callewaert, Bert L BL; Coucke, Paul J PJ; Benedetti, Angiolo A; Margittai, Éva É; Fulceri, Rosella R; Bánhegyi, Gábor G; Colombi, Marina M

Publication Date: 2017-08-22

Variant appearance in text: SLC2A10: 1334delG

PubMed Link: 28829359

Variant Present in the following documents:

• Main text
• ijms-18-01820.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SLC2A10: 1334delG; Gly445Glufs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: SLC2A10: 1333delG; G445fs*40

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.

Human Molecular Genetics

Zoppi, Nicoletta N; Chiarelli, Nicola N; Cinquina, Valeria V; Ritelli, Marco M; Colombi, Marina M

Publication Date: 2015-12-01

Variant appearance in text: SLC2A10: 1334del; Gly445Glufs*40

PubMed Link: 26376865

Variant Present in the following documents:

• Main text
• ddv382.pdf

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Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Bmc Medical Genetics

Ritelli, Marco M; Chiarelli, Nicola N; Dordoni, Chiara C; Reffo, Elena E; Venturini, Marina M; Quinzani, Stefano S; Monica, Matteo Della MD; Scarano, Gioacchino G; Santoro, Giuseppe G; Russo, Maria Giovanna MG; Calzavara-Pinton, Piergiacomo P; Milanesi, Ornella O; Colombi, Marina M

Publication Date: 2014-11-06

Variant appearance in text: SLC2A10: 1334delG; Gly445Glufs*40

PubMed Link: 25373504

Variant Present in the following documents:

View BVdb publication page

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Arterial tortuosity syndrome in two Italian paediatric patients.

Orphanet Journal Of Rare Diseases

Ritelli, Marco M; Drera, Bruno B; Vicchio, Mariano M; Puppini, Giovanni G; Biban, Paolo P; Pilati, Mara M; Prioli, Maria Antonia MA; Barlati, Sergio S; Colombi, Marina M

Publication Date: 2009-09-25

Variant appearance in text: SLC2A10: 1334delG

PubMed Link: 19781076

Variant Present in the following documents:

• Main text
• 1750-1172-4-20.pdf

View BVdb publication page

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