Publications:

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MAPping tubulin mutations.

Frontiers In Cell And Developmental Biology

Cushion, Thomas D TD; Leca, Ines I; Keays, David A DA

Publication Date: 2023

Variant appearance in text: TUBA1A: P263T

PubMed Link: 36875768

Variant Present in the following documents:

• Main text
• fcell-11-1136699.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TUBA1A: 787C>A; Pro263Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation.

Frontiers In Cellular Neuroscience

Hoff, Katelyn J KJ; Neumann, Andrew J AJ; Moore, Jeffrey K JK

Publication Date: 2022

Variant appearance in text: TUBA1A: P263T

PubMed Link: 36406756

Variant Present in the following documents:

• Main text
• fncel-16-1023267.pdf

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: TUBA1A: 787C>A; Pro263Thr

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg

Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S

Publication Date: 2022-03

Variant appearance in text: TUBA1A: 787C>A; Pro263Thr

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet Journal Of Rare Diseases

Hebebrand, Moritz M; Hüffmeier, Ulrike U; Trollmann, Regina R; Hehr, Ute U; Uebe, Steffen S; Ekici, Arif B AB; Kraus, Cornelia C; Krumbiegel, Mandy M; Reis, André A; Thiel, Christian T CT; Popp, Bernt B

Publication Date: 2019-02-11

Variant appearance in text: TUBA3: 787C>A

PubMed Link: 30744660

Variant Present in the following documents:

• 13023_2019_1020_MOESM2_ESM.xlsx, sheet 2
• 13023_2019_1020_MOESM2_ESM.xlsx, sheet 5

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: rs137853046

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

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The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.

Journal Of Developmental Biology

Aiken, Jayne J; Buscaglia, Georgia G; Bates, Emily A EA; Moore, Jeffrey K JK

Publication Date: 2017-09

Variant appearance in text: TUBA1A: P263T

PubMed Link: 29057214

Variant Present in the following documents:

• Main text
• jdb-05-00008.pdf

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The cytoskeletal arrangements necessary to neurogenesis.

Oncotarget

Compagnucci, Claudia C; Piemonte, Fiorella F; Sferra, Antonella A; Piermarini, Emanuela E; Bertini, Enrico E

Publication Date: 2016-04-12

Variant appearance in text: TUBA1A: 787C>A; P263T

PubMed Link: 26760504

Variant Present in the following documents:

• oncotarget-07-19414-s001.pdf

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: rs137853046

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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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: TUBA1A: P263T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Acta Neuropathologica Communications

Fallet-Bianco, Catherine C; Laquerrière, Annie A; Poirier, Karine K; Razavi, Ferechte F; Guimiot, Fabien F; Dias, Patricia P; Loeuillet, Laurence L; Lascelles, Karine K; Beldjord, Cherif C; Carion, Nathalie N; Toussaint, Aurélie A; Revencu, Nicole N; Addor, Marie-Claude MC; Lhermitte, Benoit B; Gonzales, Marie M; Martinovich, Jelena J; Bessieres, Bettina B; Marcy-Bonnière, Maryse M; Jossic, Frédérique F; Marcorelles, Pascale P; Loget, Philippe P; Chelly, Jamel J; Bahi-Buisson, Nadia N

Publication Date: 2014-07-25

Variant appearance in text: TUBA1A: 787C>A; P263T

PubMed Link: 25059107

Variant Present in the following documents:

• Main text
• 40478_2014_Article_152.pdf

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Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.

Human Molecular Genetics

Tian, Guoling G; Jaglin, Xavier H XH; Keays, David A DA; Francis, Fiona F; Chelly, Jamel J; Cowan, Nicholas J NJ

Publication Date: 2010-09-15

Variant appearance in text: TUBA1A: P263T

PubMed Link: 20603323

Variant Present in the following documents:

• Main text

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TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

Human Molecular Genetics

Kumar, Ravinesh A RA; Pilz, Daniela T DT; Babatz, Timothy D TD; Cushion, Thomas D TD; Harvey, Kirsten K; Topf, Maya M; Yates, Laura L; Robb, Stephanie S; Uyanik, Gökhan G; Mancini, Gracia M S GM; Rees, Mark I MI; Harvey, Robert J RJ; Dobyns, William B WB

Publication Date: 2010-07-15

Variant appearance in text: TUBA1A: P263T

PubMed Link: 20466733

Variant Present in the following documents:

• Main text
• ddq182.pdf

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