Publications:

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GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Bmc Genomics

Gabbert, Carolin C; Schaake, Susen S; Lüth, Theresa T; Much, Christoph C; Klein, Christine C; Aasly, Jan O JO; Farrer, Matthew J MJ; Trinh, Joanne J

Publication Date: 2023-06-13

Variant appearance in text: 225: S196P

PubMed Link: 37312046

Variant Present in the following documents:

• 12864_2023_9417_MOESM1_ESM.pdf

View BVdb publication page

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A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry

Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG

Publication Date: 2020-11-25

Variant appearance in text: 225: 586T>C

PubMed Link: 33180487

Variant Present in the following documents:

• jm0c01482_si_002.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: 225: 586T>C

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Phylogenetic and mutational analyses of human LEUTX, a homeobox gene implicated in embryogenesis.

Scientific Reports

Katayama, Shintaro S; Ranga, Vipin V; Jouhilahti, Eeva-Mari EM; Airenne, Tomi T TT; Johnson, Mark S MS; Mukherjee, Krishanu K; Bürglin, Thomas R TR; Kere, Juha J

Publication Date: 2018-11-27

Variant appearance in text: 225: 586T>C

PubMed Link: 30479355

Variant Present in the following documents:

• 41598_2018_35547_MOESM1_ESM.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: 225: 586T>C

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Identification and analysis of mutational hotspots in oncogenes and tumour suppressors.

Oncotarget

Baeissa, Hanadi H; Benstead-Hume, Graeme G; Richardson, Christopher J CJ; Pearl, Frances M G FMG

Publication Date: 2017-03-28

Variant appearance in text: 225: S196P

PubMed Link: 28423505

Variant Present in the following documents:

• oncotarget-08-21290-s007.xlsx, sheet 1

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 586T>C

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society

Mata, Ignacio F IF; Leverenz, James B JB; Weintraub, Daniel D; Trojanowski, John Q JQ; Chen-Plotkin, Alice A; Van Deerlin, Vivianna M VM; Ritz, Beate B; Rausch, Rebecca R; Factor, Stewart A SA; Wood-Siverio, Cathy C; Quinn, Joseph F JF; Chung, Kathryn A KA; Peterson-Hiller, Amie L AL; Goldman, Jennifer G JG; Stebbins, Glenn T GT; Bernard, Bryan B; Espay, Alberto J AJ; Revilla, Fredy J FJ; Devoto, Johnna J; Rosenthal, Liana S LS; Dawson, Ted M TM; Albert, Marilyn S MS; Tsuang, Debby D; Huston, Haley H; Yearout, Dora D; Hu, Shu-Ching SC; Cholerton, Brenna A BA; Montine, Thomas J TJ; Edwards, Karen L KL; Zabetian, Cyrus P CP

Publication Date: 2016-01

Variant appearance in text: 225: S196P

PubMed Link: 26296077

Variant Present in the following documents:

• Main text

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: 225: S196P

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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