Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: TG: 436A>G

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: TG: 436A>G

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TG: M146V; rs1443752235

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: TG: 436A>G

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

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Excessive/Aberrant and Maladaptive Synaptic Plasticity: A Hypothesis for the Pathogenesis of Alzheimer's Disease.

Frontiers In Aging Neuroscience

Kawabata, Shigeki S

Publication Date: 2022

Variant appearance in text: TG: M146V

PubMed Link: 35865745

Variant Present in the following documents:

• Main text
• fnagi-14-913693.pdf

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: TG: 436A>G; M146V

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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Cellular and genetic drivers of RNA editing variation in the human brain.

Nature Communications

Cuddleston, Winston H WH; Li, Junhao J; Fan, Xuanjia X; Kozenkov, Alexey A; Lalli, Matthew M; Khalique, Shahrukh S; Dracheva, Stella S; Mukamel, Eran A EA; Breen, Michael S MS

Publication Date: 2022-05-30

Variant appearance in text: TG: 436A>G

PubMed Link: 35637184

Variant Present in the following documents:

• 41467_2022_30531_MOESM5_ESM.xlsx, sheet 3

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Emerging Electroencephalographic Biomarkers to Improve Preclinical to Clinical Translation in Alzheimer's Disease.

Frontiers In Aging Neuroscience

Cope, Zackary A ZA; Murai, Takeshi T; Sukoff Rizzo, Stacey J SJ

Publication Date: 2022

Variant appearance in text: TG: M146V

PubMed Link: 35250541

Variant Present in the following documents:

• Main text
• fnagi-14-805063.pdf

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HDAC2 Facilitates Pancreatic Cancer Metastasis.

Cancer Research

Krauß, Lukas L; Urban, Bettina C BC; Hastreiter, Sieglinde S; Schneider, Carolin C; Wenzel, Patrick P; Hassan, Zonera Z; Wirth, Matthias M; Lankes, Katharina K; Terrasi, Andrea A; Klement, Christine C; Cernilogar, Filippo M FM; Öllinger, Rupert R; de Andrade Krätzig, Niklas N; Engleitner, Thomas T; Schmid, Roland M RM; Steiger, Katja K; Rad, Roland R; Krämer, Oliver H OH; Reichert, Maximilian M; Schotta, Gunnar G; Saur, Dieter D; Schneider, Günter G

Publication Date: 2022-02-15

Variant appearance in text: TG: 436A>G

PubMed Link: 34903606

Variant Present in the following documents:

• can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2

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Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports

Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T

Publication Date: 2021-11-08

Variant appearance in text: TG: 436A>G

PubMed Link: 34750398

Variant Present in the following documents:

• 41598_2021_987_MOESM1_ESM.xlsx, sheet 2

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TSPO imaging in animal models of brain diseases.

European Journal Of Nuclear Medicine And Molecular Imaging

Van Camp, Nadja N; Lavisse, Sonia S; Roost, Pauline P; Gubinelli, Francesco F; Hillmer, Ansel A; Boutin, Hervé H

Publication Date: 2021-07-10

Variant appearance in text: TG: M146V

PubMed Link: 34245328

Variant Present in the following documents:

• Main text

View BVdb publication page

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TSPO imaging in animal models of brain diseases.

European Journal Of Nuclear Medicine And Molecular Imaging

Van Camp, Nadja N; Lavisse, Sonia S; Roost, Pauline P; Gubinelli, Francesco F; Hillmer, Ansel A; Boutin, Hervé H

Publication Date: 2021-12

Variant appearance in text: TG: M146V

PubMed Link: 34245328

Variant Present in the following documents:

• Main text

View BVdb publication page

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lncRNA-Associated Competitive Endogenous RNA Regulatory Network in an Aβ25-35-Induced AD Mouse Model Treated with Tripterygium Glycoside.

Neuropsychiatric Disease And Treatment

Tang, Liang L; Xiang, Qin Q; Xiang, Ju J; Li, Jianming J

Publication Date: 2021

Variant appearance in text: TG: M146V

PubMed Link: 34040378

Variant Present in the following documents:

• Main text
• ndt-17-1531.pdf

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PET Imaging of Neutrophils Infiltration in Alzheimer's Disease Transgenic Mice.

Frontiers In Neurology

Kong, Yanyan Y; Liu, Kawai K; Hua, Tao T; Zhang, Chencheng C; Sun, Bomin B; Guan, Yihui Y

Publication Date: 2020

Variant appearance in text: TG: M146V

PubMed Link: 33362678

Variant Present in the following documents:

• Main text
• fneur-11-523798.pdf

View BVdb publication page

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Store-operated calcium entry: Pivotal roles in renal physiology and pathophysiology.

Experimental Biology And Medicine (Maywood, N.J.)

Chaudhari, Sarika S; Mallet, Robert T RT; Shotorbani, Parisa Y PY; Tao, Yu Y; Ma, Rong R

Publication Date: 2021-02

Variant appearance in text: TG: M146V

PubMed Link: 33249888

Variant Present in the following documents:

• Main text

View BVdb publication page

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Emerging role of AMPA receptor subunit GluA1 in synaptic plasticity: Implications for Alzheimer's disease.

Cell Proliferation

Qu, Wenrui W; Yuan, Baoming B; Liu, Jun J; Liu, Qianqian Q; Zhang, Xi X; Cui, Ranji R; Yang, Wei W; Li, Bingjin B

Publication Date: 2021-01

Variant appearance in text: TG: M146V

PubMed Link: 33188547

Variant Present in the following documents:

• CPR-54-e12959.pdf

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: TG: 436A>G

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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Brain region-specific lipid alterations in the PLB4 hBACE1 knock-in mouse model of Alzheimer's disease.

Lipids In Health And Disease

Dey, Madhurima M; Gunn-Moore, Frank J FJ; Platt, Bettina B; Smith, Terry K TK

Publication Date: 2020-08-31

Variant appearance in text: TG: M146V

PubMed Link: 32867761

Variant Present in the following documents:

• Main text

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Neurodegeneration of Trigeminal Mesencephalic Neurons by the Tooth Loss Triggers the Progression of Alzheimer's Disease in 3×Tg-AD Model Mice.

Journal Of Alzheimer'S Disease : Jad

Goto, Tetsuya T; Kuramoto, Eriko E; Dhar, Ashis A; Wang, Rachel Pei-Hsuan RP; Seki, Haruka H; Iwai, Haruki H; Yamanaka, Atsushi A; Matsumoto, Shin-Ei SE; Hara, Hiromitsu H; Michikawa, Makoto M; Ohyagi, Yasumasa Y; Leung, Wai Keung WK; Chang, Raymond Chuen-Chung RC

Publication Date: 2020

Variant appearance in text: TG: M146V

PubMed Link: 32651317

Variant Present in the following documents:

• Main text

View BVdb publication page

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: TG: 436A>G

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: TG: 436A>G

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Human gastric cancer modelling using organoids.

Gut

Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE

Publication Date: 2019-02

Variant appearance in text: TG: Met146Val

PubMed Link: 29703791

Variant Present in the following documents:

• gutjnl-2017-314549supp010.xlsx, sheet 3

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Viscoelasticity of amyloid plaques in transgenic mouse brain studied by Brillouin microspectroscopy and correlative Raman analysis.

Journal Of Innovative Optical Health Sciences

Mattana, Sara S; Caponi, Silvia S; Tamagnini, Francesco F; Fioretto, Daniele D; Palombo, Francesca F

Publication Date: 2017-11

Variant appearance in text: TG: M146V

PubMed Link: 29151920

Variant Present in the following documents:

• Main text

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: TG: 436A>G

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)

Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D

Publication Date: 2017-08-07

Variant appearance in text: TG: 436A>G

PubMed Link: 28663342

Variant Present in the following documents:

• 2413FileS2.xlsx, sheet 1

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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: TG: 436A>G; Met146Val

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

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Repeated administration of the noradrenergic neurotoxin N-(2-chloroethyl)-N-ethyl-2-bromobenzylamine (DSP-4) modulates neuroinflammation and amyloid plaque load in mice bearing amyloid precursor protein and presenilin-1 mutant transgenes.

Journal Of Neuroinflammation

Pugh, Perdita L PL; Vidgeon-Hart, Martin P MP; Ashmeade, Tracey T; Culbert, Ainsley A AA; Seymour, Zoe Z; Perren, Marion J MJ; Joyce, Flora F; Bate, Simon T ST; Babin, Anna A; Virley, David J DJ; Richardson, Jill C JC; Upton, Neil N; Sunter, David D

Publication Date: 2007-02-26

Variant appearance in text: TG: M146V

PubMed Link: 17324270

Variant Present in the following documents:

• Main text
• 1742-2094-4-8.pdf

View BVdb publication page

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