Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: GABRD: 659G>A; R220H

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 2

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Antiseizure medication in early nervous system development. Ion channels and synaptic proteins as principal targets.

Frontiers In Pharmacology

Castro, Patricio A PA; Pinto-Borguero, Ingrid I; Yévenes, Gonzalo E GE; Moraga-Cid, Gustavo G; Fuentealba, Jorge J

Publication Date: 2022

Variant appearance in text: GABRD: R220H

PubMed Link: 36313347

Variant Present in the following documents:

• fphar-13-948412.pdf

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Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

International Journal Of Molecular Sciences

Thakran, Sarita S; Guin, Debleena D; Singh, Pooja P; Singh, Priyanka P; Kukal, Samiksha S; Rawat, Chitra C; Yadav, Saroj S; Kushwaha, Suman S SS; Srivastava, Achal K AK; Hasija, Yasha Y; Saso, Luciano L; Ramachandran, Srinivasan S; Kukreti, Ritushree R

Publication Date: 2020-10-21

Variant appearance in text: GABRD: Arg220His; rs41307846

PubMed Link: 33096746

Variant Present in the following documents:

• Main text
• ijms-21-07784.pdf

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: GABRD: R220H

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy.

Frontiers In Cellular Neuroscience

Gilsoul, Maxime M; Grisar, Thierry T; Delgado-Escueta, Antonio V AV; de Nijs, Laurence L; Lakaye, Bernard B

Publication Date: 2019

Variant appearance in text: GABRD: R220H

PubMed Link: 31611775

Variant Present in the following documents:

• Main text
• fncel-13-00433.pdf

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: rs41307846

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: GABRD: R220H; rs41307846

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: GABRD: R220H; rs41307846

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: rs41307846

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy.

The Journal Of Pharmacology And Experimental Therapeutics

Chuang, Shu-Hui SH; Reddy, Doodipala Samba DS

Publication Date: 2018-02

Variant appearance in text: GABRD: R220H

PubMed Link: 29142081

Variant Present in the following documents:

• Main text

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Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.

Plos One

Santos, Bruna Priscila Dos BPD; Marinho, Chiara Rachel Maciel CRM; Marques, Thalita Ewellyn Batista Sales TEBS; Angelo, Layanne Kelly Gomes LKG; Malta, Maísa Vieira da Silva MVDS; Duzzioni, Marcelo M; Castro, Olagide Wagner de OW; Leite, João Pereira JP; Barbosa, Fabiano Timbó FT; Gitaí, Daniel Leite Góes DLG

Publication Date: 2017

Variant appearance in text: GABRD: Arg220His

PubMed Link: 28636645

Variant Present in the following documents:

• pone.0179629.pdf

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: GABRD: R220H

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: GABRD: R220H; rs41307846

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs41307846

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Tonic GABAA Receptors as Potential Target for the Treatment of Temporal Lobe Epilepsy.

Molecular Neurobiology

Schipper, S S; Aalbers, M W MW; Rijkers, K K; Swijsen, A A; Rigo, J M JM; Hoogland, G G; Vles, J S H JS

Publication Date: 2016-10

Variant appearance in text: GABRD: R220H

PubMed Link: 26409480

Variant Present in the following documents:

• 12035_2015_Article_9423.pdf

View BVdb publication page

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1p36 deletion syndrome: an update.

The Application Of Clinical Genetics

Jordan, Valerie K VK; Zaveri, Hitisha P HP; Scott, Daryl A DA

Publication Date: 2015

Variant appearance in text: GABRD: 659G>A; Arg220His

PubMed Link: 26345236

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.

Molecular Pharmacology

Yuan, Hongjie H; Low, Chian-Ming CM; Moody, Olivia A OA; Jenkins, Andrew A; Traynelis, Stephen F SF

Publication Date: 2015-07

Variant appearance in text: GABRD: R220H

PubMed Link: 25904555

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: GABRD: R220H; rs41307846

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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A novel variant in GABRB2 associated with intellectual disability and epilepsy.

American Journal Of Medical Genetics. Part A

Srivastava, Siddharth S; Cohen, Julie J; Pevsner, Jonathan J; Aradhya, Swaroop S; McKnight, Dianalee D; Butler, Elizabeth E; Johnston, Michael M; Fatemi, Ali A

Publication Date: 2014-11

Variant appearance in text: GABRD: R220H

PubMed Link: 25124326

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of tonic GABAA receptor-mediated inhibition on neuronal excitability varies across brain region and cell type.

Frontiers In Neural Circuits

Lee, Vallent V; Maguire, Jamie J

Publication Date: 2014

Variant appearance in text: GABRD: R220H

PubMed Link: 24550784

Variant Present in the following documents:

• Main text

View BVdb publication page

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Regulation of epileptiform activity by two distinct subtypes of extrasynaptic GABAA receptors.

Molecular Brain

Sun, Yajie Y; Wu, Zheng Z; Kong, Shuzhen S; Jiang, Dongyun D; Pitre, Anar A; Wang, Yun Y; Chen, Gong G

Publication Date: 2013-05-01

Variant appearance in text: GABRD: R220H

PubMed Link: 23634821

Variant Present in the following documents:

• 1756-6606-6-21.pdf

View BVdb publication page

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mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.

Epilepsia

Macdonald, Robert L RL; Kang, Jing-Qiong JQ

Publication Date: 2012-12

Variant appearance in text: GABRD: R220H

PubMed Link: 23216579

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetically complex epilepsies, copy number variants and syndrome constellations.

Genome Medicine

Mefford, Heather C HC; Mulley, John C JC

Publication Date: 2010-10-05

Variant appearance in text: GABRD: R220H

PubMed Link: 20923578

Variant Present in the following documents:

• gm192.pdf

View BVdb publication page

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Mutations affecting GABAergic signaling in seizures and epilepsy.

Pflugers Archiv : European Journal Of Physiology

Galanopoulou, Aristea S AS

Publication Date: 2010-07

Variant appearance in text: GABRD: R220H

PubMed Link: 20352446

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in GABAA receptor subunits associated with genetic epilepsies.

The Journal Of Physiology

Macdonald, Robert L RL; Kang, Jing-Qiong JQ; Gallagher, Martin J MJ

Publication Date: 2010-06-01

Variant appearance in text: GABRD: R220H

PubMed Link: 20308251

Variant Present in the following documents:

• Main text

View BVdb publication page

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Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.

Trends In Molecular Medicine

Kang, Jing-Qiong JQ; Macdonald, Robert L RL

Publication Date: 2009-09

Variant appearance in text: GABRD: R220H

PubMed Link: 19717338

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular pathology of genetic epilepsies associated with GABAA receptor subunit mutations.

Epilepsy Currents

Macdonald, Robert L RL; Kang, Jing-Qiong JQ

Publication Date: 2009

Variant appearance in text: GABRD: R220H

PubMed Link: 19396344

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epilepsy, E/I Balance and GABA(A) Receptor Plasticity.

Frontiers In Molecular Neuroscience

Fritschy, Jean-Marc JM

Publication Date: 2008

Variant appearance in text: GABRD: Arg220His

PubMed Link: 18946538

Variant Present in the following documents:

• fnmol-01-005.pdf

View BVdb publication page

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Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Feng, Hua-Jun HJ; Kang, Jing-Qiong JQ; Song, Luyan L; Dibbens, Leanne L; Mulley, John J; Macdonald, Robert L RL

Publication Date: 2006-02-01

Variant appearance in text: GABRD: R220H

PubMed Link: 16452673

Variant Present in the following documents:

• Main text

View BVdb publication page

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Another "tonic" in the realm of epilepsy.

Epilepsy Currents

Mody, Istvan I

Publication Date: 2004

Variant appearance in text: GABRD: Arg220His

PubMed Link: 16059516

Variant Present in the following documents:

• Main text

View BVdb publication page

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