LRRK2 c.1653C>G ;(p.N551K)

Variant ID: 12-40657700-C-G

NM_198578.3(LRRK2):c.1653C>G;(p.N551K)

This variant was identified in 78 publications

View GRCh38 version.




Publications:


Immunological Features of LRRK2 Function and Its Role in the Gut-Brain Axis Governing Parkinson's Disease.

Journal Of Parkinson'S Disease
Peter, Inga I; Strober, Warren W
Publication Date: 2023-04-10

Variant appearance in text: LRRK2: N551K
PubMed Link: 37066923
Variant Present in the following documents:
  • Main text
  • jpd-13-jpd230021.pdf
View BVdb publication page



LRRK2 and Parkinson's disease: from genetics to targeted therapy.

Annals Of Clinical And Translational Neurology
Sosero, Yuri L YL; Gan-Or, Ziv Z
Publication Date: 2023-04-06

Variant appearance in text: LRRK2: N551K
PubMed Link: 37021623
Variant Present in the following documents:
  • Main text
  • ACN3-10-850.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: LRRK2: N551K
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Editorial: Genetic and molecular diversity in Parkinson's disease.

Frontiers In Aging Neuroscience
Abdul Murad, Nor Azian NA; Sulaiman, Siti Aishah SA; Ahmad-Annuar, Azlina A; Mohamed Ibrahim, Norlinah N; Mohamed, Wael W; Md Rani, Shahrul Azmin SA; Mok, Kin Ying KY
Publication Date: 2022

Variant appearance in text: LRRK2: N551K
PubMed Link: 36589546
Variant Present in the following documents:
  • Main text
  • fnagi-14-1094914.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: N/A
PubMed Link: 36467812
Variant Present in the following documents:
View BVdb publication page



Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Genes
Kim, Jeffrey J; Daadi, Etienne W EW; Oh, Thomas T; Daadi, Elyas S ES; Daadi, Marcel M MM
Publication Date: 2022-10-25

Variant appearance in text: LRRK2: N551K
PubMed Link: 36360174
Variant Present in the following documents:
  • Main text
  • genes-13-01937.pdf
View BVdb publication page



Structural Insights and Development of LRRK2 Inhibitors for Parkinson's Disease in the Last Decade.

Genes
Thakur, Gunjan G; Kumar, Vikas V; Lee, Keun Woo KW; Won, Chungkil C
Publication Date: 2022-08-11

Variant appearance in text: LRRK2: N551K
PubMed Link: 36011337
Variant Present in the following documents:
  • Main text
  • genes-13-01426.pdf
View BVdb publication page



Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

The Biochemical Journal
Kalogeropulou, Alexia F AF; Purlyte, Elena E; Tonelli, Francesca F; Lange, Sven M SM; Wightman, Melanie M; Prescott, Alan R AR; Padmanabhan, Shalini S; Sammler, Esther E; Alessi, Dario R DR
Publication Date: 2022-09-16

Variant appearance in text: LRRK2: N551K
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759-s1.pdf
  • BCJ-479-1759.pdf
View BVdb publication page



Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Coku, Ilda I; Mutez, Eugénie E; Eddarkaoui, Sabiha S; Carrier, Sébastien S; Marchand, Antoine A; Deldycke, Claire C; Goveas, Liesel L; Baille, Guillaume G; Tir, Mélissa M; Magnez, Romain R; Thuru, Xavier X; Vermeersch, Gaëlle G; Vandenberghe, Wim W; Buée, Luc L; Defebvre, Luc L; Sablonnière, Bernard B; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM; Huin, Vincent V
Publication Date: 2022-08

Variant appearance in text: LRRK2: N551K
PubMed Link: 35708213
Variant Present in the following documents:
  • Main text
  • MDS-37-1761.pdf
View BVdb publication page



Immunogenetic Determinants of Parkinson's Disease Etiology.

Journal Of Parkinson'S Disease
Kung, Pin-Jui PJ; Elsayed, Inas I; Reyes-Pérez, Paula P; Bandres-Ciga, Sara S
Publication Date: 2022

Variant appearance in text: LRRK2: N551K
PubMed Link: 35367971
Variant Present in the following documents:
  • Main text
  • jpd-12-jpd223176.pdf
View BVdb publication page



High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.

Life (Basel, Switzerland)
Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Bartonikova, Tereza T; Furst, Tomas T; Kanovsky, Petr P; Geryk, Jan J
Publication Date: 2022-01-14

Variant appearance in text: LRRK2: N551K
PubMed Link: 35054514
Variant Present in the following documents:
  • Main text
  • life-12-00121.pdf
View BVdb publication page



High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.

Life (Basel, Switzerland)
Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Bartonikova, Tereza T; Furst, Tomas T; Kanovsky, Petr P; Geryk, Jan J
Publication Date: 2022-01-14

Variant appearance in text: LRRK2: N551K
PubMed Link: 35054514
Variant Present in the following documents:
  • Main text
  • life-12-00121.pdf
View BVdb publication page



Intestinal Inflammation and Parkinson's Disease.

Aging And Disease
Li, Yu Y; Chen, Yuanyuan Y; Jiang, Lili L; Zhang, Jingyu J; Tong, Xuhui X; Chen, Dapeng D; Le, Weidong W
Publication Date: 2021-12

Variant appearance in text: LRRK2: N551K
PubMed Link: 34881085
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12

Variant appearance in text: N/A
PubMed Link: 34879060
Variant Present in the following documents:
View BVdb publication page



Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12-08

Variant appearance in text: N/A
PubMed Link: 34879060
Variant Present in the following documents:
View BVdb publication page



Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.

Movement Disorders : Official Journal Of The Movement Disorder Society
Lake, Julie J; Reed, Xylena X; Langston, Rebekah G RG; Nalls, Mike A MA; Gan-Or, Ziv Z; Cookson, Mark R MR; Singleton, Andrew B AB; Blauwendraat, Cornelis C; Leonard, Hampton L HL; ,
Publication Date: 2022-01

Variant appearance in text: rs7308720
PubMed Link: 34542912
Variant Present in the following documents:
  • MDS-37-95-s003.xlsx, sheet 5
  • MDS-37-95-s003.xlsx, sheet 6
  • MDS-37-95-s003.xlsx, sheet 4
  • MDS-37-95-s003.xlsx, sheet 9
  • MDS-37-95-s003.xlsx, sheet 1
  • MDS-37-95-s003.xlsx, sheet 7
  • MDS-37-95-s003.xlsx, sheet 8
View BVdb publication page



Emerging hiPSC Models for Drug Discovery in Neurodegenerative Diseases.

International Journal Of Molecular Sciences
Trudler, Dorit D; Ghatak, Swagata S; Lipton, Stuart A SA
Publication Date: 2021-07-30

Variant appearance in text: LRRK2: N551K
PubMed Link: 34360966
Variant Present in the following documents:
  • Main text
  • ijms-22-08196.pdf
View BVdb publication page



Understanding LRRK2 kinase activity in preclinical models and human subjects through quantitative analysis of LRRK2 and pT73 Rab10.

Scientific Reports
Wang, Xiang X; Negrou, Elvira E; Maloney, Michael T MT; Bondar, Vitaliy V VV; Andrews, Shan V SV; Montalban, Manuel M; Llapashtica, Ceyda C; Maciuca, Romeo R; Nguyen, Hoang H; Solanoy, Hilda H; Arguello, Annie A; Przybyla, Laralynne L; Moerke, Nathan J NJ; Huntwork-Rodriguez, Sarah S; Henry, Anastasia G AG
Publication Date: 2021-06-18

Variant appearance in text: LRRK2: N551K
PubMed Link: 34145320
Variant Present in the following documents:
  • Main text
  • 41598_2021_91943_MOESM1_ESM.pdf
  • 41598_2021_Article_91943.pdf
View BVdb publication page



Genomic Markers for Essential Tremor.

Pharmaceuticals (Basel, Switzerland)
Jiménez-Jiménez, Félix Javier FJ; Alonso-Navarro, Hortensia H; García-Martín, Elena E; Álvarez, Ignacio I; Pastor, Pau P; Agúndez, José A G JAG
Publication Date: 2021-05-27

Variant appearance in text: N/A
PubMed Link: 34072005
Variant Present in the following documents:
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: LRRK2: 1653C>G; N551K; rs7308720
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Cells
Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2021-04-22

Variant appearance in text: N/A
PubMed Link: 33922322
Variant Present in the following documents:
View BVdb publication page



Current Update on Clinically Relevant Sleep Issues in Parkinson's Disease: A Narrative Review.

Journal Of Parkinson'S Disease
Suzuki, Keisuke K
Publication Date: 2021

Variant appearance in text: LRRK2: N551K
PubMed Link: 33896849
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: LRRK2: 1653C>G; N551K; rs7308720
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Is LRRK2 the missing link between inflammatory bowel disease and Parkinson's disease?

Npj Parkinson'S Disease
Herrick, Mary K MK; Tansey, Malú G MG
Publication Date: 2021-03-09

Variant appearance in text: LRRK2: N551K
PubMed Link: 33750819
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_170.pdf
View BVdb publication page



Inflammatory Diseases Among Norwegian LRRK2 Mutation Carriers. A 15-Years Follow-Up of a Cohort.

Frontiers In Neuroscience
Aasly, Jan O JO
Publication Date: 2021

Variant appearance in text: LRRK2: N551K
PubMed Link: 33584195
Variant Present in the following documents:
  • Main text
  • fnins-15-634666.pdf
View BVdb publication page



The Cell Biology of LRRK2 in Parkinson's Disease.

Molecular And Cellular Biology
Usmani, Ahsan A; Shavarebi, Farbod F; Hiniker, Annie A
Publication Date: 2021-04-22

Variant appearance in text: LRRK2: N551K
PubMed Link: 33526455
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Targets from LRRK2 Rescue Phenotypes.

Cells
Toh, Joanne J; Chua, Ling Ling LL; Ho, Patrick P; Sandanaraj, Edwin E; Tang, Carol C; Wang, Hongyan H; Tan, Eng King EK
Publication Date: 2021-01-05

Variant appearance in text: N/A
PubMed Link: 33466414
Variant Present in the following documents:
View BVdb publication page



LRRK2 at the Interface Between Peripheral and Central Immune Function in Parkinson's.

Frontiers In Neuroscience
Wallings, Rebecca L RL; Herrick, Mary K MK; Tansey, Malú Gámez MG
Publication Date: 2020

Variant appearance in text: LRRK2: N551K
PubMed Link: 32508566
Variant Present in the following documents:
  • Main text
  • fnins-14-00443.pdf
View BVdb publication page



Modeling Parkinson's Disease Using Induced Pluripotent Stem Cells.

Stem Cells International
Hu, Xinchao X; Mao, Chengyuan C; Fan, Liyuan L; Luo, Haiyang H; Hu, Zhengwei Z; Zhang, Shuo S; Yang, Zhihua Z; Zheng, Huimin H; Sun, Huifang H; Fan, Yu Y; Yang, Jing J; Shi, Changhe C; Xu, Yuming Y
Publication Date: 2020

Variant appearance in text: LRRK2: N551K
PubMed Link: 32256606
Variant Present in the following documents:
  • Main text
View BVdb publication page



Leucine Rich Repeat Kinase 2 and Innate Immunity.

Frontiers In Neuroscience
Ahmadi Rastegar, Diba D; Dzamko, Nicolas N
Publication Date: 2020

Variant appearance in text: LRRK2: N551K
PubMed Link: 32210756
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Bmc Medical Genetics
Oluwole, Oluwafemi G OG; Kuivaniemi, Helena H; Abrahams, Shameemah S; Haylett, William L WL; Vorster, Alvera A AA; van Heerden, Carel J CJ; Kenyon, Colin P CP; Tabb, David L DL; Fawale, Michael B MB; Sunmonu, Taofiki A TA; Ajose, Abiodun A; Olaogun, Matthew O MO; Rossouw, Anastasia C AC; van Hillegondsberg, Ludo S LS; Carr, Jonathan J; Ross, Owen A OA; Komolafe, Morenikeji A MA; Tromp, Gerard G; Bardien, Soraya S
Publication Date: 2020-02-04

Variant appearance in text: LRRK2: 1653C>G; Asn551Lys
PubMed Link: 32019516
Variant Present in the following documents:
  • 12881_2020_953_MOESM8_ESM.xlsx, sheet 1
  • 12881_2020_953_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: LRRK2: 1653C>G; Asn551Lys; rs7308720
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: N/A
PubMed Link: 31597922
Variant Present in the following documents:
View BVdb publication page



LRRK2 N551K and R1398H variants are protective in Malays and Chinese in Malaysia: A case-control association study for Parkinson's disease.

Molecular Genetics & Genomic Medicine
Gopalai, Aroma Agape AA; Lim, Jia Lun JL; Li, Hui-Hua HH; Zhao, Yi Y; Lim, Thien Thien TT; Eow, Gaik B GB; Puvanarajah, Santhi S; Viswanathan, Shanthi S; Norlinah, Mohamed Ibrahim MI; Abdul Aziz, Zariah Z; Lim, Soo Kun SK; Tan, Chong Tin CT; Tan, Ai Huey AH; Lim, Shen-Yang SY; Tan, Eng-King EK; Ahmad Annuar, Azlina A
Publication Date: 2019-11

Variant appearance in text: LRRK2: 1653C>G; N551K; rs7308720
PubMed Link: 31487119
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.

Neuropsychiatric Disease And Treatment
Bagyinszky, Eva E; Kang, Min Ju MJ; Pyun, Jungmin J; Giau, Vo Van VV; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019

Variant appearance in text: rs7308720
PubMed Link: 31410005
Variant Present in the following documents:
  • Main text
  • ndt-15-2003.pdf
View BVdb publication page



Malassezia and Parkinson's Disease.

Frontiers In Neurology
Laurence, Martin M; Benito-León, Julián J; Calon, Frédéric F
Publication Date: 2019

Variant appearance in text: LRRK2: N551K
PubMed Link: 31396143
Variant Present in the following documents:
  • Main text
  • fneur-10-00758.pdf
View BVdb publication page



Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fava, Vinicius M VM; Xu, Yong Zhong YZ; Lettre, Guillaume G; Van Thuc, Nguyen N; Orlova, Marianna M; Thai, Vu Hong VH; Tao, Shao S; Croteau, Nathalie N; Eldeeb, Mohamed A MA; MacDougall, Emma J EJ; Cambri, Geison G; Lahiri, Ramanuj R; Adams, Linda L; Fon, Edward A EA; Trempe, Jean-François JF; Cobat, Aurélie A; Alcaïs, Alexandre A; Abel, Laurent L; Schurr, Erwin E
Publication Date: 2019-07-30

Variant appearance in text: N/A
PubMed Link: 31308240
Variant Present in the following documents:
View BVdb publication page



Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports
Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY
Publication Date: 2019-06-10

Variant appearance in text: LRRK2: 1653C>G; rs7308720
PubMed Link: 31182772
Variant Present in the following documents:
  • 41598_2019_44848_MOESM1_ESM.pdf
View BVdb publication page



Peripheral-Central Neuroimmune Crosstalk in Parkinson's Disease: What Do Patients and Animal Models Tell Us?

Frontiers In Neurology
Fuzzati-Armentero, Marie Therese MT; Cerri, Silvia S; Blandini, Fabio F
Publication Date: 2019

Variant appearance in text: N/A
PubMed Link: 30941089
Variant Present in the following documents:
View BVdb publication page



Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences
Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019-03-26

Variant appearance in text: N/A
PubMed Link: 30917570
Variant Present in the following documents:
View BVdb publication page



One Step Into the Future: New iPSC Tools to Advance Research in Parkinson's Disease and Neurological Disorders.

Journal Of Parkinson'S Disease
Mohamed, Nguyen-Vi NV; Larroquette, Frédérique F; Beitel, Lenore K LK; Fon, Edward A EA; Durcan, Thomas M TM
Publication Date: 2019

Variant appearance in text: N/A
PubMed Link: 30741685
Variant Present in the following documents:
View BVdb publication page



Induced pluripotent stem cell-based modeling of mutant LRRK2-associated Parkinson's disease.

The European Journal Of Neuroscience
Weykopf, Beatrice B; Haupt, Simone S; Jungverdorben, Johannes J; Flitsch, Lea Jessica LJ; Hebisch, Matthias M; Liu, Guang-Hui GH; Suzuki, Keiichiro K; Belmonte, Juan Carlos Izpisua JCI; Peitz, Michael M; Blaess, Sandra S; Till, Andreas A; Brüstle, Oliver O
Publication Date: 2019-02

Variant appearance in text: LRRK2: N551K
PubMed Link: 30656775
Variant Present in the following documents:
  • Main text
  • EJN-49-561.pdf
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: N/A
PubMed Link: 30514953
Variant Present in the following documents:
View BVdb publication page



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: N/A
PubMed Link: 30030262
Variant Present in the following documents:
View BVdb publication page



Modeling Neuropsychiatric and Neurodegenerative Diseases With Induced Pluripotent Stem Cells.

Frontiers In Pediatrics
LaMarca, Elizabeth A EA; Powell, Samuel K SK; Akbarian, Schahram S; Brennand, Kristen J KJ
Publication Date: 2018

Variant appearance in text: LRRK2: N551K
PubMed Link: 29666786
Variant Present in the following documents:
  • fped-06-00082.pdf
View BVdb publication page