Publications:

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Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency.

Bmc Medical Genomics

Lu, Yitong Y; Zhao, Shaozhi S; He, Xiaohui X; Yang, Hua H; Wang, Xiaolei X; Miao, Chen C; Liu, Hongwei H; Zhang, Xinwen X

Publication Date: 2022-12-25

Variant appearance in text: rs748289202

PubMed Link: 36567323

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1408.pdf

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Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

Bmc Neurology

Chen, Jiannan J; Zhao, Zhe Z; Shen, Hongrui H; Bing, Qi Q; Li, Nan N; Guo, Xuan X; Hu, Jing J

Publication Date: 2022-05-16

Variant appearance in text: MTHFR: R335C

PubMed Link: 35578252

Variant Present in the following documents:

• Main text
• 12883_2022_Article_2708.pdf

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A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences

Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R

Publication Date: 2021-12-23

Variant appearance in text: MTHFR: R335C

PubMed Link: 35008593

Variant Present in the following documents:

• Main text
• ijms-23-00167.pdf

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A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences

Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R

Publication Date: 2021-12-23

Variant appearance in text: MTHFR: R335C

PubMed Link: 35008593

Variant Present in the following documents:

• Main text
• ijms-23-00167.pdf

View BVdb publication page

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The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.

Aging

Liu, Xi X; Li, Yu Y; Wang, Menghan M; Wang, Xiaojun X; Zhang, Limin L; Peng, Tao T; Liang, Wenping W; Wang, Zhe Z; Lu, Hong H

Publication Date: 2020-12-03

Variant appearance in text: rs748289202

PubMed Link: 33290257

Variant Present in the following documents:

• Main text
• aging-13-202256.pdf

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Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A

Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM

Publication Date: 2019-07

Variant appearance in text: MTHFR: R335C

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s007.xlsx, sheet 1

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: MTHFR: 1003C>T; R335C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: MTHFR: R335C

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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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: MTHFR: R335C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: MTHFR: R335C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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