Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GGCX: 1502G>C; Trp501Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Vitamin K-Dependent Protein Activation: Normal Gamma-Glutamyl Carboxylation and Disruption in Disease.

International Journal Of Molecular Sciences

Berkner, Kathleen L KL; Runge, Kurt W KW

Publication Date: 2022-05-20

Variant appearance in text: GGCX: W501S

PubMed Link: 35628569

Variant Present in the following documents:

• ijms-23-05759.pdf

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γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.

Blood

Hao, Zhenyu Z; Jin, Da-Yun DY; Chen, Xuejie X; Schurgers, Leon J LJ; Stafford, Darrel W DW; Tie, Jian-Ke JK

Publication Date: 2021-01-28

Variant appearance in text: GGCX: W501S

PubMed Link: 33507293

Variant Present in the following documents:

• Main text

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Influence of SH2B3, MTHFD1L, GGCX, and ITGB3 Gene Polymorphisms on theVariability on Warfarin Dosage Requirements and Susceptibility to CVD in the Jordanian Population.

Journal Of Personalized Medicine

Al-Eitan, Laith N LN; Almasri, Ayah Y AY; Khasawneh, Rame H RH; Alghamdi, Mansour A MA

Publication Date: 2020-09-09

Variant appearance in text: rs28928872

PubMed Link: 32916786

Variant Present in the following documents:

• Main text
• jpm-10-00117.pdf

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GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

International Journal Of Molecular Sciences

De Vilder, Eva Y G EY; Debacker, Jens J; Vanakker, Olivier M OM

Publication Date: 2017-01-25

Variant appearance in text: GGCX: 1502G>C

PubMed Link: 28125048

Variant Present in the following documents:

• Main text
• ijms-18-00240.pdf

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Structural and functional insights into enzymes of the vitamin K cycle.

Journal Of Thrombosis And Haemostasis : Jth

Tie, J-K JK; Stafford, D W DW

Publication Date: 2016-02

Variant appearance in text: GGCX: W501S

PubMed Link: 26663892

Variant Present in the following documents:

• Main text

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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: VKCFD1: W501S; rs28928872

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: GGCX: W501S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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A conformational investigation of propeptide binding to the integral membrane protein γ-glutamyl carboxylase using nanodisc hydrogen exchange mass spectrometry.

Biochemistry

Parker, Christine H CH; Morgan, Christopher R CR; Rand, Kasper D KD; Engen, John R JR; Jorgenson, James W JW; Stafford, Darrel W DW

Publication Date: 2014-03-11

Variant appearance in text: GGCX: W501S

PubMed Link: 24512177

Variant Present in the following documents:

• bi401536m.pdf

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Exon 2 deletion splice variant of gamma-glutamyl carboxylase causes des-gamma-carboxy prothrombin production in hepatocellular carcinoma cell lines.

Molecular Oncology

Ueda, Naoki N; Shiraha, Hidenori H; Fujikawa, Tatsuya T; Takaoka, Nobuyuki N; Nakanishi, Yutaka Y; Suzuki, Mayumi M; Matsuo, Noriyuki N; Tanaka, Shigetomi S; Nishina, Shin-Ichi S; Uemura, Masayuki M; Takaki, Akinobu A; Shiratori, Yasushi Y; Yamamoto, Kazuhide K

Publication Date: 2008-10

Variant appearance in text: GGCX: TRP501SER

PubMed Link: 19383345

Variant Present in the following documents:

• Main text

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: GGCX: W501S; rs28928872

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 2
• gkn1008_nar-01723-s-2008-File008.xls, sheet 2
• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

The Journal Of Investigative Dermatology

Li, Qiaoli Q; Grange, Dorothy K DK; Armstrong, Nicole L NL; Whelan, Alison J AJ; Hurley, Maria Y MY; Rishavy, Mark A MA; Hallgren, Kevin W KW; Berkner, Kathleen L KL; Schurgers, Leon J LJ; Jiang, Qiujie Q; Uitto, Jouni J

Publication Date: 2009-03

Variant appearance in text: GGCX: W501S

PubMed Link: 18800149

Variant Present in the following documents:

• Main text

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