GAA c.1880C>T ;(p.S627F)

Variant ID: 17-78086502-C-T

NM_000152.3(GAA):c.1880C>T;(p.S627F)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Induced pluripotent stem cell for modeling Pompe disease.

Frontiers In Cardiovascular Medicine
Huang, Wenjun W; Zhang, Yanmin Y; Zhou, Rui R
Publication Date: 2022

Variant appearance in text: GAA: 1880C>T
PubMed Link: 36620633
Variant Present in the following documents:
  • Main text
  • fcvm-09-1061384.pdf
View BVdb publication page



Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.

Frontiers In Immunology
De Groot, Anne S AS; Desai, Ankit K AK; Lelias, Sandra S; Miah, S M Shahjahan SMS; Terry, Frances E FE; Khan, Sundos S; Li, Cindy C; Yi, John S JS; Ardito, Matt M; Martin, William D WD; Kishnani, Priya S PS
Publication Date: 2021

Variant appearance in text: GAA: 1880C>T
PubMed Link: 34220802
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



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: GAA: 1880C>T
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: GAA: S627F
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Khan, Aleena A AA; Case, Laura E LE; Herbert, Mrudu M; DeArmey, Stephanie S; Jones, Harrison H; Crisp, Kelly K; Zimmerman, Kanecia K; ElMallah, Mai K MK; Young, Sarah P SP; Kishnani, Priya S PS
Publication Date: 2020-05

Variant appearance in text: GAA: 1880C>T
PubMed Link: 31904026
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.

Pediatric Pulmonology
ElMallah, Mai K MK; Desai, Ankit K AK; Nading, Erica B EB; DeArmey, Stephanie S; Kravitz, Richard M RM; Kishnani, Priya S PS
Publication Date: 2020-03

Variant appearance in text: GAA: 1880C>T
PubMed Link: 31899940
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Liver Model of Infantile-Onset Pompe Disease Using Patient-Specific Induced Pluripotent Stem Cells.

Frontiers In Cell And Developmental Biology
Yoshida, Takeshi T; Jonouchi, Tatsuya T; Osafune, Kenji K; Takita, Junko J; Sakurai, Hidetoshi H
Publication Date: 2019

Variant appearance in text: GAA: 1880C>T
PubMed Link: 31850350
Variant Present in the following documents:
  • Main text
  • fcell-07-00316.pdf
View BVdb publication page



GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11

Variant appearance in text: GAA: 1880C>T
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
  • HUMU-40-2146-s001.pdf
  • HUMU-40-2146.pdf
View BVdb publication page



Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Molecular Genetics And Metabolism Reports
Desai, Ankit K AK; Kazi, Zoheb B ZB; Bali, Deeksha S DS; Kishnani, Priya S PS
Publication Date: 2019-09

Variant appearance in text: GAA: 1880C>T; Ser627Phe
PubMed Link: 31193175
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

Molecular Genetics And Metabolism
Desai, Ankit K AK; Walters, Crista K CK; Cope, Heidi L HL; Kazi, Zoheb B ZB; DeArmey, Stephanie M SM; Kishnani, Priya S PS
Publication Date: 2018-02

Variant appearance in text: GAA: 1880C>T
PubMed Link: 29289479
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Molecular Genetics And Metabolism
Mori, Mari M; Haskell, Gloria G; Kazi, Zoheb Z; Zhu, Xiaolin X; DeArmey, Stephanie M SM; Goldstein, Jennifer L JL; Bali, Deeksha D; Rehder, Catherine C; Cirulli, Elizabeth T ET; Kishnani, Priya S PS
Publication Date: 2017-12

Variant appearance in text: GAA: 1880C>T; Ser627Phe
PubMed Link: 29122469
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells.

Scientific Reports
Yoshida, Takeshi T; Awaya, Tomonari T; Jonouchi, Tatsuya T; Kimura, Ryo R; Kimura, Shigemi S; Era, Takumi T; Heike, Toshio T; Sakurai, Hidetoshi H
Publication Date: 2017-10-18

Variant appearance in text: GAA: 1880C>T
PubMed Link: 29044175
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_14063.pdf
View BVdb publication page



Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics
Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M
Publication Date: 2017-02-23

Variant appearance in text: GAA: 1880C>T
PubMed Link: 28231761
Variant Present in the following documents:
  • 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Comparative analysis of Corynebacterium glutamicum genomes: a new perspective for the industrial production of amino acids.

Bmc Genomics
Yang, Junjie J; Yang, Sheng S
Publication Date: 2017-01-25

Variant appearance in text: GAA: Ser627Phe
PubMed Link: 28198668
Variant Present in the following documents:
  • 12864_2016_3255_MOESM5_ESM.xls, sheet 1
View BVdb publication page



Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.

Journal Of Pediatric Ophthalmology And Strabismus
Prakalapakorn, S Grace SG; Proia, Alan D AD; Yanovitch, Tammy L TL; DeArmey, Stephanie S; Mendelsohn, Nancy J NJ; Aleck, Kyrieckos A KA; Kishnani, Priya S PS
Publication Date: 2014

Variant appearance in text: GAA: 1880C>T; Ser627Phe
PubMed Link: 25139343
Variant Present in the following documents:
  • Main text
View BVdb publication page



The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

Acta Neuropathologica Communications
Feeney, Erin J EJ; Austin, Stephanie S; Chien, Yin-Hsiu YH; Mandel, Hanna H; Schoser, Benedikt B; Prater, Sean S; Hwu, Wuh-Liang WL; Ralston, Evelyn E; Kishnani, Priya S PS; Raben, Nina N
Publication Date: 2014-01-02

Variant appearance in text: GAA: 1880C>T; Ser627Phe
PubMed Link: 24383498
Variant Present in the following documents:
View BVdb publication page



Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

Orphanet Journal Of Rare Diseases
Prater, Sean N SN; Patel, Trusha T TT; Buckley, Anne F AF; Mandel, Hanna H; Vlodavski, Eugene E; Banugaria, Suhrad G SG; Feeney, Erin J EJ; Raben, Nina N; Kishnani, Priya S PS
Publication Date: 2013-06-20

Variant appearance in text: GAA: 1880C>T; Ser627Phe
PubMed Link: 23787031
Variant Present in the following documents:
  • Main text
  • 1750-1172-8-90.pdf
View BVdb publication page