IZUMO1 c.419-84T>C

Variant ID: 19-49246866-A-G

NM_182575.2(IZUMO1):c.419-84T>C

This variant was identified in 20 publications

View GRCh38 version.




Publications:


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: rs838147
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The role of FGF21 and its analogs on liver associated diseases.

Frontiers In Medicine
Falamarzi, Kimia K; Malekpour, Mahdi M; Tafti, Mobin Fallah MF; Azarpira, Negar N; Behboodi, Mehrdad M; Zarei, Mohammad M
Publication Date: 2022

Variant appearance in text: rs838147
PubMed Link: 36457562
Variant Present in the following documents:
  • Main text
  • fmed-09-967375.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs838147
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs838147
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Single-nucleotide Polymorphisms in Medical Nutritional Weight Loss: Challenges and Future Directions.

Journal Of Translational Internal Medicine
Chen, Moxi M; Chen, Wei W
Publication Date: 2022-03

Variant appearance in text: rs838147
PubMed Link: 35702183
Variant Present in the following documents:
  • Main text
  • jtim-10-001.pdf
View BVdb publication page



Mitochondrial haplogroups have a better correlation to insulin requirement than nuclear genetic variants for type 2 diabetes mellitus in Taiwanese individuals.

Journal Of Diabetes Investigation
Shen, Feng-Chih FC; Weng, Shao-Wen SW; Tsai, Meng-Han MH; Su, Yu-Jih YJ; Li, Sung-Chou SC; Chang, Shun-Jen SJ; Chen, Jung-Fu JF; Chang, Yen-Hsiang YH; Liou, Chia-Wei CW; Lin, Tsu-Kung TK; Chuang, Jiin-Haur JH; Lin, Ching-Yi CY; Wang, Pei-Wen PW
Publication Date: 2021-07-13

Variant appearance in text: rs838147
PubMed Link: 34255930
Variant Present in the following documents:
  • Main text
  • JDI-13-201.pdf
View BVdb publication page



Mitochondrial haplogroups have a better correlation to insulin requirement than nuclear genetic variants for type 2 diabetes mellitus in Taiwanese individuals.

Journal Of Diabetes Investigation
Shen, Feng-Chih FC; Weng, Shao-Wen SW; Tsai, Meng-Han MH; Su, Yu-Jih YJ; Li, Sung-Chou SC; Chang, Shun-Jen SJ; Chen, Jung-Fu JF; Chang, Yen-Hsiang YH; Liou, Chia-Wei CW; Lin, Tsu-Kung TK; Chuang, Jiin-Haur JH; Lin, Ching-Yi CY; Wang, Pei-Wen PW
Publication Date: 2022-01

Variant appearance in text: rs838147
PubMed Link: 34255930
Variant Present in the following documents:
  • Main text
  • JDI-13-201.pdf
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: IZUMO1: 419-84T>C; rs838147
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



The Effect of FGF21 and Its Genetic Variants on Food and Drug Cravings, Adipokines and Metabolic Traits.

Biomedicines
Epperlein, Sarah S; Gebhardt, Claudia C; Rohde, Kerstin K; Chakaroun, Rima R; Patt, Marie M; Schamarek, Imke I; Kralisch, Susan S; Heiker, John T JT; Scholz, Markus M; Stumvoll, Michael M; Kovacs, Peter P; Breitfeld, Jana J; Tönjes, Anke A
Publication Date: 2021-03-29

Variant appearance in text: rs838147
PubMed Link: 33805553
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00345.pdf
View BVdb publication page



Associations between Genotype-Diet Interactions and Weight Loss-A Systematic Review.

Nutrients
Bayer, Sandra S; Winkler, Vincent V; Hauner, Hans H; Holzapfel, Christina C
Publication Date: 2020-09-22

Variant appearance in text: rs838147
PubMed Link: 32971836
Variant Present in the following documents:
  • Main text
  • nutrients-12-02891.pdf
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs838147
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Heterogeneity in Metabolic Responses to Dietary Fructose.

Frontiers In Genetics
Hou, Ruixue R; Panda, Chinmayee C; Voruganti, V Saroja VS
Publication Date: 2019

Variant appearance in text: rs838147
PubMed Link: 31737029
Variant Present in the following documents:
  • Main text
  • fgene-10-00945.pdf
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: rs838147
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Gene-Environment Interactions on Body Fat Distribution.

International Journal Of Molecular Sciences
Li, Xiang X; Qi, Lu L
Publication Date: 2019-07-27

Variant appearance in text: rs838147
PubMed Link: 31357654
Variant Present in the following documents:
  • Main text
  • ijms-20-03690.pdf
View BVdb publication page



Obesity genetics and cardiometabolic health: Potential for risk prediction.

Diabetes, Obesity & Metabolism
Sanghera, Dharambir K DK; Bejar, Cynthia C; Sharma, Sonali S; Gupta, Rajeev R; Blackett, Piers R PR
Publication Date: 2019-05

Variant appearance in text: rs838147
PubMed Link: 30667137
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: IZUMO1: 419-84T>C; rs838147
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Associations between Single Nucleotide Polymorphisms and Total Energy, Carbohydrate, and Fat Intakes: A Systematic Review.

Advances In Nutrition (Bethesda, Md.)
Drabsch, Theresa T; Gatzemeier, Jennifer J; Pfadenhauer, Lisa L; Hauner, Hans H; Holzapfel, Christina C
Publication Date: 2018-07-01

Variant appearance in text: rs838147
PubMed Link: 30032228
Variant Present in the following documents:
  • Main text
  • nmy024.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs838147
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Gene-Diet Interaction and Precision Nutrition in Obesity.

International Journal Of Molecular Sciences
Heianza, Yoriko Y; Qi, Lu L
Publication Date: 2017-04-07

Variant appearance in text: rs838147
PubMed Link: 28387720
Variant Present in the following documents:
  • Main text
  • ijms-18-00787.pdf
View BVdb publication page



Macronutrient Intake-Associated FGF21 Genotype Modifies Effects of Weight-Loss Diets on 2-Year Changes of Central Adiposity and Body Composition: The POUNDS Lost Trial.

Diabetes Care
Heianza, Yoriko Y; Ma, Wenjie W; Huang, Tao T; Wang, Tiange T; Zheng, Yan Y; Smith, Steven R SR; Bray, George A GA; Sacks, Frank M FM; Qi, Lu L
Publication Date: 2016-11

Variant appearance in text: rs838147
PubMed Link: 27581055
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs838147
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page