Publications:

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: SIAE: G64S; rs76655561

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 15
• can-22-2224_table_s8_suppst8.xlsx, sheet 1
• can-22-2224_table_s8_suppst8.xlsx, sheet 8
• can-22-2224_table_s8_suppst8.xlsx, sheet 9

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs76655561

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 5

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SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies.

Journal Of Immunology Research

Sevdali, Eirini E; Tsitsami, Elena E; Tsinti, Maria M; Farmaki, Evangelia E; Papadopoulou-Alataki, Efimia E; Germenis, Anastasios E AE; Speletas, Matthaios M

Publication Date: 2017

Variant appearance in text: SIAE: 190G>A; G64S; rs76655561

PubMed Link: 28900629

Variant Present in the following documents:

• Main text
• JIR2017-1514294.pdf

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: SIAE: G64S; rs76655561

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.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: rs76655561

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: SIAE: G64S; rs76655561

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

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M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.

Plos One

Chellappa, Vasant V; Taylor, Kendra N KN; Pedrick, Kathryn K; Donado, Carlos C; Netravali, Ilka Arun IA; Haider, Khaleda K; Cariappa, Annaiah A; Dalomba, Natasha F NF; Pillai, Shiv S

Publication Date: 2013

Variant appearance in text: SIAE: G64S

PubMed Link: 23308225

Variant Present in the following documents:

• Main text
• pone.0053453.pdf

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Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.

Nature

Surolia, Ira I; Pirnie, Stephan P SP; Chellappa, Vasant V; Taylor, Kendra N KN; Cariappa, Annaiah A; Moya, Jesse J; Liu, Haoyuan H; Bell, Daphne W DW; Driscoll, David R DR; Diederichs, Sven S; Haider, Khaleda K; Netravali, Ilka I; Le, Sheila S; Elia, Roberto R; Dow, Ethan E; Lee, Annette A; Freudenberg, Jan J; De Jager, Philip L PL; Chretien, Yves Y; Varki, Ajit A; MacDonald, Marcy E ME; Gillis, Tammy T; Behrens, Timothy W TW; Bloch, Donald D; Collier, Deborah D; Korzenik, Joshua J; Podolsky, Daniel K DK; Hafler, David D; Murali, Mandakolathur M; Sands, Bruce B; Stone, John H JH; Gregersen, Peter K PK; Pillai, Shiv S

Publication Date: 2010-07-08

Variant appearance in text: SIAE: 190G>A; rs76655561

PubMed Link: 20555325

Variant Present in the following documents:

• Main text
• nihms199054.pdf
• NIHMS199054-supplement-1.pdf

View BVdb publication page

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