Publications:

---

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: PIN1: 99G>A; Q33Q; rs2233682

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

BRD4 and PIN1 gene polymorphisms are associated with high pulse pressure risk in a southeastern Chinese population.

Bmc Cardiovascular Disorders

Qiu, Jin-Jia JJ; Yang, Rui-Zhi RZ; Tang, Yi-Jie YJ; Lin, Ying-Yi YY; Xu, Hao-Jie HJ; Zhang, Na N; Liang, Min M; Cai, Hong-da HD; Zeng, Kai K; Wu, Xiao-Dan XD

Publication Date: 2020-11-04

Variant appearance in text: rs2233682

PubMed Link: 33148187

Variant Present in the following documents:

• Main text
• 12872_2020_Article_1757.pdf

View BVdb publication page

---

Mitochondrial pyruvate import is a metabolic vulnerability in androgen receptor-driven prostate cancer.

Nature Metabolism

Bader, David A DA; Hartig, Sean M SM; Putluri, Vasanta V; Foley, Christopher C; Hamilton, Mark P MP; Smith, Eric A EA; Saha, Pradip K PK; Panigrahi, Anil A; Walker, Christopher C; Zong, Lin L; Martini-Stoica, Heidi H; Chen, Rui R; Rajapakshe, Kimal K; Coarfa, Cristian C; Sreekumar, Arun A; Mitsiades, Nicholas N; Bankson, James A JA; Ittmann, Michael M MM; O'Malley, Bert W BW; Putluri, Nagireddy N; McGuire, Sean E SE

Publication Date: 2019-01

Variant appearance in text: PIN1: Gln33Gln

PubMed Link: 31198906

Variant Present in the following documents:

• NIHMS1508495-supplement-Data_Set_1.xlsx, sheet 5

View BVdb publication page

---

A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: PIN1: 99G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

A Guide to PIN1 Function and Mutations Across Cancers.

Frontiers In Pharmacology

El Boustani, Maguie M; De Stefano, Lucia L; Caligiuri, Isabella I; Mouawad, Nayla N; Granchi, Carlotta C; Canzonieri, Vincenzo V; Tuccinardi, Tiziano T; Giordano, Antonio A; Rizzolio, Flavio F

Publication Date: 2018

Variant appearance in text: PIN1: Gln33Gln; rs2233682

PubMed Link: 30723410

Variant Present in the following documents:

• Main text
• fphar-09-01477.pdf

View BVdb publication page

---

The association between PIN1 genetic polymorphisms and the risk of chronic hepatitis B and hepatitis B virus-related liver cirrhosis: A case-control study.

Medicine

Huang, Li L; Mo, Zhuning Z; Li, Shan S; Qin, Xue X

Publication Date: 2018-08

Variant appearance in text: PIN1: Gln33Gln; rs2233682

PubMed Link: 30170446

Variant Present in the following documents:

• Main text
• medi-97-e12123.pdf

View BVdb publication page

---

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Oncotarget

Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D

Publication Date: 2017-12-01

Variant appearance in text: PIN1: Q33Q

PubMed Link: 29285300

Variant Present in the following documents:

• oncotarget-08-105882-s002.xlsx, sheet 1

View BVdb publication page

---

Understanding the role of PIN1 in hepatocellular carcinoma.

World Journal Of Gastroenterology

Cheng, Chi-Wai CW; Leong, Ka-Wai KW; Tse, Eric E

Publication Date: 2016-12-07

Variant appearance in text: PIN1: Gln33Gln; rs2233682

PubMed Link: 28018099

Variant Present in the following documents:

• Main text
• WJG-22-9921.pdf

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: PIN1: Q33Q; rs2233682

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: PIN1: Q33Q; rs2233682

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 38

View BVdb publication page

---

The rs2233678 polymorphism in PIN1 promoter region reduced cancer risk: a meta-analysis.

Plos One

Li, Qi Q; Dong, Zhao Z; Lin, Yun Y; Jia, Xinyan X; Li, Qun Q; Jiang, Hong H; Wang, Liwei L; Gao, Yong Y

Publication Date: 2013

Variant appearance in text: PIN1: Gln33Gln; rs2233682

PubMed Link: 23874525

Variant Present in the following documents:

• Main text
• pone.0068148.pdf

View BVdb publication page

---

The functional promoter polymorphism (-842G>C) in the PIN1 gene is associated with decreased risk of breast cancer in non-Hispanic white women 55 years and younger.

Breast Cancer Research And Treatment

Han, Chan H CH; Lu, Jiachun J; Wei, Qingyi Q; Bondy, Melissa L ML; Brewster, Abenaa M AM; Yu, Tse-Kuan TK; Buchholz, Thomas A TA; Arun, Banu K BK; Wang, Li-E LE

Publication Date: 2010-07

Variant appearance in text: PIN1: Gln33Gln; rs2233682

PubMed Link: 20033770

Variant Present in the following documents:

• Main text

View BVdb publication page

---

PIN1 gene variants in Alzheimer's disease.

Bmc Medical Genetics

Maruszak, Aleksandra A; Safranow, Krzysztof K; Gustaw, Katarzyna K; Kijanowska-Haładyna, Beata B; Jakubowska, Katarzyna K; Olszewska, Maria M; Styczyńska, Maria M; Berdyński, Mariusz M; Tysarowski, Andrzej A; Chlubek, Dariusz D; Siedlecki, Janusz J; Barcikowska, Maria M; Zekanowski, Cezary C

Publication Date: 2009-11-12

Variant appearance in text: rs2233682

PubMed Link: 19909517

Variant Present in the following documents:

• Main text
• 1471-2350-10-115.pdf

View BVdb publication page

---

A novel functional variant (-842G>C) in the PIN1 promoter contributes to decreased risk of squamous cell carcinoma of the head and neck by diminishing the promoter activity.

Carcinogenesis

Lu, Jiachun J; Hu, Zhibin Z; Wei, Sheng S; Wang, Li-E LE; Liu, Zhensheng Z; El-Naggar, Adel K AK; Sturgis, Erich M EM; Wei, Qingyi Q

Publication Date: 2009-10

Variant appearance in text: PIN1: Gln33Gln; rs2233682

PubMed Link: 19625347

Variant Present in the following documents:

• Main text

View BVdb publication page

---