Publications:

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Dysregulated Liver Metabolism and Polycystic Ovarian Syndrome.

International Journal Of Molecular Sciences

Khan, Muhammad Sohaib MS; Kim, Hee-Sun HS; Kim, Ranhee R; Yoon, Sang Ho SH; Kim, Sang Geon SG

Publication Date: 2023-04-18

Variant appearance in text: rs12478601

PubMed Link: 37108615

Variant Present in the following documents:

• Main text
• ijms-24-07454.pdf

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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: rs12478601

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Assessment of THADA gene polymorphisms in a sample of Colombian women with polycystic ovary syndrome: A pilot study.

Heliyon

Alarcón-Granados, Maria Camila MC; Moreno-Ortíz, Harold H; Esteban-Pérez, Clara Inés CI; Ferrebuz-Cardozo, Atilio A; Camargo-Villalba, Gloria Eugenia GE; Forero-Castro, Maribel M

Publication Date: 2022-06

Variant appearance in text: rs12478601

PubMed Link: 35711992

Variant Present in the following documents:

• Main text
• main.pdf

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Thada Is Dispensable for Female Fertility in Mice.

Frontiers In Endocrinology

Han, Shan S; Zhang, Yuqing Y; Zheng, Yukun Y; Liu, Congcong C; Jiang, Yonghui Y; Zhao, Shigang S; Zhao, Han H

Publication Date: 2022

Variant appearance in text: rs12478601

PubMed Link: 35480478

Variant Present in the following documents:

• Main text
• fendo-13-787733.pdf

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Targeted Re-Sequencing of the 2p21 Locus Identifies Non-Syndromic Cleft Lip Only Novel Susceptibility Gene ZFP36L2.

Frontiers In Genetics

Li, Mu-Jia MJ; Shi, Jia-Yu JY; Zhu, Qiu-Shuang QS; Shi, Bing B; Jia, Zhong-Lin ZL

Publication Date: 2022

Variant appearance in text: rs12478601

PubMed Link: 35242166

Variant Present in the following documents:

• Main text
• fgene-13-802229.pdf

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Association of rs13429458 and rs12478601 Single Nucleotide Polymorphisms of THADA Gene with Polycystic Ovary Syndrome.

International Journal Of Fertility & Sterility

Naserpoor, Leila L; Jannatifar, Rahil R; Roshanaei, Kambiz K; Khoshandam, Mohadeseh M; Kallhor, Naser N

Publication Date: 2022-01

Variant appearance in text: rs12478601

PubMed Link: 35103430

Variant Present in the following documents:

• Int-J-Fertil-Steril-16-36.pdf

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Pathophysiologic Mechanisms of Insulin Secretion and Signaling-Related Genes in Etiology of Polycystic Ovary Syndrome.

Genetics Research

Shaaban, Zahra Z; Khoradmehr, Arezoo A; Amiri-Yekta, Amir A; Nowzari, Fariborz F; Jafarzadeh Shirazi, Mohammad Reza MR; Tamadon, Amin A

Publication Date: 2021

Variant appearance in text: rs12478601

PubMed Link: 34949963

Variant Present in the following documents:

• Main text
• GR2021-7781823.pdf

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Pathophysiologic Mechanisms of Insulin Secretion and Signaling-Related Genes in Etiology of Polycystic Ovary Syndrome.

Genetics Research

Shaaban, Zahra Z; Khoradmehr, Arezoo A; Amiri-Yekta, Amir A; Nowzari, Fariborz F; Jafarzadeh Shirazi, Mohammad Reza MR; Tamadon, Amin A

Publication Date: 2021

Variant appearance in text: rs12478601

PubMed Link: 34949963

Variant Present in the following documents:

• Main text
• GR2021-7781823.pdf

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Genetic Susceptibility to Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto's Thyroiditis: How Far Is Our Understanding?

Frontiers In Immunology

Zeber-Lubecka, Natalia N; Hennig, Ewa E EE

Publication Date: 2021

Variant appearance in text: rs12478601

PubMed Link: 33746952

Variant Present in the following documents:

• Main text
• fimmu-12-606620.pdf

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Relationship between the characteristic traits of polycystic ovary syndrome and susceptibility genes.

Scientific Reports

Hong, So-Hyeon SH; Hong, Young Sun YS; Jeong, Kyungah K; Chung, Hyewon H; Lee, Hyejin H; Sung, Yeon-Ah YA

Publication Date: 2020-06-26

Variant appearance in text: rs12478601

PubMed Link: 32591571

Variant Present in the following documents:

• Main text
• 41598_2020_Article_66633.pdf

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PCOS-GWAS Susceptibility Variants in THADA, INSR, TOX3, and DENND1A Are Associated With Metabolic Syndrome or Insulin Resistance in Women With PCOS.

Frontiers In Endocrinology

Tian, Ye Y; Li, Jingyu J; Su, Shizhen S; Cao, Yongzhi Y; Wang, Zhao Z; Zhao, Shigang S; Zhao, Han H

Publication Date: 2020

Variant appearance in text: rs12478601

PubMed Link: 32425888

Variant Present in the following documents:

• Main text
• fendo-11-00274.pdf

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PORTABILITY OF GWAS RESULTS BETWEEN ETHNIC POPULATIONS: GENETIC MARKERS FOR POLYCYSTIC OVARY SYNDROME (PCOS) IN MEDITERRANEAN AREA.

Acta Endocrinologica (Bucharest, Romania : 2005)

Douma, Z Z; Lautier, C C; Haydar, S S; Mahjoub, T T; Grigorescu, F F

Publication Date: 2019

Variant appearance in text: rs12478601

PubMed Link: 32010357

Variant Present in the following documents:

• Main text

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The Genetics of Polycystic Ovary Syndrome: An Overview of Candidate Gene Systematic Reviews and Genome-Wide Association Studies.

Journal Of Clinical Medicine

Hiam, Danielle D; Moreno-Asso, Alba A; Teede, Helena J HJ; Laven, Joop S E JSE; Stepto, Nigel K NK; Moran, Lisa J LJ; Gibson-Helm, Melanie M

Publication Date: 2019-10-03

Variant appearance in text: rs12478601

PubMed Link: 31623391

Variant Present in the following documents:

• Main text
• jcm-08-01606.pdf

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Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.

Scientific Reports

Tsui, Nancy B Y NBY; Cheng, Gregory G; Chung, Teresa T; Lam, Christopher W K CWK; Yee, Anita A; Chung, Peter K C PKC; Kwan, Tsz-Ki TK; Ko, Elaine E; He, Daihai D; Wong, Wing-Tak WT; Lau, Johnson Y N JYN; Lau, Lok Ting LT; Fok, Manson M

Publication Date: 2018-01-30

Variant appearance in text: rs12478601

PubMed Link: 29382849

Variant Present in the following documents:

• 41598_2017_19017_MOESM1_ESM.pdf

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Phenotype and Tissue Expression as a Function of Genetic Risk in Polycystic Ovary Syndrome.

Plos One

Pau, Cindy T CT; Mosbruger, Tim T; Saxena, Richa R; Welt, Corrine K CK

Publication Date: 2017

Variant appearance in text: rs12478601

PubMed Link: 28068351

Variant Present in the following documents:

• Main text

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Signatures of natural selection on genetic variants affecting complex human traits.

Applied & Translational Genomics

Zhang, Ge G; Muglia, Louis J LJ; Chakraborty, Ranajit R; Akey, Joshua M JM; Williams, Scott M SM

Publication Date: 2013-12-01

Variant appearance in text: rs12478601

PubMed Link: 27896059

Variant Present in the following documents:

• Main text
• main.pdf

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The Impact of Evolutionary Driving Forces on Human Complex Diseases: A Population Genetics Approach.

Scientifica

Saeb, Amr T M AT; Al-Naqeb, Dhekra D

Publication Date: 2016

Variant appearance in text: rs12478601

PubMed Link: 27313952

Variant Present in the following documents:

• Main text
• SCIENTIFICA2016-2079704.pdf

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Systematic Evaluation of Genetic Variants for Polycystic Ovary Syndrome in a Chinese Population.

Plos One

Xu, Yuping Y; Li, Zhiqiang Z; Ai, Fenglian F; Chen, Jianhua J; Xing, Qiong Q; Zhou, Ping P; Wei, Zhaolian Z; Shi, Yongyong Y; He, Xiao-Jin XJ; Cao, Yunxia Y

Publication Date: 2015

Variant appearance in text: rs12478601

PubMed Link: 26474478

Variant Present in the following documents:

• Main text

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Gene variants associated with age at menopause are also associated with polycystic ovary syndrome, gonadotrophins and ovarian volume.

Human Reproduction (Oxford, England)

Saxena, R R; Bjonnes, A C AC; Georgopoulos, N A NA; Koika, V V; Panidis, D D; Welt, C K CK

Publication Date: 2015-07

Variant appearance in text: rs12478601

PubMed Link: 25994816

Variant Present in the following documents:

• Main text

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Association Study between Polycystic Ovarian Syndrome and the Susceptibility Genes Polymorphisms in Hui Chinese Women.

Plos One

Ha, Lingxia L; Shi, Yuhua Y; Zhao, Junli J; Li, Tao T; Chen, Zi-Jiang ZJ

Publication Date: 2015

Variant appearance in text: rs12478601

PubMed Link: 25978310

Variant Present in the following documents:

• Main text
• pone.0126505.pdf

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Further investigation in europeans of susceptibility variants for polycystic ovary syndrome discovered in genome-wide association studies of Chinese individuals.

The Journal Of Clinical Endocrinology And Metabolism

Brower, Meredith A MA; Jones, Michelle R MR; Rotter, Jerome I JI; Krauss, Ronald M RM; Legro, Richard S RS; Azziz, Ricardo R; Goodarzi, Mark O MO

Publication Date: 2015-01

Variant appearance in text: rs12478601

PubMed Link: 25303487

Variant Present in the following documents:

• Main text

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Genetic alterations within the DENND1A gene in patients with polycystic ovary syndrome (PCOS).

Plos One

Eriksen, Mette B MB; Nielsen, Michael F B MF; Brusgaard, Klaus K; Tan, Qihua Q; Andersen, Marianne S MS; Glintborg, Dorte D; Gaster, Michael M

Publication Date: 2013

Variant appearance in text: rs12478601

PubMed Link: 24086769

Variant Present in the following documents:

• Main text
• pone.0077186.pdf

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Persistence pays off for PCOS gene prospectors.

The Journal Of Clinical Endocrinology And Metabolism

Strauss, Jerome F JF; McAllister, Jan M JM; Urbanek, Margrit M

Publication Date: 2012-07

Variant appearance in text: rs12478601

PubMed Link: 22774210

Variant Present in the following documents:

• Main text

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Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry.

The Journal Of Clinical Endocrinology And Metabolism

Welt, Corrine K CK; Styrkarsdottir, Unnur U; Ehrmann, David A DA; Thorleifsson, Gudmar G; Arason, Gudmundur G; Gudmundsson, Jens A JA; Ober, Carole C; Rosenfield, Robert L RL; Saxena, Richa R; Thorsteinsdottir, Unnur U; Crowley, William F WF; Stefansson, Kari K

Publication Date: 2012-07

Variant appearance in text: rs12478601

PubMed Link: 22547425

Variant Present in the following documents:

• Main text

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Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts.

Journal Of Medical Genetics

Goodarzi, Mark O MO; Jones, Michelle R MR; Li, Xiaohui X; Chua, Angela K AK; Garcia, Obed A OA; Chen, Yii-Der I YD; Krauss, Ronald M RM; Rotter, Jerome I JI; Ankener, Wendy W; Legro, Richard S RS; Azziz, Ricardo R; Strauss, Jerome F JF; Dunaif, Andrea A; Urbanek, Margrit M

Publication Date: 2012-02

Variant appearance in text: rs12478601

PubMed Link: 22180642

Variant Present in the following documents:

• Main text

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