Publications:

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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: rs767870

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs767870

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Polymorphisms analysis for association between ADIPO signaling pathway and genetic susceptibility to T2DM in Chinese han population.

Adipocyte

Yu, Haibing H; Hu, Wei W; Lin, Chunwen C; Xu, Lin L; Liu, Hao H; Luo, Ling L; Chen, Rong R; Huang, Jialu J; Chen, Weiying W; Yang, Chen C; Kong, Danli D; Ding, Yuanlin Y

Publication Date: 2021-12

Variant appearance in text: rs767870

PubMed Link: 34641739

Variant Present in the following documents:

• Main text
• KADI_10_1978728.pdf

View BVdb publication page

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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: ADIPOR2: 650+20G>A; rs767870

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs767870

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Clinical and Genetic Risk Factors of Recurrent Nonalcoholic Fatty Liver Disease After Liver Transplantation.

Clinical And Translational Gastroenterology

Satapathy, Sanjaya K SK; Tran, Quynh T QT; Kovalic, Alexander J AJ; Bontha, Sai Vineela SV; Jiang, Yu Y; Kedia, Satish S; Karri, Saradashri S; Mupparaju, Vamsee V; Podila, Pradeep S B PSB; Verma, Rajanshu R; Maluf, Daniel D; Mas, Valeria V; Nair, Satheesh S; Eason, James D JD; Bridges, Dave D; Kleiner, David E DE

Publication Date: 2021-02-05

Variant appearance in text: rs767870

PubMed Link: 33555168

Variant Present in the following documents:

• Main text

View BVdb publication page

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Importance of genetic polymorphisms in liver transplantation outcomes.

World Journal Of Gastroenterology

Kelava, Tomislav T; Turcic, Petra P; Markotic, Antonio A; Ostojic, Ana A; Sisl, Dino D; Mrzljak, Anna A

Publication Date: 2020-03-28

Variant appearance in text: rs767870

PubMed Link: 32256016

Variant Present in the following documents:

• Main text
• WJG-26-1273.pdf

View BVdb publication page

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Variants in ADIPOQ gene are linked to adiponectin levels and lung function in young males independent of obesity.

Plos One

Christodoulou, Andria A; Ierodiakonou, Despo D; Awofala, Awoyemi A AA; Petrou, Michael M; Kales, Stefanos N SN; Christiani, David C DC; Mantzoros, Christos S CS; Christophi, Costas A CA

Publication Date: 2020

Variant appearance in text: rs767870

PubMed Link: 31978107

Variant Present in the following documents:

• Main text
• pone.0225662.pdf

View BVdb publication page

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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: rs767870

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic and Epigenetic Culprits in the Pathogenesis of Nonalcoholic Fatty Liver Disease.

Journal Of Clinical And Experimental Hepatology

Kovalic, Alexander J AJ; Banerjee, Pratik P; Tran, Quynh T QT; Singal, Ashwani K AK; Satapathy, Sanjaya K SK

Publication Date: 2018-12

Variant appearance in text: rs767870

PubMed Link: 30564000

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: ADIPOR2: 650+20G>A; rs767870

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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South-south collaboration on HIV/AIDS prevention and treatment research: when birds of a feather rarely flock together.

Globalization And Health

Fonseca, Bruna de Paula Fonseca E BPFE; Albuquerque, Priscila Costa PC; Noyons, Ed E; Zicker, Fabio F

Publication Date: 2018-03-01

Variant appearance in text: rs767870

PubMed Link: 29490665

Variant Present in the following documents:

• 12992_2018_341_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Variations in ADIPOR1 But Not ADIPOR2 are Associated With Hypertriglyceridemia and Diabetes in an Admixed Latin American Population.

The Review Of Diabetic Studies : Rds

Mora-García, Gustavo G; Ruiz-Díaz, María S MS; Espitia-Almeida, Fabian F; Gómez-Camargo, Doris D

Publication Date: 2017

Variant appearance in text: rs767870

PubMed Link: 29145541

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs767870

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Association between PNPLA3 (rs738409), LYPLAL1 (rs12137855), PPP1R3B (rs4240624), GCKR (rs780094), and elevated transaminase levels in overweight/obese Mexican adults.

Molecular Biology Reports

Flores, Yvonne N YN; Velázquez-Cruz, Rafael R; Ramírez, Paula P; Bañuelos, Manuel M; Zhang, Zuo-Feng ZF; Yee, Hal F HF; Chang, Shen-Chih SC; Canizales-Quinteros, Samuel S; Quiterio, Manuel M; Cabrera-Alvarez, Guillermo G; Patiño, Nelly N; Salmerón, Jorge J

Publication Date: 2016-12

Variant appearance in text: rs767870

PubMed Link: 27752939

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Molecular Genetics & Genomic Medicine

Edelman, Deborah D; Kalia, Harmit H; Delio, Maria M; Alani, Mustafa M; Krishnamurthy, Karthik K; Abd, Mortadha M; Auton, Adam A; Wang, Tao T; Wolkoff, Allan W AW; Morrow, Bernice E BE

Publication Date: 2015-11

Variant appearance in text: ADIPOR2: 650+20G>A; rs767870

PubMed Link: 26740948

Variant Present in the following documents:

• Main text
• MGG3-3-558.pdf

View BVdb publication page

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Genetic, metabolic and environmental factors involved in the development of liver cirrhosis in Mexico.

World Journal Of Gastroenterology

Ramos-Lopez, Omar O; Martinez-Lopez, Erika E; Roman, Sonia S; Fierro, Nora A NA; Panduro, Arturo A

Publication Date: 2015-11-07

Variant appearance in text: rs767870

PubMed Link: 26556986

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variants in the Insulin-like Growth Factor Pathway and Colorectal Cancer Risk in the Netherlands Cohort Study.

Scientific Reports

Simons, Colinda C J M CC; Schouten, Leo J LJ; Godschalk, Roger W L RW; van Engeland, Manon M; van den Brandt, Piet A PA; van Schooten, Frederik J FJ; Weijenberg, Matty P MP

Publication Date: 2015-09-18

Variant appearance in text: rs767870

PubMed Link: 26381944

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diabetic foot syndrome as a possible cardiovascular marker in diabetic patients.

Journal Of Diabetes Research

Tuttolomondo, Antonino A; Maida, Carlo C; Pinto, Antonio A

Publication Date: 2015

Variant appearance in text: rs767870

PubMed Link: 25883983

Variant Present in the following documents:

• Main text
• JDR2015-268390.pdf

View BVdb publication page

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Adiponectin: Probe of the molecular paradigm associating diabetes and obesity.

World Journal Of Diabetes

Ghoshal, Kakali K; Bhattacharyya, Maitree M

Publication Date: 2015-02-15

Variant appearance in text: rs767870

PubMed Link: 25685286

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diabetic foot syndrome: Immune-inflammatory features as possible cardiovascular markers in diabetes.

World Journal Of Orthopedics

Tuttolomondo, Antonino A; Maida, Carlo C; Pinto, Antonio A

Publication Date: 2015-01-18

Variant appearance in text: rs767870

PubMed Link: 25621212

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adiponectin receptor 2 deficiency results in reduced atherosclerosis in the brachiocephalic artery in apolipoprotein E deficient mice.

Plos One

Lindgren, Anna A; Levin, Malin M; Rodrigo Blomqvist, Sandra S; Wikström, Johannes J; Ahnmark, Andrea A; Mogensen, Christina C; Böttcher, Gerhard G; Bohlooly-Y, Mohammad M; Borén, Jan J; Gan, Li-Ming LM; Lindén, Daniel D

Publication Date: 2013

Variant appearance in text: rs767870

PubMed Link: 24324556

Variant Present in the following documents:

• Main text
• pone.0080330.pdf

View BVdb publication page

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Diagnosing fatty liver disease: a comparative evaluation of metabolic markers, phenotypes, genotypes and established biomarkers.

Plos One

Siegert, Sabine S; Yu, Zhonghao Z; Wang-Sattler, Rui R; Illig, Thomas T; Adamski, Jerzy J; Hampe, Jochen J; Nikolaus, Susanna S; Schreiber, Stefan S; Krawczak, Michael M; Nothnagel, Michael M; Nöthlings, Ute U

Publication Date: 2013

Variant appearance in text: rs767870

PubMed Link: 24130792

Variant Present in the following documents:

• pone.0076813.s004.pdf

View BVdb publication page

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Genetic and epigenetic variants influencing the development of nonalcoholic fatty liver disease.

World Journal Of Gastroenterology

Li, Yu-Yuan YY

Publication Date: 2012-12-07

Variant appearance in text: rs767870

PubMed Link: 23236228

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of ADIPOR2 gene variants with cardiovascular disease and type 2 diabetes risk in individuals with impaired glucose tolerance: the Finnish Diabetes Prevention Study.

Cardiovascular Diabetology

Siitonen, Niina N; Pulkkinen, Leena L; Lindström, Jaana J; Kolehmainen, Marjukka M; Schwab, Ursula U; Eriksson, Johan G JG; Ilanne-Parikka, Pirjo P; Keinänen-Kiukaanniemi, Sirkka S; Tuomilehto, Jaakko J; Uusitupa, Matti M

Publication Date: 2011-09-24

Variant appearance in text: rs767870

PubMed Link: 21943112

Variant Present in the following documents:

• Main text
• 1475-2840-10-83.pdf

View BVdb publication page

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Genetic determinants of hepatic steatosis in man.

Journal Of Lipid Research

Hooper, Amanda J AJ; Adams, Leon A LA; Burnett, John R JR

Publication Date: 2011-04

Variant appearance in text: rs767870

PubMed Link: 21245030

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adiponectin, resistin and IL-6 plasma levels in subjects with diabetic foot and possible correlations with clinical variables and cardiovascular co-morbidity.

Cardiovascular Diabetology

Tuttolomondo, Antonino A; La Placa, Sergio S; Di Raimondo, Domenico D; Bellia, Chiara C; Caruso, Antonietta A; Lo Sasso, Bruna B; Guercio, Giovanni G; Diana, Giuseppe G; Ciaccio, Marcello M; Licata, Giuseppe G; Pinto, Antonio A

Publication Date: 2010-09-13

Variant appearance in text: rs767870

PubMed Link: 20836881

Variant Present in the following documents:

• Main text
• 1475-2840-9-50.pdf

View BVdb publication page

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Genetic variation in the adiponectin receptor 2 (ADIPOR2) gene is associated with coronary artery disease and increased ADIPOR2 expression in peripheral monocytes.

Cardiovascular Diabetology

Halvatsiotis, Iosif I; Tsiotra, Panayoula C PC; Ikonomidis, Ignatios I; Kollias, Anastasios A; Mitrou, Panagiota P; Maratou, Eirini E; Boutati, Eleni E; Lekakis, John J; Dimitriadis, George G; Economopoulos, Theofanis T; Kremastinos, Dimitrios T DT; Raptis, Sotirios A SA

Publication Date: 2010-02-23

Variant appearance in text: rs767870

PubMed Link: 20178558

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations.

Diabetologia

Collins, S C SC; Luan, J J; Thompson, A J AJ; Daly, A A; Semple, R K RK; O'Rahilly, S S; Wareham, N J NJ; Barroso, I I

Publication Date: 2007-03

Variant appearance in text: rs767870

PubMed Link: 17216283

Variant Present in the following documents:

• Main text
• 125_2006_Article_534.pdf

View BVdb publication page

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