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: rs2273061

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Regulatory SNP of RREB1 is Associated With Bone Mineral Density in Chinese Postmenopausal Osteoporosis Patients.

Frontiers In Genetics

Feng, Shuo S; Wang, Han H; Yan, Yumeng Y; Su, Xin X; Ao, Jintao J; Chen, Wei W

Publication Date: 2021

Variant appearance in text: rs2273061

PubMed Link: 34868232

Variant Present in the following documents:

• Main text
• fgene-12-756957.pdf

View BVdb publication page

---

Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications.

Bone Research

Zhu, Xiaowei X; Bai, Weiyang W; Zheng, Houfeng H

Publication Date: 2021-04-29

Variant appearance in text: rs2273061

PubMed Link: 33927194

Variant Present in the following documents:

• Main text

View BVdb publication page

---

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: JAG1: 440-173C>T; rs2273061

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic Resistance to Mycobacterium tuberculosis Infection and Disease.

Frontiers In Immunology

Möller, Marlo M; Kinnear, Craig J CJ; Orlova, Marianna M; Kroon, Elouise E EE; van Helden, Paul D PD; Schurr, Erwin E; Hoal, Eileen G EG

Publication Date: 2018

Variant appearance in text: rs2273061

PubMed Link: 30319657

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: JAG1: 440-173C>T; rs2273061

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

---

Notch in skeletal physiology and disease.

Osteoporosis International : A Journal Established As Result Of Cooperation Between The European Foundation For Osteoporosis And The National Osteoporosis Foundation Of The Usa

Canalis, E E

Publication Date: 2018-12

Variant appearance in text: rs2273061

PubMed Link: 30194467

Variant Present in the following documents:

• Main text

View BVdb publication page

---

DES-Mutation: System for Exploring Links of Mutations and Diseases.

Scientific Reports

Kordopati, Vasiliki V; Salhi, Adil A; Razali, Rozaimi R; Radovanovic, Aleksandar A; Tifratene, Faroug F; Uludag, Mahmut M; Li, Yu Y; Bokhari, Ameerah A; AlSaieedi, Ahdab A; Bin Raies, Arwa A; Van Neste, Christophe C; Essack, Magbubah M; Bajic, Vladimir B VB

Publication Date: 2018-09-06

Variant appearance in text: rs2273061

PubMed Link: 30190574

Variant Present in the following documents:

• 41598_2018_31439_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

---

Human genetics of mycobacterial disease.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society

Dallmann-Sauer, Monica M; Correa-Macedo, Wilian W; Schurr, Erwin E

Publication Date: 2018-08

Variant appearance in text: rs2273061

PubMed Link: 30116885

Variant Present in the following documents:

• Main text
• 335_2018_Article_9765.pdf

View BVdb publication page

---

Regulatory element-based prediction identifies new susceptibility regulatory variants for osteoporosis.

Human Genetics

Yao, Shi S; Guo, Yan Y; Dong, Shan-Shan SS; Hao, Ruo-Han RH; Chen, Xiao-Feng XF; Chen, Yi-Xiao YX; Chen, Jia-Bin JB; Tian, Qing Q; Deng, Hong-Wen HW; Yang, Tie-Lin TL

Publication Date: 2017-08

Variant appearance in text: rs2273061

PubMed Link: 28634715

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibility.

Plos One

Uren, Caitlin C; Henn, Brenna M BM; Franke, Andre A; Wittig, Michael M; van Helden, Paul D PD; Hoal, Eileen G EG; Möller, Marlo M

Publication Date: 2017

Variant appearance in text: rs2273061

PubMed Link: 28384278

Variant Present in the following documents:

• Main text

View BVdb publication page

---

MiR-199b-5p inhibits osteogenic differentiation in ligamentum flavum cells by targeting JAG1 and modulating the Notch signalling pathway.

Journal Of Cellular And Molecular Medicine

Qu, Xiaochen X; Chen, Zhongqiang Z; Fan, Dongwei D; Sun, Chuiguo C; Zeng, Yan Y; Guo, Zhaoqing Z; Qi, Qiang Q; Li, Weishi W

Publication Date: 2017-06

Variant appearance in text: rs2273061

PubMed Link: 27957826

Variant Present in the following documents:

• Main text
• JCMM-21-1159.pdf

View BVdb publication page

---

Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study.

Human Molecular Genetics

Hsu, Yi-Hsiang YH; Li, Guo G; Liu, Ching-Ti CT; Brody, Jennifer A JA; Karasik, David D; Chou, Wen-Chi WC; Demissie, Serkalem S; Nandakumar, Kannabiran K; Zhou, Yanhua Y; Cheng, Chia-Ho CH; Gill, Richard R; Gibbs, Richard A RA; Muzny, Donna D; Santibanez, Jireh J; Estrada, Karol K; Rivadeneira, Fernando F; Harris, Tamara T; Gudnason, Vilmundur V; Uitterlinden, Andre A; Psaty, Bruce M BM; Robbins, John A JA; Adrienne Cupples, L L; Kiel, Douglas P DP

Publication Date: 2016-12-01

Variant appearance in text: rs2273061

PubMed Link: 27616567

Variant Present in the following documents:

• Main text

View BVdb publication page

---

GenToS: Use of Orthologous Gene Information to Prioritize Signals from Human GWAS.

Plos One

Hoppmann, Anselm S AS; Schlosser, Pascal P; Backofen, Rolf R; Lausch, Ekkehart E; Köttgen, Anna A

Publication Date: 2016

Variant appearance in text: rs2273061

PubMed Link: 27612175

Variant Present in the following documents:

• Main text
• pone.0162466.pdf

View BVdb publication page

---

Computational Characterization of Osteoporosis Associated SNPs and Genes Identified by Genome-Wide Association Studies.

Plos One

Qin, Longjuan L; Liu, Yuyong Y; Wang, Ya Y; Wu, Guiju G; Chen, Jie J; Ye, Weiyuan W; Yang, Jiancai J; Huang, Qingyang Q

Publication Date: 2016

Variant appearance in text: rs2273061

PubMed Link: 26930606

Variant Present in the following documents:

• Main text
• pone.0150070.pdf

View BVdb publication page

---

Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry.

Human Molecular Genetics

Figueroa, Jonine D JD; Middlebrooks, Candace D CD; Banday, A Rouf AR; Ye, Yuanqing Y; Garcia-Closas, Montserrat M; Chatterjee, Nilanjan N; Koutros, Stella S; Kiemeney, Lambertus A LA; Rafnar, Thorunn T; Bishop, Timothy T; Furberg, Helena H; Matullo, Giuseppe G; Golka, Klaus K; Gago-Dominguez, Manuela M; Taylor, Jack A JA; Fletcher, Tony T; Siddiq, Afshan A; Cortessis, Victoria K VK; Kooperberg, Charles C; Cussenot, Olivier O; Benhamou, Simone S; Prescott, Jennifer J; Porru, Stefano S; Dinney, Colin P CP; Malats, Núria N; Baris, Dalsu D; Purdue, Mark P MP; Jacobs, Eric J EJ; Albanes, Demetrius D; Wang, Zhaoming Z; Chung, Charles C CC; Vermeulen, Sita H SH; Aben, Katja K KK; Galesloot, Tessel E TE; Thorleifsson, Gudmar G; Sulem, Patrick P; Stefansson, Kari K; Kiltie, Anne E AE; Harland, Mark M; Teo, Mark M; Offit, Kenneth K; Vijai, Joseph J; Bajorin, Dean D; Kopp, Ryan R; Fiorito, Giovanni G; Guarrera, Simonetta S; Sacerdote, Carlotta C; Selinski, Silvia S; Hengstler, Jan G JG; Gerullis, Holger H; Ovsiannikov, Daniel D; Blaszkewicz, Meinolf M; Castelao, Jose Esteban JE; Calaza, Manuel M; Martinez, Maria Elena ME; Cordeiro, Patricia P; Xu, Zongli Z; Panduri, Vijayalakshmi V; Kumar, Rajiv R; Gurzau, Eugene E; Koppova, Kvetoslava K; Bueno-De-Mesquita, H Bas HB; Ljungberg, Börje B; Clavel-Chapelon, Françoise F; Weiderpass, Elisabete E; Krogh, Vittorio V; Dorronsoro, Miren M; Travis, Ruth C RC; Tjønneland, Anne A; Brennan, Paul P; Chang-Claude, Jenny J; Riboli, Elio E; Conti, David D; Stern, Marianna C MC; Pike, Malcolm C MC; Van Den Berg, David D; Yuan, Jian-Min JM; Hohensee, Chancellor C; Jeppson, Rebecca P RP; Cancel-Tassin, Geraldine G; Roupret, Morgan M; Comperat, Eva E; Turman, Constance C; De Vivo, Immaculata I; Giovannucci, Edward E; Hunter, David J DJ; Kraft, Peter P; Lindstrom, Sara S; Carta, Angela A; Pavanello, Sofia S; Arici, Cecilia C; Mastrangelo, Giuseppe G; Kamat, Ashish M AM; Zhang, Liren L; Gong, Yilei Y; Pu, Xia X; Hutchinson, Amy A; Burdett, Laurie L; Wheeler, William A WA; Karagas, Margaret R MR; Johnson, Alison A; Schned, Alan A; Monawar Hosain, G M GM; Schwenn, Molly M; Kogevinas, Manolis M; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; García-Closas, Reina R; Lloreta, Josep J; Andriole, Gerald G; Grubb, Robert R; Black, Amanda A; Diver, W Ryan WR; Gapstur, Susan M SM; Weinstein, Stephanie S; Virtamo, Jarmo J; Haiman, Christopher A CA; Landi, Maria Teresa MT; Caporaso, Neil E NE; Fraumeni, Joseph F JF; Vineis, Paolo P; Wu, Xifeng X; Chanock, Stephen J SJ; Silverman, Debra T DT; Prokunina-Olsson, Ludmila L; Rothman, Nathaniel N

Publication Date: 2016-03-15

Variant appearance in text: rs2273061

PubMed Link: 26732427

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.

Meta Gene

Vázquez-Martínez, Edgar Ricardo ER; Varela-Fascinetto, Gustavo G; García-Delgado, Constanza C; Rodríguez-Espino, Benjamín Antonio BA; Sánchez-Boiso, Adriana A; Valencia-Mayoral, Pedro P; Heller-Rosseau, Solange S; Pelcastre-Luna, Erika Lisselly EL; Zenteno, Juan C JC; Cerbón, Marco M; Morán-Barroso, Verónica Fabiola VF

Publication Date: 2014-12

Variant appearance in text: rs2273061

PubMed Link: 25606387

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Analysis of association of MEF2C, SOST and JAG1 genes with bone mineral density in Mexican-Mestizo postmenopausal women.

Bmc Musculoskeletal Disorders

Velázquez-Cruz, Rafael R; Jiménez-Ortega, Rogelio F RF; Parra-Torres, Alma Y AY; Castillejos-López, Manuel M; Patiño, Nelly N; Quiterio, Manuel M; Villarreal-Molina, Teresa T; Salmerón, Jorge J

Publication Date: 2014-11-28

Variant appearance in text: rs2273061

PubMed Link: 25430630

Variant Present in the following documents:

• Main text
• 12891_2014_Article_2341.pdf

View BVdb publication page

---

Relation of JAGGED 1 and collagen type 1 alpha 1 polymorphisms with bone mineral density in Chinese postmenopausal women.

International Journal Of Clinical And Experimental Pathology

Zhang, Li-Qin LQ; Liu, Hua H; Huang, Xian-Feng XF

Publication Date: 2014

Variant appearance in text: rs2273061

PubMed Link: 25400810

Variant Present in the following documents:

• Main text

View BVdb publication page

---

4q22.1 contributes to bone mineral density and osteoporosis susceptibility in postmenopausal women of Chinese Han population.

Plos One

Yang, Haojie H; Zhang, Bo B; Zhu, Jialin J; Liu, Dan D; Guan, Fanglin F; He, Xijing X

Publication Date: 2013

Variant appearance in text: rs2273061

PubMed Link: 24278256

Variant Present in the following documents:

• Main text
• pone.0080165.pdf

View BVdb publication page

---

Genome-wide approaches for identifying genetic risk factors for osteoporosis.

Genome Medicine

Wu, Shuyan S; Liu, Yongjun Y; Zhang, Lei L; Han, Yingying Y; Lin, Yong Y; Deng, Hong-Wen HW

Publication Date: 2013

Variant appearance in text: rs2273061

PubMed Link: 23731620

Variant Present in the following documents:

• Main text
• gm448.pdf

View BVdb publication page

---

Systems genetics: a novel approach to dissect the genetic basis of osteoporosis.

Current Osteoporosis Reports

Farber, Charles R CR

Publication Date: 2012-09

Variant appearance in text: rs2273061

PubMed Link: 22802146

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians.

Bmc Medical Genetics

Png, Eileen E; Alisjahbana, Bachti B; Sahiratmadja, Edhyana E; Marzuki, Sangkot S; Nelwan, Ron R; Balabanova, Yanina Y; Nikolayevskyy, Vladyslav V; Drobniewski, Francis F; Nejentsev, Sergey S; Adnan, Iskandar I; van de Vosse, Esther E; Hibberd, Martin L ML; van Crevel, Reinout R; Ottenhoff, Tom H M TH; Seielstad, Mark M

Publication Date: 2012-01-13

Variant appearance in text: rs2273061

PubMed Link: 22239941

Variant Present in the following documents:

• Main text
• 1471-2350-13-5.pdf

View BVdb publication page

---

JAG1 and COL1A1 polymorphisms and haplotypes in relation to bone mineral density variations in postmenopausal Mexican-Mestizo Women.

Age (Dordrecht, Netherlands)

Rojano-Mejía, David D; Coral-Vázquez, Ramón M RM; Espinosa, Leticia Cortes LC; López-Medina, Guillermo G; Aguirre-García, María C MC; Coronel, Agustín A; Canto, Patricia P

Publication Date: 2013-04

Variant appearance in text: rs2273061

PubMed Link: 22174012

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.

American Journal Of Human Genetics

Kung, Annie W C AW; Xiao, Su-Mei SM; Cherny, Stacey S; Li, Gloria H Y GH; Gao, Yi Y; Tso, Gloria G; Lau, Kam S KS; Luk, Keith D K KD; Liu, Jian-min JM; Cui, Bin B; Zhang, Min-Jia MJ; Zhang, Zhen-lin ZL; He, Jin-wei JW; Yue, Hua H; Xia, Wia-bo WB; Luo, Lian-mei LM; He, Shu-li SL; Kiel, Douglas P DP; Karasik, David D; Hsu, Yi-Hsiang YH; Cupples, L Adrienne LA; Demissie, Serkalem S; Styrkarsdottir, Unnur U; Halldorsson, Bjarni V BV; Sigurdsson, Gunnar G; Thorsteinsdottir, Unnur U; Stefansson, Kari K; Richards, J Brent JB; Zhai, Guangju G; Soranzo, Nicole N; Valdes, Ana A; Spector, Tim D TD; Sham, Pak C PC

Publication Date: 2010-02-12

Variant appearance in text: rs2273061

PubMed Link: 20096396

Variant Present in the following documents:

• Main text

View BVdb publication page

---