Publications:

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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: rs858521

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Sex-specific differences in bone mineral density loss after sleeve gastrectomy.

Frontiers In Medicine

Yang, Di D; Ye, Yafen Y; Tu, Yinfang Y; Xu, Rongrong R; Xiao, Yunfeng Y; Zhang, Hongwei H; Liu, Weijie W; Zhang, Pin P; Yu, Haoyong H; Bao, Yuqian Y; Han, Junfeng J

Publication Date: 2022

Variant appearance in text: rs858521

PubMed Link: 36388878

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs858521

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: rs858521

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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The Association of CYP17A1, CYP19A1, and SHBG Gene Polymorphisms in Polycystic Ovary Syndrome Susceptibility: A Systematic Review and Meta-Analysis.

Frontiers In Physiology

Xing, Chuan C; Zhao, Han H; Zhang, Jiaqi J; He, Bing B

Publication Date: 2022

Variant appearance in text: rs858521

PubMed Link: 35615684

Variant Present in the following documents:

• Main text
• fphys-13-741285.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: rs858521

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Association between sex hormone binding globulin gene polymorphism and type 2 diabetes mellitus.

International Journal Of Clinical And Experimental Pathology

Quan, Li L; Wang, Liang L; Wang, Jing J; Yuwen, Binya B; Zhu, Jun J

Publication Date: 2019

Variant appearance in text: rs858521

PubMed Link: 31934198

Variant Present in the following documents:

• Main text

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: rs858521

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A metabolic profile of polyamines in parkinson disease: A promising biomarker.

Annals Of Neurology

Saiki, Shinji S; Sasazawa, Yukiko Y; Fujimaki, Motoki M; Kamagata, Koji K; Kaga, Naoko N; Taka, Hikari H; Li, Yuanzhe Y; Souma, Sanae S; Hatano, Taku T; Imamichi, Yoko Y; Furuya, Norihiko N; Mori, Akio A; Oji, Yutaka Y; Ueno, Shin-Ichi SI; Nojiri, Shuko S; Miura, Yoshiki Y; Ueno, Takashi T; Funayama, Manabu M; Aoki, Shigeki S; Hattori, Nobutaka N

Publication Date: 2019-08

Variant appearance in text: rs858521

PubMed Link: 31155745

Variant Present in the following documents:

• Main text
• ANA-86-251.pdf

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: SAT2: 305-36C>G; rs858521

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.

Carcinogenesis

Freedman, Neal D ND; Ahn, Jiyoung J; Hou, Lifang L; Lissowska, Jolanta J; Zatonski, Witold W; Yeager, Meredith M; Chanock, Stephen J SJ; Chow, Wong Ho WH; Abnet, Christian C CC

Publication Date: 2009-01

Variant appearance in text: rs858521

PubMed Link: 19015200

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Asp(327)Asn polymorphism in the sex hormone-binding globulin gene modifies the association of soy food and tea intake with endometrial cancer risk.

Nutrition And Cancer

Xu, Wang Hong WH; Zheng, Wei W; Cai, Qiuyin Q; Cheng, Jia-Rong JR; Cai, Hui H; Xiang, Yong-Bing YB; Shu, Xiao Ou XO

Publication Date: 2008

Variant appearance in text: rs858521

PubMed Link: 19005973

Variant Present in the following documents:

• Main text

View BVdb publication page

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Two-temperature LATE-PCR endpoint genotyping.

Bmc Biotechnology

Sanchez, J Aquiles JA; Abramowitz, Jessica D JD; Salk, Jesse J JJ; Reis, Arthur H AH; Rice, John E JE; Pierce, Kenneth E KE; Wangh, Lawrence J LJ

Publication Date: 2006-12-04

Variant appearance in text: rs858521

PubMed Link: 17144924

Variant Present in the following documents:

• Main text
• 1472-6750-6-44.pdf

View BVdb publication page

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Direct amplification of single-stranded DNA for pyrosequencing using linear-after-the-exponential (LATE)-PCR.

Analytical Biochemistry

Salk, Jesse J JJ; Sanchez, J Aquiles JA; Pierce, Kenneth E KE; Rice, John E JE; Soares, Kevin C KC; Wangh, Lawrence J LJ

Publication Date: 2006-06-01

Variant appearance in text: rs858521

PubMed Link: 16540077

Variant Present in the following documents:

• Main text

View BVdb publication page

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