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: rs503720

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs503720

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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The Purinergic System as a Target for the Development of Treatments for Bipolar Disorder.

Cns Drugs

Gonçalves, Maria Carolina Bittencourt MCB; Andrejew, Roberta R; Gubert, Carolina C

Publication Date: 2022-08

Variant appearance in text: rs503720

PubMed Link: 35829960

Variant Present in the following documents:

• Main text
• 40263_2022_Article_934.pdf

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Neurocognitive outcomes in indonesians living with HIV are influenced by polymorphisms in the gene encoding purinergic P2X receptor 7.

Brain, Behavior, & Immunity - Health

Gaff, Jessica J; Estiasari, Riwanti R; Diafiri, Dinda D; Halstrom, Sam S; Kamerman, Peter P; Price, Patricia P

Publication Date: 2021-05

Variant appearance in text: rs503720

PubMed Link: 34589739

Variant Present in the following documents:

• Main text
• main.pdf

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The P2X7 Receptor: Central Hub of Brain Diseases.

Frontiers In Molecular Neuroscience

Andrejew, Roberta R; Oliveira-Giacomelli, Ágatha Á; Ribeiro, Deidiane Elisa DE; Glaser, Talita T; Arnaud-Sampaio, Vanessa Fernandes VF; Lameu, Claudiana C; Ulrich, Henning H

Publication Date: 2020

Variant appearance in text: rs503720

PubMed Link: 32848594

Variant Present in the following documents:

• Main text
• fnmol-13-00124.pdf

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Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl.

Molecular Pain

Ide, Soichiro S; Nishizawa, Daisuke D; Fukuda, Ken-ichi K; Kasai, Shinya S; Hasegawa, Junko J; Hayashida, Masakazu M; Minami, Masabumi M; Ikeda, Kazutaka K

Publication Date: 2014-12-03

Variant appearance in text: rs503720

PubMed Link: 25472448

Variant Present in the following documents:

• Main text
• 12990_2014_Article_678.pdf

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A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.

American Journal Of Human Genetics

Tamiya, Gen G; Makino, Satoshi S; Hayashi, Makiko M; Abe, Akiko A; Numakura, Chikahiko C; Ueki, Masao M; Tanaka, Atsushi A; Ito, Chizuru C; Toshimori, Kiyotaka K; Ogawa, Nobuhiro N; Terashima, Tomoya T; Maegawa, Hiroshi H; Yanagisawa, Daijiro D; Tooyama, Ikuo I; Tada, Masayoshi M; Onodera, Osamu O; Hayasaka, Kiyoshi K

Publication Date: 2014-09-04

Variant appearance in text: rs503720

PubMed Link: 25152455

Variant Present in the following documents:

• Main text

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Connection between genetic and clinical data in bipolar disorder.

Plos One

Mellerup, Erling E; Andreassen, Ole O; Bennike, Bente B; Dam, Henrik H; Djurovic, Srdjan S; Durovic, Srdjan S; Hansen, Thomas T; Melle, Ingrid I; Møller, Gert Lykke GL; Mors, Ole O; Koefoed, Pernille P

Publication Date: 2012

Variant appearance in text: rs503720

PubMed Link: 23028568

Variant Present in the following documents:

• Main text
• pone.0044623.pdf

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