PMC Links for Protein (Select 46049100) - PMC

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Links from Protein

Items: 3

Select item 62908811.

Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis

Alexandros Onoufriadis, Kristina Stone, Antreas Katsiamides, Ariella Amar, Yasmin Omar, Katrina M de Lange, Kirstin Taylor, Jeffrey C Barrett, Richard Pollok, Bu’Hussain Hayee, John C Mansfield, Jeremy D Sanderson, Michael A Simpson, Christopher G Mathew, Natalie J Prescott

J Crohns Colitis. 2018 Feb; 12(3): 321–326. Published online 2017 Dec 4. doi: 10.1093/ecco-jcc/jjx157

PMCID:: PMC6290881

Abstract Article PDF–263K

Select item 60471572.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Matthias Begemann, Faisal I Rezwan, Jasmin Beygo, Louise E Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, Isabel Karen Temple, Thomas Eggermann, Deborah J G Mackay

J Med Genet. 2018 Jul; 55(7): 497–504. Published online 2018 Mar 24. doi: 10.1136/jmedgenet-2017-105190

PMCID:: PMC6047157

Abstract Article PDF–354K

Select item 60187853.

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

JianHua Qian, Ngoc Minh Phuong Nguyen, Maryam Rezaei, Bo Huang, YongLing Tao, XiaoFei Zhang, Qi Cheng, HanJin Yang, Ao Asangla, Jacek Majewski, Rima Slim

Eur J Hum Genet. 2018 Jul; 26(7): 1007–1013. Published online 2018 Apr 25. doi: 10.1038/s41431-018-0141-3