PMC Links for Books (Select 5469932) - PMC

Select item 92688941.

Biallelic loss of EMC10 leads to mild to severe intellectual disability

Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, Sughra Gulieva, Maha S. Zaki, Noa Z. Henig, Karine Siquier, Ulviyya Guliyeva, Samir M. Mounir, Daphna Marom, Aynur Allahverdiyeva, Hisham Megahed, Hans van Bokhoven, Vincent Cantagrel, Aboulfazl Rad, Alemeh Pourkeramti, Boshra Dehghani, Diane D. Shao, Keren Markus‐Bustani, Efrat Sofrin‐Drucker, Naama Orenstein, Kamran Salayev, Filippo Arrigoni, Henry Houlden, Reza Maroofian

Ann Clin Transl Neurol. 2022 Jul; 9(7): 1080–1089. Published online 2022 Jun 9. doi: 10.1002/acn3.51602

PMCID:: PMC9268894

Abstract Article PDF–3.5M

Select item 81871452.

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Diane D. Shao, Rachel Straussberg, Hind Ahmed, Amjad Khan, Songhai Tian, R. Sean Hill, Richard S. Smith, Amar J. Majmundar, Najim Ameziane, Jennifer E. Neil, Edward Yang, Amal Al Tenaiji, Saumya S. Jamuar, Thorsten M. Schlaeger, Muna Al-Saffar, Iris Hovel, Aisha Al-Shamsi, Lina Basel-Salmon, Achiya Z. Amir, Lariza M. Rento, Jiin Ying Lim, Indra Ganesan, Shirlee Shril, Gilad Evrony, A. James Barkovich, Peter Bauer, Friedhelm Hildebrandt, Min Dong, Guntram Borck, Christian Beetz, Lihadh Al-Gazali, Wafaa Eyaid, Christopher A. Walsh

Genet Med. 2021; 23(6): 1158–1162. Published online 2021 Feb 2. doi: 10.1038/s41436-021-01097-x

PMCID:: PMC8187145

Abstract Article PDF–1.4M

Select item 79628893.

EMC10 governs male fertility via maintaining sperm ion balance

Yuchuan Zhou, Fei Wu, Man Zhang, Zuquan Xiong, Qianqian Yin, Yanfei Ru, Huijuan Shi, Jinsong Li, Shanhua Mao, Yanliang Li, Xinyi Cao, Renming Hu, Chong Wee Liew, Qiang Ding, Xuanchun Wang, Yonglian Zhang

J Mol Cell Biol. 2018 Dec; 10(6): 503–514. Published online 2018 Apr 6. doi: 10.1093/jmcb/mjy024

PMCID:: PMC7962889

Abstract Article PDF–966K

Select item 77563164.

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

Muhammad Umair, Mariam Ballow, Abdulaziz Asiri, Yusra Alyafee, Abeer al Tuwaijri, Kheloud M. Alhamoudi, Taghrid Aloraini, Marwa Abdelhakim, Azza Thamer Althagafi, Senay Kafkas, Lamia Alsubaie, Muhammad Talal Alrifai, Robert Hoehndorf, Ahmed Alfares, Majid Alfadhel

Clin Genet. 2020 Dec; 98(6): 555–561. Published online 2020 Sep 15. doi: 10.1111/cge.13842

PMCID:: PMC7756316

Abstract Article PDF–1.7M

Select item 74972895.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 72061446.

ER complex proteins are required for rhodopsin biosynthesis and photoreceptor survival in Drosophila and mice

Liangyao Xiong, Lin Zhang, Yeming Yang, Na Li, Wenjia Lai, Fengchao Wang, Xianjun Zhu, Tao Wang

Cell Death Differ. 2020 Feb; 27(2): 646–661. Published online 2019 Jul 1. doi: 10.1038/s41418-019-0378-6

PMCID:: PMC7206144

Abstract Article PDF–3.8M

Select item 45447537.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 42954818.

Human hematopoietic signal peptide-containing secreted 1 (hHSS1) modulates genes and pathways in glioma: implications for the regulation of tumorigenicity and angiogenesis

Katiana S Junes-Gill, Chris E Lawrence, Christopher J Wheeler, Ryan Cordner, Tristan G Gill, Vernon Mar, Liron Shiri, Lena A Basile

BMC Cancer. 2014; 14: 920. Published online 2014 Dec 6. doi: 10.1186/1471-2407-14-920

PMCID:: PMC4295481

Abstract Article PDF–1.6M

Select item 41967389.

A Conserved Endoplasmic Reticulum Membrane Protein Complex (EMC) Facilitates Phospholipid Transfer from the ER to Mitochondria

Sujoy Lahiri, Jesse T. Chao, Shabnam Tavassoli, Andrew K. O. Wong, Vineet Choudhary, Barry P. Young, Christopher J. R. Loewen, William A. Prinz

PLoS Biol. 2014 Oct; 12(10): e1001969. Published online 2014 Oct 14. doi: 10.1371/journal.pbio.1001969

PMCID:: PMC4196738

Abstract Article PDF–8.0M

Select item 355681810.

Derepression of a novel neuronal inhibitor is a major outcome of miRNA dysregulation due to 22q11.2 microdeletion

Bin Xu, Pei-Ken Hsu, Kimberly L. Stark, Maria Karayiorgou, Joseph A. Gogos

Cell. Author manuscript; available in PMC 2014 Jan 17.

Published in final edited form as: Cell. 2013 Jan 17; 152(1-2): 262–275. doi: 10.1016/j.cell.2012.11.052

PMCID:: PMC3556818

Abstract Article PDF–4.0M

Select item 287748811.

Comprehensive characterization of genes required for protein folding in the endoplasmic reticulum

Martin C. Jonikas, Sean R. Collins, Vladimir Denic, Eugene Oh, Erin M. Quan, Volker Schmid, Jimena Weibezahn, Blanche Schwappach, Peter Walter, Jonathan S. Weissman, Maya Schuldiner

Science. Author manuscript; available in PMC 2010 May 27.

Published in final edited form as: Science. 2009 Mar 27; 323(5922): 1693–1697. doi: 10.1126/science.1167983

PMCID:: PMC2877488

Abstract Article PDF–2.1M

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