PMC Links for Nucleotide (Select 213511011) - PMC

Select item 60520251.

BAP31, a newly defined cancer/testis antigen, regulates proliferation, migration, and invasion to promote cervical cancer progression

Erle Dang, Shuya Yang, Chaojun Song, Dongbo Jiang, Zichao Li, Wei Fan, Yuanjie Sun, Liang Tao, Jing Wang, Tingting Liu, Chunmei Zhang, Boquan Jin, Jian Wang, Kun Yang

Cell Death Dis. 2018 Aug; 9(8): 791. Published online 2018 Jul 18. doi: 10.1038/s41419-018-0824-2

PMCID:: PMC6052025

Abstract Article PDF–4.0M

Select item 21397872.

p28 Bap31, a Bcl-2/Bcl-X_L- and Procaspase-8–associated Protein in the Endoplasmic Reticulum

Florence W.H. Ng, Mai Nguyen, Tony Kwan, Philip E. Branton, Donald W. Nicholson, James A. Cromlish, Gordon C. Shore

J Cell Biol. 1997 Oct 20; 139(2): 327–338. doi: 10.1083/jcb.139.2.327

PMCID:: PMC2139787

Abstract Article PDF–606K

Select item 21326293.

Export of Cellubrevin from the Endoplasmic Reticulum Is Controlled by BAP31

Wim G. Annaert, Bernd Becker, Ute Kistner, Michael Reth, Reinhard Jahn

J Cell Biol. 1997 Dec 15; 139(6): 1397–1410. doi: 10.1083/jcb.139.6.1397

PMCID:: PMC2132629

Abstract Article PDF–1.1M

Select item 4500614.

The specificity of association of the IgD molecule with the accessory proteins BAP31/BAP29 lies in the IgD transmembrane sequence.

T Adachi, W W Schamel, K M Kim, T Watanabe, B Becker, P J Nielsen, M Reth

EMBO J. 1996 Apr 1; 15(7): 1534–1541.

PMCID:: PMC450061

Summary Page Browse PDF–1.7M

Select item 4199925.

Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders

Deyanira Corzo, William Gibson, Kisha Johnson, Grant Mitchell, Guy LePage, Gerald F. Cox, Robin Casey, Carolyn Zeiss, Heidi Tyson, Garry R. Cutting, Gerald V. Raymond, Kirby D. Smith, Paul A. Watkins, Ann B. Moser, Hugo W. Moser, Steven J. Steinberg

Am J Hum Genet. 2002 Jun; 70(6): 1520–1531. Published online 2002 Apr 29. doi: 10.1086/340849

PMCID:: PMC419992

Abstract Article PDF–478K

Select item 70570826.

Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation

Kenji Shimizu, Daiju Oba, Ryusuke Nambu, Manabu Tanaka, Eiji Oguma, Kei Murayama, Akira Ohtake, Koh‐ichiro Yoshiura, Hirofumi Ohashi

Mol Genet Genomic Med. 2020 Mar; 8(3): e1129. Published online 2020 Jan 17. doi: 10.1002/mgg3.1129

PMCID:: PMC7057082

Abstract Article PDF–545K

Select item 60383467.

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos

BMC Med Genomics. 2018; 11: 58. Published online 2018 Jul 9. doi: 10.1186/s12920-018-0375-5

PMCID:: PMC6038346

Abstract Article PDF–964K

Select item 58954608.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam, Giovanna Pellecchia, Wilson W L Sung, Zhuozhi Wang, Peter Bikangaga, Cyrus Boelman, Melissa T Carter, Dawn Cordeiro, Cheryl Cytrynbaum, Sharon D Dell, Priya Dhir, James J Dowling, Elise Heon, Stacy Hewson, Linda Hiraki, Michal Inbar-Feigenberg, Regan Klatt, Jonathan Kronick, Ronald M Laxer, Christoph Licht, Heather MacDonald, Saadet Mercimek-Andrews, Roberto Mendoza-Londono, Tino Piscione, Rayfel Schneider, Andreas Schulze, Earl Silverman, Komudi Siriwardena, O Carter Snead, Neal Sondheimer, Joanne Sutherland, Ajoy Vincent, Jonathan D Wasserman, Rosanna Weksberg, Cheryl Shuman, Chris Carew, Michael J Szego, Robin Z Hayeems, Raveen Basran, Dimitri J Stavropoulos, Peter N Ray, Sarah Bowdin, M Stephen Meyn, Ronald D Cohn, Stephen W Scherer, Christian R Marshall

Genet Med. 2018 Apr; 20(4): 435–443. Published online 2017 Aug 3. doi: 10.1038/gim.2017.119

PMCID:: PMC5895460

Abstract Article PDF–224K

Select item 54856649.

Chimeric transcripts resulting from complex duplications in chromosome Xq28

Luciana W. Zuccherato, Benjamin Alleva, Marjorie A. Whiters, Claudia M. B. Carvalho, James R. Lupski

Hum Genet. Author manuscript; available in PMC 2017 Jun 27.

Published in final edited form as: Hum Genet. 2016 Feb; 135(2): 253–256. Published online 2015 Dec 14. doi: 10.1007/s00439-015-1614-x

PMCID:: PMC5485664

Abstract Article PDF–497K

Select item 430421210.

TIGAR2: sensitive and accurate estimation of transcript isoform expression with longer RNA-Seq reads

Naoki Nariai, Kaname Kojima, Takahiro Mimori, Yukuto Sato, Yosuke Kawai, Yumi Yamaguchi-Kabata, Masao Nagasaki

BMC Genomics. 2014; 15(Suppl 10): S5. Published online 2014 Dec 12. doi: 10.1186/1471-2164-15-S10-S5

PMCID:: PMC4304212

Abstract Article PDF–1.2M

Select item 376996911.

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

Pierre Cacciagli, Julie Sutera-Sardo, Ana Borges-Correia, Jean-Christophe Roux, Imen Dorboz, Jean-Pierre Desvignes, Catherine Badens, Marc Delepine, Mark Lathrop, Pierre Cau, Nicolas Lévy, Nadine Girard, Pierre Sarda, Odile Boespflug-Tanguy, Laurent Villard

Am J Hum Genet. 2013 Sep 5; 93(3): 579–586. doi: 10.1016/j.ajhg.2013.07.023

PMCID:: PMC3769969

Abstract Article PDF–1.4M

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