PMC Links for Protein (Select 6174895) - PMC

Select item 54444171.

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss

Rongrong Wang, Shirui Han, Amjad Khan, Xue Zhang

Genet Test Mol Biomarkers. 2017 May 1; 21(5): 316–321. Published online 2017 May 1. doi: 10.1089/gtmb.2016.0328

PMCID:: PMC5444417

Select item 50182072.

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur

Nature. Author manuscript; available in PMC 2017 Feb 17.

Published in final edited form as: Nature. 2016 Aug 18; 536(7616): 285–291. doi: 10.1038/nature19057

PMCID:: PMC5018207

Abstract Article PDF–3.1M

Select item 26630203.

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Byung Yoon Choi, Andrew K. Stewart, Anne C. Madeo, Shannon P. Pryor, Suzanne Lenhard, Rick Kittles, David Eisenman, H. Jeffrey Kim, John Niparko, James Thomsen, Kathleen S. Arnos, Walter E. Nance, Kelly A. King, Christopher K. Zalewski, Carmen C. Brewer, Thomas Shawker, James C. Reynolds, John A. Butman, Lawrence P. Karniski, Seth L. Alper, Andrew J. Griffith

Hum Mutat. Author manuscript; available in PMC 2010 Apr 1.

Published in final edited form as: Hum Mutat. 2009 Apr; 30(4): 599–608. doi: 10.1002/humu.20884

PMCID:: PMC2663020

Abstract Article PDF–703K

Select item 17359744.

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

S Pryor, A Madeo, J Reynolds, N Sarlis, K Arnos, W Nance, Y Yang, C Zalewski, C Brewer, J Butman, A Griffith

J Med Genet. 2005 Feb; 42(2): 159–165. doi: 10.1136/jmg.2004.024208

PMCID:: PMC1735974

Summary PDF–99K

Select item 17354325.

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

H Park, S Shaukat, X Liu, S Hahn, S Naz, M Ghosh, H Kim, S Moon, S Abe, K Tukamoto, S Riazuddin, M Kabra, R Erdenetungalag, J Radnaabazar, S Khan, A Pandya, S Usami, W Nance, E Wilcox, S Riazuddin, A Griffith

J Med Genet. 2003 Apr; 40(4): 242–248. doi: 10.1136/jmg.40.4.242

PMCID:: PMC1735432

Summary PDF–254K

Select item 70141026.

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

Ludovica Liguori, Maria Monticelli, Mariateresa Allocca, Bruno Hay Mele, Jan Lukas, Maria Vittoria Cubellis, Giuseppina Andreotti

Int J Mol Sci. 2020 Jan; 21(2): 489. Published online 2020 Jan 13. doi: 10.3390/ijms21020489

PMCID:: PMC7014102

Abstract Article PDF–2.5M

Select item 60289577.

The extracellular loop of pendrin and prestin modulates their voltage-sensing property

Makoto F. Kuwabara, Koichiro Wasano, Satoe Takahashi, Justin Bodner, Tomotaka Komori, Sotaro Uemura, Jing Zheng, Tomohiro Shima, Kazuaki Homma

J Biol Chem. 2018 Jun 29; 293(26): 9970–9980. Published online 2018 May 18. doi: 10.1074/jbc.RA118.001831

PMCID:: PMC6028957

Abstract Article PDF–3.8M

Select item 56506698.

THE CONCISE GUIDE TO PHARMACOLOGY 2017/18: Transporters

Stephen PH Alexander, Eamonn Kelly, Neil V Marrion, John A Peters, Elena Faccenda, Simon D Harding, Adam J Pawson, Joanna L Sharman, Christopher Southan, Jamie A Davies, CGTP Collaborators

Br J Pharmacol. 2017 Dec; 174(Suppl Suppl 1): S360–S446. Published online 2017 Oct 21. doi: 10.1111/bph.13883

PMCID:: PMC5650669

Abstract Article PDF–1.7M

Select item 56139299.

Human SLC26A4/Pendrin STAS domain is a nucleotide-binding protein: Refolding and characterization for structural studies

Alok K. Sharma, Tobias Krieger, Alan C. Rigby, Israel Zelikovic, Seth L. Alper

Biochem Biophys Rep. 2016 Dec; 8: 184–191. Published online 2016 Aug 26. doi: 10.1016/j.bbrep.2016.08.022

PMCID:: PMC5613929

Abstract Article PDF–1.4M

Select item 535488410.

Targeted proteomics in urinary extracellular vesicles identifies biomarkers for diagnosis and prognosis of prostate cancer

Tamara Sequeiros, Marina Rigau, Cristina Chiva, Melania Montes, Iolanda Garcia-Grau, Marta Garcia, Sherley Diaz, Ana Celma, Irene Bijnsdorp, Alex Campos, Primiano Di Mauro, Salvador Borrós, Jaume Reventós, Andreas Doll, Rosanna Paciucci, Michiel Pegtel, Inés de Torres, Eduard Sabidó, Juan Morote, Mireia Olivan

Oncotarget. 2017 Jan 17; 8(3): 4960–4976. Published online 2016 Nov 26. doi: 10.18632/oncotarget.13634

PMCID:: PMC5354884

Abstract Article PDF–5.0M

Select item 473111611.

Activation of the Endogenous Renin-Angiotensin-Aldosterone System or Aldosterone Administration Increases Urinary Exosomal Sodium Channel Excretion

Ying Qi, Xiaojing Wang, Kristie L. Rose, W. Hayes MacDonald, Bing Zhang, Kevin L. Schey, James M. Luther

J Am Soc Nephrol. 2016 Feb; 27(2): 646–656. Published online 2015 Jun 25. doi: 10.1681/ASN.2014111137

PMCID:: PMC4731116

Abstract Article

Select item 471821512.

The Concise Guide to PHARMACOLOGY 2015/16: Transporters

Stephen PH Alexander, Eamonn Kelly, Neil Marrion, John A Peters, Helen E Benson, Elena Faccenda, Adam J Pawson, Joanna L Sharman, Christopher Southan, Jamie A Davies, CGTP Collaborators

Br J Pharmacol. 2015 Dec; 172(24): 6110–6202. Published online 2015 Dec 9. doi: 10.1111/bph.13355

PMCID:: PMC4718215

Abstract Article PDF–2.0M

Select item 425094613.

Genotyping Data and Novel Haplotype Diversity of STR Markers in the SLC26A4 Gene Region in Five Ethnic Groups of the Iranian Population

Marjan Mojtabavi Naeini, Hamzeh Mesrian Tanha, Morteza Hashemzadeh Chaleshtori, Sadeq Vallian

Genet Test Mol Biomarkers. 2014 Dec 1; 18(12): 820–825. doi: 10.1089/gtmb.2014.0178

PMCID:: PMC4250946

Abstract Article PDF–230K

Select item 389229214.

The Concise Guide to Pharmacology 2013/14: Transporters

Stephen PH Alexander, Helen E Benson, Elena Faccenda, Adam J Pawson, Joanna L Sharman, Michael Spedding, John A Peters, Anthony J Harmar

Br J Pharmacol. 2013 Dec; 170(8): 1706–1796. Published online 2013 Dec 17. doi: 10.1111/bph.12450

PMCID:: PMC3892292

Abstract Article PDF–1.6M

Select item 157035215.

Identification of new participants in the rainbow trout (Oncorhynchus mykiss) oocyte maturation and ovulation processes using cDNA microarrays

Julien Bobe, Jerôme Montfort, Thaovi Nguyen, Alexis Fostier

Reprod Biol Endocrinol. 2006; 4: 39. Published online 2006 Jul 27. doi: 10.1186/1477-7827-4-39

PMCID:: PMC1570352

Abstract Article PDF–608K

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