PMC Articles for MedGen (Select 902781) - PMC

Abhishek A. Mangaonkar, Terra L. Lasho, Rhett P. Ketterling, Kaaren K. Reichard, Naseema Gangat, Aref Al-Kali, Kebede H. Begna, Animesh Pardanani, Najla H. Al Ali, Chetasi Talati, David Sallman, Eric Padron, Mrinal M. Patnaik, Ayalew Tefferi, Rami Komrokji

Blood Cancer J. 2022 Feb; 12(2): 26. Published online 2022 Feb 1. doi: 10.1038/s41408-022-00622-8

PMCID:: PMC8807827

Abstract Article PDF–1.0M

Select item 86865804.

X-linked sideroblastic anaemia in a female fetus: a case report and a literature review

Diane Nzelu, Panicos Shangaris, Lisa Story, Frances Smith, Chinthika Piyasena, Jayanthi Alamelu, Amira Elmakky, Maria Pelidis, Rachel Mayhew, Srividhya Sankaran

BMC Med Genomics. 2021; 14: 296. Published online 2021 Dec 20. doi: 10.1186/s12920-021-01146-z

PMCID:: PMC8686580

Abstract Article PDF–1010K

Select item 77856295.

Evolution of the human mitochondrial ABCB7 [2Fe–2S](GS)₄ cluster exporter and the molecular mechanism of an E433K disease-causing mutation

Stephen A. Pearson, J.A. Cowan

Arch Biochem Biophys. Author manuscript; available in PMC 2022 Jan 15.

Published in final edited form as: Arch Biochem Biophys. 2021 Jan 15; 697: 108661. Published online 2020 Nov 3. doi: 10.1016/j.abb.2020.108661

PMCID:: PMC7785629

Abstract Article PDF–1.2M

Select item 73897316.

儿童铁粒幼红细胞贫血的临床特征及基因突变谱分析

安文彬, 刘超, 万扬, 郭晔, 王书春, 张英驰, 竺晓凡

Zhongguo Dang Dai Er Ke Za Zhi. 2019 Oct 25; 21(10): 1016–1021. Chinese. doi: 10.7499/j.issn.1008-8830.2019.10.012

PMCID:: PMC7389731

Abstract Article PDF–1.4M

Select item 69118267.

Results of a Pilot Study of Isoniazid in Patients with Erythropoietic Protoporphyria

Charles J. Parker, Robert J. Desnick, Montgomery D. Bissel, Joseph R. Bloomer, Ashwani Singal, Laurent Gouya, Herve Puy, Karl E. Anderson, Manisha Balwani, John D. Phillips

Mol Genet Metab. Author manuscript; available in PMC 2020 Nov 1.

Published in final edited form as: Mol Genet Metab. 2019 Nov; 128(3): 309–313. Published online 2019 Jul 31. doi: 10.1016/j.ymgme.2019.07.017

PMCID:: PMC6911826

Abstract Article PDF–332K

Select item 63449998.

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

Vassili Tchaikovskii, Robert J. Desnick, David F. Bishop

Mol Med. 2019; 25: 4. Published online 2019 Jan 24. doi: 10.1186/s10020-019-0070-9

PMCID:: PMC6344999

Abstract Article PDF–1016K

Select item 58906299.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors

Angeliki Giannelou, Hongying Wang, Qing Zhou, Yong Hwan Park, Mones S Abu-Asab, Kris Ylaya, Deborah L Stone, Anna Sediva, Rola Sleiman, Lucie Sramkova, Deepika Bhatla, Elisavet Serti, Wanxia Li Tsai, Dan Yang, Kevin Bishop, Blake Carrington, Wuhong Pei, Natalie Deuitch, Stephen Brooks, Jehad H Edwan, Sarita Joshi, Seraina Prader, Daniela Kaiser, William C Owen, Abdullah Al Sonbul, Yu Zhang, Julie E Niemela, Shawn M Burgess, Manfred Boehm, Barbara Rehermann, JaeJin Chae, Martha M Quezado, Amanda K Ombrello, Rebecca H Buckley, Alexi A Grom, Elaine F Remmers, Jana M Pachlopnik, Helen C Su, Gustavo Gutierrez-Cruz, Stephen M Hewitt, Raman Sood, Kimberly Risma, Katherine R Calvo, Sergio D Rosenzweig, Massimo Gadina, Markus Hafner, Hong-Wei Sun, Daniel L Kastner, Ivona Aksentijevich

Ann Rheum Dis. 2018 Apr; 77(4): 612–619. Published online 2018 Jan 22. doi: 10.1136/annrheumdis-2017-212401

PMCID:: PMC5890629

Abstract Article PDF–7.5M

Select item 500543810.

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

Nathalie Chami, Ming-Huei Chen, Andrew J. Slater, John D. Eicher, Evangelos Evangelou, Salman M. Tajuddin, Latisha Love-Gregory, Tim Kacprowski, Ursula M. Schick, Akihiro Nomura, Ayush Giri, Samuel Lessard, Jennifer A. Brody, Claudia Schurmann, Nathan Pankratz, Lisa R. Yanek, Ani Manichaikul, Raha Pazoki, Evelin Mihailov, W. David Hill, Laura M. Raffield, Amber Burt, Traci M. Bartz, Diane M. Becker, Lewis C. Becker, Eric Boerwinkle, Jette Bork-Jensen, Erwin P. Bottinger, Michelle L. O’Donoghue, David R. Crosslin, Simon de Denus, Marie-Pierre Dubé, Paul Elliott, Gunnar Engström, Michele K. Evans, James S. Floyd, Myriam Fornage, He Gao, Andreas Greinacher, Vilmundur Gudnason, Torben Hansen, Tamara B. Harris, Caroline Hayward, Jussi Hernesniemi, Heather M. Highland, Joel N. Hirschhorn, Albert Hofman, Marguerite R. Irvin, Mika Kähönen, Ethan Lange, Lenore J. Launer, Terho Lehtimäki, Jin Li, David C.M. Liewald, Allan Linneberg, Yongmei Liu, Yingchang Lu, Leo-Pekka Lyytikäinen, Reedik Mägi, Rasika A. Mathias, Olle Melander, Andres Metspalu, Nina Mononen, Mike A. Nalls, Deborah A. Nickerson, Kjell Nikus, Chris J. O’Donnell, Marju Orho-Melander, Oluf Pedersen, Astrid Petersmann, Linda Polfus, Bruce M. Psaty, Olli T. Raitakari, Emma Raitoharju, Melissa Richard, Kenneth M. Rice, Fernando Rivadeneira, Jerome I. Rotter, Frank Schmidt, Albert Vernon Smith, John M. Starr, Kent D. Taylor, Alexander Teumer, Betina H. Thuesen, Eric S. Torstenson, Russell P. Tracy, Ioanna Tzoulaki, Neil A. Zakai, Caterina Vacchi-Suzzi, Cornelia M. van Duijn, Frank J.A. van Rooij, Mary Cushman, Ian J. Deary, Digna R. Velez Edwards, Anne-Claire Vergnaud, Lars Wallentin, Dawn M. Waterworth, Harvey D. White, James G. Wilson, Alan B. Zonderman, Sekar Kathiresan, Niels Grarup, Tõnu Esko, Ruth J.F. Loos, Leslie A. Lange, Nauder Faraday, Nada A. Abumrad, Todd L. Edwards, Santhi K. Ganesh, Paul L. Auer, Andrew D. Johnson, Alexander P. Reiner, Guillaume Lettre

Am J Hum Genet. 2016 Jul 7; 99(1): 8–21. Published online 2016 Jun 23. doi: 10.1016/j.ajhg.2016.05.007

PMCID:: PMC5005438

Abstract Article PDF–699K

Select item 492986511.

Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

Maria S Protasova, Anastasia P Grigorenko, Tatiana V Tyazhelova, Tatiana V Andreeva, Denis A Reshetov, Fedor E Gusev, Alexander E Laptenko, Irina L Kuznetsova, Andrey Y Goltsov, Sergey A Klyushnikov, Sergey N Illarioshkin, Evgeny I Rogaev

Eur J Hum Genet. 2016 Apr; 24(4): 550–555. Published online 2015 Aug 5. doi: 10.1038/ejhg.2015.139

PMCID:: PMC4929865

Abstract Article PDF–1.5M

Select item 454209812.

GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders

Matthias Griese, Ralf Zarbock, Ulrich Costabel, Jenna Hildebrandt, Dirk Theegarten, Michael Albert, Antonia Thiel, Andrea Schams, Joanna Lange, Katazyrna Krenke, Traudl Wesselak, Carola Schön, Matthias Kappler, Helmut Blum, Stefan Krebs, Andreas Jung, Carolin Kröner, Christoph Klein, Ilaria Campo, Maurizio Luisetti, Francesco Bonella

BMC Pulm Med. 2015; 15: 87. Published online 2015 Aug 12. doi: 10.1186/s12890-015-0083-2

PMCID:: PMC4542098

Abstract Article PDF–1.0M

Select item 291404713.

Identification of protein-coding and non-coding RNA expression profiles in CD34⁺and in stromal cells in refractory anemia with ringed sideroblasts

Mariana O Baratti, Yuri B Moreira, Fabiola Traina, Fernando F Costa, Sergio Verjovski-Almeida, Sara T Olalla-Saad

BMC Med Genomics. 2010; 3: 30. Published online 2010 Jul 15. doi: 10.1186/1755-8794-3-30

PMCID:: PMC2914047

Abstract Article PDF–3.7M

Select item 202498314.

Human preleukaemia cell culture studies in sideroblastic anaemia.

J. S. Senn, P. H. Pinkerton, G. B. Price, T. W. Mak, E. A. McCulloch

Br J Cancer. 1976 Mar; 33(3): 299–306. doi: 10.1038/bjc.1976.43

PMCID:: PMC2024983

Summary Page Browse PDF–1.0M

Select item 168274415.

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

M A McShane, S R Hammans, M Sweeney, I J Holt, T J Beattie, E M Brett, A E Harding

Am J Hum Genet. 1991 Jan; 48(1): 39–42.

PMCID:: PMC1682744

Summary Page Browse PDF–718K

Select item 104974516.

Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.

P E Jardine, P D Cotter, S A Johnson, E J Fitzsimons, L Tyfield, P W Lunt, D F Bishop

J Med Genet. 1994 Mar; 31(3): 213–218. doi: 10.1136/jmg.31.3.213

PMCID:: PMC1049745

Summary Page Browse PDF–1.1M

Select item 1104916317.

Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart Review

Shamim Mortuza, Benjamin Chin-Yee, Tyler E. James, Ian H. Chin-Yee, Benjamin D. Hedley, Jenny M. Ho, Lalit Saini, Alejandro Lazo-Langner, Laila Schenkel, Pratibha Bhai, Bekim Sadikovic, Jonathan Keow, Nikhil Sangle, Cyrus C. Hsia

Curr Oncol. 2024 Apr; 31(4): 1762–1773. Published online 2024 Mar 29. doi: 10.3390/curroncol31040134

PMCID:: PMC11049163

Abstract Article PDF–788K

Select item 1091562618.

Pseudouridine synthase 1 regulates erythropoiesis via transfer RNAs pseudouridylation and cytoplasmic translation

Deyang Shi, Bichen Wang, Haoyuan Li, Yu Lian, Qiuyi Ma, Tong Liu, Mutian Cao, Yuanwu Ma, Lei Shi, Weiping Yuan, Jun Shi, Yajing Chu

iScience. 2024 Mar 15; 27(3): 109265. Published online 2024 Feb 17. doi: 10.1016/j.isci.2024.109265

PMCID:: PMC10915626

Abstract Article PDF–6.3M

Select item 983414719.

Recurrent sideroblastic anemia during pregnancy

Shehab Mohamed, Firyal Ibrahim, Mohamad Najib Alasafar, Awni Alshurafa, Susanna Akiki, Dina Soliman, Samah Kohla, Aliaa Amer, Hana Qasim, Honar Cherif

Clin Case Rep. 2023 Jan; 11(1): e6814. Published online 2023 Jan 11. doi: 10.1002/ccr3.6814

PMCID:: PMC9834147

Abstract Article PDF–733K

Select item 896901920.

Case Report: Clinical and Hematological Characteristics of εγδβ Thalassemia in an Italian Patient

Ilaria Fotzi, Francesco Pegoraro, Elena Chiocca, Tommaso Casini, Massimo Mogni, Marinella Veltroni, Claudio Favre

Front Pediatr. 2022; 10: 839775. Published online 2022 Mar 17. doi: 10.3389/fped.2022.839775

PMCID:: PMC8969019

Abstract Article PDF–1.2M

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