Full text in PMC (nucleotide) for Gene (Select 3418) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 100

<< First< Prev

Page of 5

Select item 70271951.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Abstract Article PDF–1.2M

Select item 70199022.

Highly Sensitive Detection of IDH2 Mutations in Acute Myeloid Leukemia

Jessica Petiti, Valentina Rosso, Eleonora Croce, Vanessa Franceschi, Giacomo Andreani, Matteo Dragani, Marco De Gobbi, Monia Lunghi, Giuseppe Saglio, Carmen Fava, Marco Lo Iacono, Daniela Cilloni

J Clin Med. 2020 Jan; 9(1): 271. Published online 2020 Jan 19. doi: 10.3390/jcm9010271

PMCID:: PMC7019902

Abstract Article PDF–2.0M

Select item 69805713.

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design

Almudena Aguilera-Diaz, Iria Vazquez, Beñat Ariceta, Amagoia Mañú, Zuriñe Blasco-Iturri, Sara Palomino-Echeverría, María José Larrayoz, Ramón García-Sanz, María Isabel Prieto-Conde, María del Carmen Chillón, Ana Alfonso-Pierola, Felipe Prosper, Marta Fernandez-Mercado, María José Calasanz

PLoS One. 2020; 15(1): e0227986. Published online 2020 Jan 24. doi: 10.1371/journal.pone.0227986

PMCID:: PMC6980571

Abstract Article PDF–2.0M

Select item 69667094.

SEL1L plays a major role in human malignant gliomas

Marta Mellai, Laura Annovazzi, Renzo Boldorini, Luca Bertero, Paola Cassoni, Pasquale De Blasio, Ida Biunno, Davide Schiffer

J Pathol Clin Res. 2020 Jan; 6(1): 17–29. Published online 2019 Sep 30. doi: 10.1002/cjp2.134

PMCID:: PMC6966709

Abstract Article PDF–4.8M

Select item 68889445.

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh

Orphanet J Rare Dis. 2019; 14: 277. Published online 2019 Dec 2. doi: 10.1186/s13023-019-1249-4

PMCID:: PMC6888944

Abstract Article PDF–991K

Select item 68861256.

Glutamine Anabolism Plays a Critical Role in Pancreatic Cancer by Coupling Carbon and Nitrogen Metabolism

Alex J. Bott, Jianliang Shen, Claudia Tonelli, Le Zhan, Nithya Sivaram, Ya-Ping Jiang, Xufen Yu, Vrushank Bhatt, Eric Chiles, Hua Zhong, Sara Maimouni, Weiwei Dai, Stephani Velasquez, Ji-An Pan, Nathiya Muthalagu, Jennifer Morton, Tracy G. Anthony, Hui Feng, Wouter H. Lamers, Daniel J. Murphy, Jessie Yanxiang Guo, Jian Jin, Howard C. Crawford, Lanjing Zhang, Eileen White, Richard Z. Lin, Xiaoyang Su, David A. Tuveson, Wei-Xing Zong

Cell Rep. Author manuscript; available in PMC 2019 Dec 2.

Published in final edited form as: Cell Rep. 2019 Oct 29; 29(5): 1287–1298.e6. doi: 10.1016/j.celrep.2019.09.056

PMCID:: PMC6886125

Abstract Article PDF–2.6M

Select item 67855287.

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

Muhammad M. Rahman, KM Furkan Uddin, Nesreen K. Al Jezawi, Noushad Karuvantevida, Hosneara Akter, Nushrat J. Dity, Md. Ashiquir Rahaman, Maksuda Begum, Md. Atikur Rahaman, Md. Abdul Baqui, Zeena Salwa, Serajul Islam, Marc Woodbury‐Smith, Mohammed Basiruzzaman, Mohammed Uddin

Mol Genet Genomic Med. 2019 Oct; 7(10): e00954. Published online 2019 Sep 1. doi: 10.1002/mgg3.954

PMCID:: PMC6785528

Abstract Article PDF–830K

Select item 67322848.

Impact of CHRNA5 polymorphisms on the risk of schizophrenia in the Chinese Han population

Dafei Zhan, Qiankun Yao, Shaojian Fu, Xianglai Liu, Jun Zhou, Daqiang Chen, Chuanlong Yu

Mol Genet Genomic Med. 2019 Sep; 7(9): e869. Published online 2019 Jul 24. doi: 10.1002/mgg3.869

PMCID:: PMC6732284

Abstract Article PDF–575K

Select item 67322699.

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk, John Hicks, Roman Polishchuk, Carlos A. Bacino, Nicola Brunetti‐Pierri

Mol Genet Genomic Med. 2019 Sep; 7(9): e844. Published online 2019 Jul 27. doi: 10.1002/mgg3.844

PMCID:: PMC6732269

Abstract Article PDF–1.4M

Select item 670268710.

Different gene expression profiles in subcutaneous & visceral adipose tissues from Mexican patients with obesity

María D. Ronquillo, Alla Mellnyk, Noemí Cárdenas-Rodríguez, Emmanuel Martínez, David A. Comoto, Liliana Carmona-Aparicio, Norma E. Herrera, Eleazar Lara, Armando Pereyra, Esaú Floriano-Sánchez

Indian J Med Res. 2019 May; 149(5): 616–626. doi: 10.4103/ijmr.IJMR_1165_17

PMCID:: PMC6702687

Abstract Article PDF–1.3M

Select item 668812411.

Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H₂O₂ Generation

Shiguo Liu, Wenxiu Han, Yucui Zang, Hongwei Zang, Fang Wang, Pei Jiang, Hongwei Wei, Xiangju Liu, Yangang Wang, Xu Ma, Yinlin Ge

Front Endocrinol (Lausanne) 2019; 10: 526. Published online 2019 Aug 2. doi: 10.3389/fendo.2019.00526

PMCID:: PMC6688124

Abstract Article PDF–5.7M

Select item 666070012.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 662781213.

Design and Validation of a Gene-Targeted, Next-Generation Sequencing Panel for Routine Diagnosis in Gliomas

Nicky D’Haene, Bárbara Meléndez, Oriane Blanchard, Nancy De Nève, Laetitia Lebrun, Claude Van Campenhout, Isabelle Salmon

Cancers (Basel) 2019 Jun; 11(6): 773. Published online 2019 Jun 4. doi: 10.3390/cancers11060773

PMCID:: PMC6627812

Abstract Article PDF–1.2M

Select item 662514714.

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

Ye Lin, Xihui Chen, Ying Yang, Fengyu Che, Sijia Zhang, Lijuan Yuan, Yuanming Wu

Mol Genet Genomic Med. 2019 Jul; 7(7): e00687. Published online 2019 Jun 14. doi: 10.1002/mgg3.687

PMCID:: PMC6625147

Abstract Article PDF–1.0M

Select item 661414015.

IDH Mutation Analysis in Glioma Patients by CADMA Compared with SNaPshot Assay and two Immunohistochemical Methods

Irena Urbanovska, Magdalena Houdova Megova, Zachary Dwight, Ondrej Kalita, Magdalena Uvirova, Jarmila Simova, Lucie Tuckova, Petr Buzrla, Tomas Palecek, Marian Hajduch, Jana Dvorackova, Jiri Drabek

Pathol Oncol Res. 2019; 25(3): 971–978. Published online 2018 Mar 19. doi: 10.1007/s12253-018-0413-9

PMCID:: PMC6614140

Abstract Article PDF–826K

Select item 659408116.

Integrative Analysis Defines Distinct Prognostic Subgroups of Intrahepatic Cholangiocarcinoma

Benjamin Goeppert, Reka Toth, Stephan Singer, Thomas Albrecht, Daniel B. Lipka, Pavlo Lutsik, David Brocks, Marion Baehr, Oliver Muecke, Yassen Assenov, Lei Gu, Volker Endris, Albrecht Stenzinger, Arianeb Mehrabi, Peter Schirmacher, Christoph Plass, Dieter Weichenhan, Stephanie Roessler

Hepatology. 2019 May; 69(5): 2091–2106. Published online 2019 Feb 28. doi: 10.1002/hep.30493

PMCID:: PMC6594081

Abstract Article PDF–1.0M

Select item 636336117.

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region

Delanie B. Macedo, Monica M. França, Luciana R. Montenegro, Marina Cunha-Silva, Danielle S. Best, Ana Paula Abreu, Ursula B. Kaiser, Berenice B. Mendonca, Alexander A.L. Jorge, Vinicius N. Brito, Ana Claudia Latronico

Neuroendocrinology. Author manuscript; available in PMC 2019 Feb 5.

Published in final edited form as: Neuroendocrinology. 2018; 107(2): 127–132. Published online 2018 May 15. doi: 10.1159/000490059

PMCID:: PMC6363361

Abstract Article PDF–471K

Select item 632764118.

Identification of differentially expressed non-coding RNAs and mRNAs involved in Qi stagnation and blood stasis syndrome

Guang Chen, Jialiang Gao, Haoqiang He, Chao Liu, Yongmei Liu, Jun Li, Jie Wang

Exp Ther Med. 2019 Feb; 17(2): 1206–1223. Published online 2018 Dec 7. doi: 10.3892/etm.2018.7068

PMCID:: PMC6327641

Abstract Article PDF–3.7M

Select item 631182319.

Preserved Expression of Skin Neurotrophic Factors in Advanced Diabetic Neuropathy Does Not Lead to Neural Regeneration despite Pancreas and Kidney Transplantation

František Saudek, Monika Cahová, Terezie Havrdová, Klára Zacharovová, Helena Daňková, Luděk Voska, Věra Lánská, Nurcan Üçeyler, Claudia Sommer

J Diabetes Res. 2018; 2018: 2309108. Published online 2018 Dec 10. doi: 10.1155/2018/2309108

PMCID:: PMC6311823

Abstract Article PDF–914K

Select item 626085220.

EIF4A3-induced circular RNA MMP9 (circMMP9) acts as a sponge of miR-124 and promotes glioblastoma multiforme cell tumorigenesis

Renjie Wang, Sai Zhang, Xuyi Chen, Nan Li, Jianwei Li, Ruichao Jia, Yuanqing Pan, Haiqian Liang

Mol Cancer. 2018; 17: 166. Published online 2018 Nov 23. doi: 10.1186/s12943-018-0911-0

Correction in:: Mol Cancer. 2020; 19: 153.

PMCID:: PMC6260852

Abstract Article PDF–7.1M

<< First< Prev

Page of 5

Next >Last >>

Supplemental Content

Filter your results:

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

Full text in PMC (nucleotide) for Gene (Select 3418) (100)
PMC
RecName: Full=Isocitrate dehydrogenase [NADP], mitochondrial; Short=IDH; AltName...
RecName: Full=Isocitrate dehydrogenase [NADP], mitochondrial; Short=IDH; AltName: Full=ICD-M; AltName: Full=IDP; AltName: Full=NADP(+)-specific ICDH; AltName: Full=Oxalosuccinate decarboxylase; Flags: Precursor
gi|20141568|sp|P48735.2|IDHP_HUMAN

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to: