Full text in PMC (nucleotide) for Gene (Select 2566) - PMC

Bálint Szeder, Júlia Tárnoki-Zách, Dóra Lakatos, Virág Vas, Gyöngyi Kudlik, Balázs Merő, Kitti Koprivanacz, László Bányai, Lilla Hámori, Gergely Róna, András Czirók, András Füredi, László Buday

Cells. 2019 Nov; 8(11): 1343. Published online 2019 Oct 29. doi: 10.3390/cells8111343

PMCID:: PMC6912613

Abstract Article PDF–2.8M

Select item 68836275.

Validation of an epigenetic field of susceptibility to detect significant prostate cancer from non-tumor biopsies

Bing Yang, Tyler Etheridge, Johnathon McCormick, Adam Schultz, Tariq A. Khemees, Nathan Damaschke, Glen Leverson, Kaitlin Woo, Geoffrey A. Sonn, Eric A. Klein, Mike Fumo, Wei Huang, David F. Jarrard

Clin Epigenetics. 2019; 11: 168. Published online 2019 Nov 28. doi: 10.1186/s13148-019-0771-5

PMCID:: PMC6883627

Abstract Article PDF–807K

Select item 68578936.

Methionine Synthase Reductase-A66G and -C524T Single Nucleotide Polymorphisms and Prostate Cancer: A Case-Control Trial

Atefeh Basir

Asian Pac J Cancer Prev. 2019; 20(5): 1445–1451. doi: 10.31557/APJCP.2019.20.5.1445

PMCID:: PMC6857893

Abstract Article PDF–720K

Select item 68562967.

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza

Front Neurosci. 2019; 13: 1135. Published online 2019 Nov 8. doi: 10.3389/fnins.2019.01135

PMCID:: PMC6856296

Abstract Article PDF–1.7M

Select item 67295328.

A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline

Kazusaku Kamiya, Makoto Kaneda, Takashi Sugawara, Emi Mazaki, Nami Okamura, Mauricio Montal, Naomasa Makita, Masaki Tanaka, Katsuyuki Fukushima, Tateki Fujiwara, Yushi Inoue, Kazuhiro Yamakawa

J Neurosci. 2004 Mar 17; 24(11): 2690–2698. doi: 10.1523/JNEUROSCI.3089-03.2004

PMCID:: PMC6729532

Abstract Article PDF–416K

Select item 67213859.

Anoctamin 3: A Possible Link between Cluster Headache and Ca²⁺ Signaling

Caroline Ran, Carmen Fourier, Donia Arafa, Franziska Liesecke, Christina Sjöstrand, Elisabet Waldenlind, Anna Steinberg, Andrea Carmine Belin

Brain Sci. 2019 Aug; 9(8): 184. Published online 2019 Jul 30. doi: 10.3390/brainsci9080184

PMCID:: PMC6721385

Abstract Article PDF–786K

Select item 669638610.

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

Francesca Cogliati, Valentina Giorgini, Maura Masciadri, Maria Teresa Bonati, Margherita Marchi, Irene Cracco, Davide Gentilini, Angela Peron, Miriam Nella Savini, Luigina Spaccini, Barbara Scelsa, Silvia Maitz, Edvige Veneselli, Giulia Prato, Maria Pintaudi, Isabella Moroni, Aglaia Vignoli, Lidia Larizza, Silvia Russo

Int J Mol Sci. 2019 Aug; 20(15): 3621. Published online 2019 Jul 24. doi: 10.3390/ijms20153621

PMCID:: PMC6696386

Abstract Article PDF–1.2M

Select item 668764511.

TSLP and TSLP receptors variants are associated with smoking

Abdelhabib Semlali, Mikhlid Almutairi, Arezki Azzi, Narasimha Reddy Parine, Abdullah AlAmri, Saleh Alsulami, Talal Meshal Alumri, Mohammad Saud Alanazi, Mahmoud Rouabhia

Mol Genet Genomic Med. 2019 Aug; 7(8): e842. Published online 2019 Jul 9. doi: 10.1002/mgg3.842

PMCID:: PMC6687645

Abstract Article PDF–890K

Select item 662514712.

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 661377613.

The lncRNA RMEL3 protects immortalized cells from serum withdrawal-induced growth arrest and promotes melanoma cell proliferation and tumor growth

Cibele Cardoso, Rodolfo B. Serafim, Akinori Kawakami, Cristiano Gonçalves Pereira, Vinicius L. Vazquez, Valeria Valente, David E. Fisher, Enilza M. Espreafico

Pigment Cell Melanoma Res. Author manuscript; available in PMC 2019 Jul 8.

Published in final edited form as: Pigment Cell Melanoma Res. 2019 Mar; 32(2): 303–314. Published online 2018 Dec 16. doi: 10.1111/pcmr.12751

Correction in:: Pigment Cell Melanoma Res. 2020 May; 33(3): 520.

PMCID:: PMC6613776

Abstract Article PDF–1.4M

Select item 660341614.

MiR-HCC2 Up-regulates BAMBI and ELMO1 Expression to Facilitate the Proliferation and EMT of Hepatocellular Carcinoma Cells

Jianying Yi, Yajie Fan, Le Zhang, Hong Wang, Ting Mu, Hong Xie, Huijie Gao, Min Liu, Shengping Li, Hua Tang

J Cancer. 2019; 10(15): 3407–3419. Published online 2019 Jun 9. doi: 10.7150/jca.30858

Correction in:: J Cancer. 2021; 12(20): 6285–6288.

PMCID:: PMC6603416

Abstract Article PDF–2.5M

Select item 659862615.

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

Michael Flower, Vilija Lomeikaite, Marc Ciosi, Sarah Cumming, Fernando Morales, Kitty Lo, Davina Hensman Moss, Lesley Jones, Peter Holmans, Darren G Monckton, Sarah J Tabrizi, TRACK-HD Investigators , OPTIMISTIC Consortium

Brain. 2019 Jul; 142(7): 1876–1886. Published online 2019 Jun 19. doi: 10.1093/brain/awz115

PMCID:: PMC6598626

Abstract Article PDF–684K

Select item 650301316.

Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China

Chan Zhang, Weiwei Guo, Yujing Cheng, Qi Li, Xin Yang, Run Dai, Linhao Zhu, Wanlu Chen

Mol Genet Genomic Med. 2019 May; 7(5): e574. Published online 2019 Apr 5. doi: 10.1002/mgg3.574

PMCID:: PMC6503013

Abstract Article PDF–1.2M

Select item 646573017.

Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids

Torsten Kraya, Dagmar Quandt, Thorsten Pfirrmann, Andrea Kindermann, Leonie Lampe, Matthias L. Schroeter, Jürgen Kohlhase, Dietrich Stoevesandt, Katrin Hoffmann, Pablo Villavicencio‐Lorini

Mol Genet Genomic Med. 2019 Apr; 7(4): e00595. Published online 2019 Feb 6. doi: 10.1002/mgg3.595

PMCID:: PMC6465730

Abstract Article PDF–879K

Select item 646566518.

Association between IL‐4 tagging single nucleotide polymorphisms and the risk of lung cancer in China

Nan Tan, Jiangjiang Song, Mengdan Yan, Jiamin Wu, Yao Sun, Zichao Xiong, Yipeng Ding

Mol Genet Genomic Med. 2019 Apr; 7(4): e00585. Published online 2019 Feb 6. doi: 10.1002/mgg3.585

PMCID:: PMC6465665

Abstract Article PDF–467K

Select item 641836319.

Interaction of germline variants in a family with a history of early‐onset clear cell renal cell carcinoma

Emmanuelle Nicolas, Elena V. Demidova, Waleed Iqbal, Ilya G. Serebriiskii, Ramilia Vlasenkova, Pooja Ghatalia, Yan Zhou, Kim Rainey, Andrea F. Forman, Roland L. Dunbrack, Jr, Erica A. Golemis, Michael J. Hall, Mary B. Daly, Sanjeevani Arora

Mol Genet Genomic Med. 2019 Mar; 7(3): e556. Published online 2019 Jan 24. doi: 10.1002/mgg3.556

PMCID:: PMC6418363

Abstract Article PDF–1.8M

Select item 638276220.

The germ cell marker dead end reveals alternatively spliced transcripts with dissimilar expression

Ana Carina Nogueira Vasconcelos, Danilo Pedro Streit, Jr., Anna Octavera, Misako Miwa, Naoki Kabeya, Goro Yoshizaki

Sci Rep. 2019; 9: 2407. Published online 2019 Feb 20. doi: 10.1038/s41598-019-39101-9

PMCID:: PMC6382762

Abstract Article PDF–3.4M

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