Full text in PMC (nucleotide) for Gene (Select 54681) - PMC

Howeida Abdullah Mustafa, Afraa Mohamed Suliman Albkrye, Buthiena Mohamed AbdAlla, Mona AbdelRahman Mohammed Khair, Nidal Abdelwahid, Hind Abdelaziz Elnasri

Clin Transl Med. 2020; 9: 7. Published online 2020 Feb 17. doi: 10.1186/s40169-020-0258-1

PMCID:: PMC7024687

Abstract Article PDF–3.2M

Select item 70107004.

Investigation of DNA variants specific to ROBO2 Isoform ‘a’ in Irish vesicoureteric reflux patients reveals marked CpG island variation

John M. Darlow, Mark G. Dobson, Andrew J. Green, Prem Puri, David E. Barton

Sci Rep. 2020; 10: 2265. Published online 2020 Feb 10. doi: 10.1038/s41598-020-58818-6

PMCID:: PMC7010700

Abstract Article PDF–1.1M

Select item 69003935.

Gene‐level genome‐wide association analysis of suicide attempt, a preliminary study in a psychiatric Mexican population

Thelma Beatriz González‐Castro, José Jaime Martínez‐Magaña, Carlos Alfonso Tovilla‐Zárate, Isela Esther Juárez‐Rojop, Emmanuel Sarmiento, Alma Delia Genis‐Mendoza, Humberto Nicolini

Mol Genet Genomic Med. 2019 Dec; 7(12): e983. Published online 2019 Oct 2. doi: 10.1002/mgg3.983

PMCID:: PMC6900393

Abstract Article PDF–604K

Select item 68171796.

Rapid Screening for Deleted Form of β‐thalassemia by Real‐Time Quantitative PCR

Liang‐Yin Ke, Jan‐Gowth Chang, Chao‐Sung Chang, Li‐Ling Hsieh, Ta‐Chih Liu

J Clin Lab Anal. 2017 Jan; 31(1): e22019. Published online 2016 Aug 16. doi: 10.1002/jcla.22019

PMCID:: PMC6817179

Abstract Article PDF–277K

Select item 67749997.

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, Päivi Vieira, Naemeh Nayebzadeh, Simone Weiss, Astrid S. Plomp, Reginald E. Bittner, Mitja I. Kurki, Outi Kuismin, Andrea M. Lewis, Marja-Leena Väisänen, Hannaleena Kokkonen, Jonne Westermann, Günther Bernert, Hannu Tuominen, Aarno Palotie, Lauri Aaltonen, Yaping Yang, Lorraine Potocki, Jukka Moilanen, Silvana van Koningsbruggen, Xia Wang, Wolfgang M. Schmidt, Peppi Koivunen, Johanna Uusimaa

Genet Med. 2019; 21(10): 2355–2363. Published online 2019 Apr 3. doi: 10.1038/s41436-019-0503-4

PMCID:: PMC6774999

Abstract Article PDF–693K

Select item 67554748.

Effect of type 2 diabetes mellitus caveolin-3 K15N mutation on glycometabolism

Yiyuan Huang, Yufeng Deng, Lina Shang, Lihui Yang, Juanjuan Huang, Jing Ma, Xianshan Liao, Hui Zhou, Jing Xian, Guining Liang, Qin Huang

Exp Ther Med. 2019 Oct; 18(4): 2531–2539. Published online 2019 Aug 2. doi: 10.3892/etm.2019.7840

Correction in:: Exp Ther Med. 2020 Feb; 19(2): 1137.

PMCID:: PMC6755474

Abstract Article PDF–2.5M

Select item 67273919.

A cross-sectional study on factors associated with hypertension and genetic polymorphisms of renin-angiotensin-aldosterone system in Chinese hui pilgrims to hajj

Yinxia Zhang, Fangfang Shi, Zhanbiao Yu, Aimin Yang, Maolan Zeng, Jiaoyue Wang, Haiping Yin, Benzhong Zhang, Xiao Ma

BMC Public Health. 2019; 19: 1223. Published online 2019 Sep 4. doi: 10.1186/s12889-019-7357-1

PMCID:: PMC6727391

Abstract Article PDF–1.7M

Select item 671201810.

CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan

Chun-Wei Chang, Peng-Wei Hsu, Kuo-Chen Wei, Chia-Wen Chang, Hon-Chung Fung, Mo-Song Hsih, Wen-Chuin Hsu, Long-Sun Ro, Chen-Nen Chang, Jiun-Jie Wang, Yih-Ru Wu, Sien-Tsong Chen

Sci Rep. 2019; 9: 12387. Published online 2019 Aug 27. doi: 10.1038/s41598-019-48448-y

PMCID:: PMC6712018

Abstract Article PDF–2.0M

Select item 670268711.

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 664634612.

ERβ promotes Aβ degradation via the modulation of autophagy

Yong Wei, Jiawei Zhou, Jun Wu, Jian Huang

Cell Death Dis. 2019 Aug; 10(8): 565. Published online 2019 Jul 22. doi: 10.1038/s41419-019-1786-8

Correction in:: Cell Death Dis. 2019 Sep; 10(9): 634.

PMCID:: PMC6646346

Abstract Article PDF–1.7M

Select item 657274113.

Urinary 8-hydroxydeoxyguanosine in relation to XRCC1 rs25487 G/A (Arg399Gln) and OGG1 rs1052133 C/G (Ser326Cys) DNA repair genes polymorphisms in patients with chronic hepatitis C and related hepatocellular carcinoma

Aida A Mahmoud, Mohammed H Hassan, Ali A Ghweil, Amany Abdelrahman, Asmaa N Mohammad, Hesham H Ameen

Cancer Manag Res. 2019; 11: 5343–5351. Published online 2019 Jun 10. doi: 10.2147/CMAR.S209112

PMCID:: PMC6572741

Abstract Article PDF–1.0M

Select item 654495914.

Polymorphisms in the CCR5 promoter associated with cervical intraepithelial neoplasia in a Chinese Han population

Shuyuan Liu, Jun Chen, Zhiling Yan, Shuying Dai, Chuanyin Li, Yufeng Yao, Li Shi

BMC Cancer. 2019; 19: 525. Published online 2019 May 31. doi: 10.1186/s12885-019-5738-6

PMCID:: PMC6544959

Abstract Article PDF–853K

Select item 650316915.

IRS1‐ rs10498210 G/A and CCR5‐59029 A/G polymorphisms in patients with type 2 diabetes in Kurdistan

Fatemeh Keshavarzi, Shadi Golsheh

Mol Genet Genomic Med. 2019 May; 7(5): e631. Published online 2019 Mar 18. doi: 10.1002/mgg3.631

PMCID:: PMC6503169

Abstract Article PDF–490K

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 648317417.

Low genetic heterogeneity of copy number variations (CNVs) in the genes encoding the human deoxyribonucleases 1-like 3 and II potentially relevant to autoimmunity

Misuzu Ueki, Junko Fujihara, Kaori Kimura-Kataoka, Kazuo Yamada, Yoshikazu Takinami, Haruo Takeshita, Reiko Iida, Toshihiro Yasuda

PLoS One. 2019; 14(4): e0215479. Published online 2019 Apr 25. doi: 10.1371/journal.pone.0215479

PMCID:: PMC6483174

Abstract Article PDF–1.0M

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 630565419.

Functional variants of the ATG7 gene promoter in acute myocardial infarction

Pei Zhang, Jie Zhang, Yexin Zhang, Shuai Wang, Shuchao Pang, Bo Yan

Mol Genet Genomic Med. 2018 Nov; 6(6): 1209–1219. Published online 2018 Nov 8. doi: 10.1002/mgg3.508

PMCID:: PMC6305654

Abstract Article PDF–1.0M

Select item 628270820.

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update

Meng Wang, Keith M. Callenberg, Raymond Dalgleish, Alexandre Fedtsov, Naomi K. Fox, Peter J. Freeman, Kevin B. Jacobs, Piotr Kaleta, Andrew J. McMurry, Andreas Prlić, Veena Rajaraman, Reece K. Hart

Hum Mutat. 2018 Dec; 39(12): 1803–1813. Published online 2018 Sep 5. doi: 10.1002/humu.23615

PMCID:: PMC6282708

Abstract Article PDF–795K

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