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Items: 1 to 20 of 500

1.
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J. Burghel, Samantha Butler, Kathleen B. M. Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
Eur J Hum Genet. 2024 May; 32(5): 479–488. Published online 2024 Mar 5. doi: 10.1038/s41431-023-01507-5
PMCID:
PMC11061103
ArticlePDF–732K
2.
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases
Job A.J. Verdonschot, Debby M.E.I. Hellebrekers, Vanessa P.M. van Empel, Malou Heijligers, Sonja de Munnik, Edith Coonen, Jos C.M.F. Dreesen, Arthur van den Wijngaard, Han G. Brunner, Masoud Zamani Esteki, Stephane R.B. Heymans, Christine E.M. de Die-Smulders, Aimée D.C. Paulussen
Circ Genom Precis Med. 2024 Apr; 17(2): e004416. Published online 2024 Mar 22. doi: 10.1161/CIRCGEN.123.004416
PMCID:
PMC11019983
ArticlePDF–1.4M
3.
SARS-CoV-2 aberrantly elevates mitochondrial bioenergetics to induce robust virus propagation
Hye Jin Shin, Wooseong Lee, Keun Bon Ku, Gun Young Yoon, Hyun-Woo Moon, Chonsaeng Kim, Mi-Hwa Kim, Yoon-Sun Yi, Sangmi Jun, Bum-Tae Kim, Jong-Won Oh, Aleem Siddiqui, Seong-Jun Kim
Signal Transduct Target Ther. 2024; 9: 125. Published online 2024 May 11. doi: 10.1038/s41392-024-01836-x
PMCID:
PMC11088672
ArticlePDF–5.3M
4.
Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients
Lin Wu, Jingshi Wang, Deli Song, Yahong You, Zhao Wang
BMC Infect Dis. 2024; 24: 482. Published online 2024 May 10. doi: 10.1186/s12879-024-09356-3
PMCID:
PMC11088005
ArticlePDF–1.0M
5.
Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome
Zhi Lei, Xiaorui Song, Xuan Zheng, Yanhong Wang, Yingyuan Wang, Zhirong Wu, Tian Fan, Shijie Dong, Honghui Cao, Yuefang Zhao, Zhiyi Xia, Liujiong Gao, Qing Shang, Shiyue Mei
Mol Genet Genomic Med. 2024 May; 12(5): e2447. Published online 2024 May 11. doi: 10.1002/mgg3.2447
PMCID:
PMC11087815
ArticlePDF–7.0M
6.
Adrenergic receptors blockade alleviates dexamethasone-induced neurotoxicity in adult male Wistar rats: Distinct effects on β-arrestin2 expression and molecular markers of neural injury
Rasha M. S. M. Mohamed, Enssaf Ahmad Ahmad, Dalia M. Amin, Samar Ahmed Abdo, Islam A. A. E.-H. Ibrahim, Mona F. Mahmoud, Shimaa Abdelaal
Daru. 2024 Jun; 32(1): 97–108. Published online 2023 Nov 15. doi: 10.1007/s40199-023-00490-y
PMCID:
PMC11087427
ArticlePDF–2.1M
7.
Exploring causality in the association between gut microbiota and irritable bowel syndrome risk: a large Mendelian randomization study
Jishi Zhang, Xinlin Shi, Yun Wang
Aging (Albany NY) 2024 Apr 30; 16(8): 7448–7459. Published online 2024 Apr 25. doi: 10.18632/aging.205771
PMCID:
PMC11087118
ArticlePDF–1.2M
8.
Knockdown of PHOX2B in the retrotrapezoid nucleus reduces the central CO2 chemoreflex in rats
Silvia Cardani, Tara A Janes, William Betzner, Silvia Pagliardini
eLife. 2024; 13: RP94653. Published online 2024 May 10. doi: 10.7554/eLife.94653
PMCID:
PMC11087052
ArticlePDF–3.6M
9.
Predicting drug–Protein interaction with deep learning framework for molecular graphs and sequences: Potential candidates against SAR-CoV-2
Weian Du, Liang Zhao, Rong Wu, Boning Huang, Si Liu, Yufeng Liu, Huaiqiu Huang, Ge Shi
PLoS One. 2024; 19(5): e0299696. Published online 2024 May 10. doi: 10.1371/journal.pone.0299696
PMCID:
PMC11086825
ArticlePDF–1009K
10.
Role of N6-methyladenosine-related lncRnas in pseudoexfoliation glaucoma
Jieying Guan, Xiaohong Chen, Zhidong Li, Shuifeng Deng, Aizezi Wumaier, Yuncheng Ma, Lingling Xie, Shengsong Huang, Yingting Zhu, Yehong Zhuo
Epigenetics. 2024; 19(1): 2348840. Published online 2024 May 8. doi: 10.1080/15592294.2024.2348840
PMCID:
PMC11086004
ArticlePDF–2.7M
11.
Relationship between Vitamin D3 Deficiency, Metabolic Syndrome and VDR, GC, and CYP2R1 Gene Polymorphisms
Carmina Mariana Stroia, Timea Claudia Ghitea, Maria Vrânceanu, Mariana Mureșan, Erika Bimbo-Szuhai, Csaba Robert Pallag, Annamaria Pallag
Nutrients. 2024 May; 16(9): 1272. Published online 2024 Apr 25. doi: 10.3390/nu16091272
PMCID:
PMC11085312
ArticlePDF–1.3M
12.
Comparative Transcriptomic Analysis of WSSV-Challenged Penaeus vannamei with Variable Resistance Levels
Xupeng Li, Qian Xue, Sheng Luan, Kun Luo, Jie Kong, Xianhong Meng
Int J Mol Sci. 2024 May; 25(9): 4961. Published online 2024 May 2. doi: 10.3390/ijms25094961
PMCID:
PMC11084523
ArticlePDF–3.9M
13.
Severe fever with thrombocytopenia syndrome with central nervous system symptom onset: a case report and literature review
Dawei Shan, Weibi Chen, Gang Liu, Huimin Zhang, Shuting Chai, Yan Zhang
BMC Neurol. 2024; 24: 158. Published online 2024 May 10. doi: 10.1186/s12883-024-03664-6
PMCID:
PMC11084135
ArticlePDF–1.7M
14.
Variations and trade-offs in leaf and culm functional traits among 77 woody bamboo species
Xiong Liu, Shixing Zhou, Junxi Hu, Xingcheng Zou, Liehua Tie, Ying Li, Xinglei Cui, Congde Huang, Jordi Sardans, Josep Peñuelas
BMC Plant Biol. 2024; 24: 387. Published online 2024 May 10. doi: 10.1186/s12870-024-05108-2
PMCID:
PMC11084126
ArticlePDF–6.3M
15.
Epithelial cells derived exosomal miR-203a-3p facilitates stromal inflammation of type IIIA chronic prostatitis/chronic pelvic pain syndrome by targeting DUSP5 and increasing MCP-1 generation
Guojing Song, Fuhan Zhao, Rongrong Ni, Bingqian Deng, Saipeng Chen, Ruimin Hu, Jun Zheng, Yiji Peng, Heting Liu, Yang Luo, Zhansong Zhou, Gang Huang, Wenhao Shen
J Nanobiotechnology. 2024; 22: 236. Published online 2024 May 10. doi: 10.1186/s12951-024-02513-5
PMCID:
PMC11084011
ArticlePDF–10M
16.
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, Jr., M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
J Neurodev Disord. 2024; 16: 25. Published online 2024 May 10. doi: 10.1186/s11689-024-09541-0
PMCID:
PMC11084001
ArticlePDF–1.1M
17.
Functional and Genetic Analyses Unveil the Implication of CDC27 in Hemifacial Microsomia
Wenjie Song, Xin Xia, Yue Fan, Bo Zhang, Xiaowei Chen
Int J Mol Sci. 2024 May; 25(9): 4707. Published online 2024 Apr 26. doi: 10.3390/ijms25094707
PMCID:
PMC11083823
ArticlePDF–18M
18.
Dual Deletion of Keap1 and Rbpjκ Genes in Liver Leads to Hepatomegaly and Hypercholesterolemia
Nobunao Wakabayashi, Yoko Yagishita, Tanvi Joshi, Thomas W. Kensler
Int J Mol Sci. 2024 May; 25(9): 4712. Published online 2024 Apr 26. doi: 10.3390/ijms25094712
PMCID:
PMC11083431
ArticlePDF–5.2M
19.
Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome
Sarah Poliquin, Gerald Nwosu, Karishma Randhave, Wangzhen Shen, Carson Flamm, Jing-Qiong Kang
Int J Mol Sci. 2024 May; 25(9): 4601. Published online 2024 Apr 23. doi: 10.3390/ijms25094601
PMCID:
PMC11083348
ArticlePDF–7.0M
20.
Gene Expression and DNA Methylation Profiling Suggest Potential Biomarkers for Azacitidine Resistance in Myelodysplastic Syndrome
Da Yeon Kim, Dong-Yeop Shin, Somi Oh, Inho Kim, Eun Ju Kim
Int J Mol Sci. 2024 May; 25(9): 4723. Published online 2024 Apr 26. doi: 10.3390/ijms25094723
PMCID:
PMC11083267
ArticlePDF–2.8M

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