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Select item 110611031.

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

Article PDF–732K

Select item 110199832.

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

Article PDF–1.4M

Select item 110778043.

Computer-aided designing of a novel multi‑epitope DNA vaccine against severe fever with thrombocytopenia syndrome virus

Yiran Tao, Yu Zhang, Yumeng Li, Qiao Liu, Jin Zhu, Minjun Ji, Gaoqian Feng, Zhipeng Xu

BMC Infect Dis. 2024; 24: 476. Published online 2024 May 7. doi: 10.1186/s12879-024-09361-6

PMCID:: PMC11077804

Article PDF–7.2M

Select item 110777904.

Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome

Ester Capecchi, Roberta Villa, Alessandro Pini, Maria Iascone, Laura Messina, Paola Francesca Ajmone, Fabio Mosca, Silvana Gangi, Maria Francesca Bedeschi

Ital J Pediatr. 2024; 50: 94. Published online 2024 May 7. doi: 10.1186/s13052-024-01643-8

PMCID:: PMC11077790

Article PDF–1.0M

Select item 110777755.

Porcine cis-acting lnc-CAST positively regulates CXCL8 expression through histone H3K27ac

Junxin Gao, Haidong Yu, Yu Pan, Xinrong Wang, He Zhang, Yunfei Xu, Wenjie Ma, Wenli Zhang, Lizhi Fu, Yue Wang

Vet Res. 2024; 55: 56. Published online 2024 May 7. doi: 10.1186/s13567-024-01296-9

PMCID:: PMC11077775

Article PDF–2.5M

Select item 110777566.

Causal association between low vitamin D and polycystic ovary syndrome: a bidirectional mendelian randomization study

Bingrui Gao, Chenxi Zhang, Deping Wang, Bojuan Li, Zhongyan Shan, Weiping Teng, Jing Li

J Ovarian Res. 2024; 17: 95. Published online 2024 May 7. doi: 10.1186/s13048-024-01420-5

PMCID:: PMC11077756

Article PDF–1.6M

Select item 110777477.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga, Agustín F. Fernández, Elisabeth Gabau, Raquel Corripio, Nuria Capdevila, Juan Pablo Trujillo, Anna Ruiz, Miriam Guitart

Clin Epigenetics. 2024; 16: 62. Published online 2024 May 7. doi: 10.1186/s13148-024-01652-8

PMCID:: PMC11077747

Article PDF–1.4M

Select item 110777388.

Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series

Myriam Ben Fredj, Marwa Messaoud, Sabrine Ben Youssef, Salma Mani, Syrine Laaribi, Rania Sakka, Hayet Ben Hmida, Amine Ksiaa, Mongi Mekki, Mohsen Belghith, Lassaad Sahnoun

Ital J Pediatr. 2024; 50: 93. Published online 2024 May 7. doi: 10.1186/s13052-024-01618-9

PMCID:: PMC11077738

Article PDF–787K

Select item 110777199.

Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing

Erfan Kohansal, Niloofar Naderi, Amir Farjam Fazelifar, Majid Maleki, Samira Kalayinia

BMC Med Genomics. 2024; 17: 126. Published online 2024 May 7. doi: 10.1186/s12920-024-01900-z

PMCID:: PMC11077719

Article PDF–1.7M

Select item 1107708110.

BRD2 promotes antibody class switch recombination by facilitating DNA repair in collaboration with NIPBL

Santosh K Gothwal, Ahmed M Refaat, Mikiyo Nakata, Andre Stanlie, Tasuku Honjo, Nasim A Begum

Nucleic Acids Res. 2024 May 8; 52(8): 4422–4439. Published online 2024 Apr 3. doi: 10.1093/nar/gkae204

PMCID:: PMC11077081

Article PDF–2.5M

Select item 1107699811.

Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing

Zhe Yu, Zirui Zhang, Jun Liu, Xiaoying Wu, Xiaojun Fan, Jiaohui Pang, Hua Bao, Jiani Yin, Xue Wu, Yang Shao, Zhengcheng Liu, Fang Liu

Mol Oncol. 2024 May; 18(5): 1301–1315. Published online 2024 Jan 25. doi: 10.1002/1878-0261.13548

PMCID:: PMC11076998

Article PDF–587K

Select item 1107647912.

Genetic variations in ACE2 gene associated with metabolic syndrome in southern China: a case–control study

Min Pan, Mingzhong Yu, Suli Zheng, Li Luo, Jie Zhang, Jianmin Wu

Sci Rep. 2024; 14: 10505. Published online 2024 May 7. doi: 10.1038/s41598-024-61254-5

PMCID:: PMC11076479

Article PDF–1.5M

Select item 1107640113.

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families

Sylvia Safwat, Kyle P. Flannery, Ahmed A. El Beheiry, Mohamed M. Mokhtar, Ebtesam Abdalla, M. Chiara Manzini

Neurogenetics. 2024; 25(2): 93–102. Published online 2024 Feb 1. doi: 10.1007/s10048-024-00745-z

PMCID:: PMC11076401

Article PDF–1.1M

Select item 1107633614.

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature

Ettore Cioffi, Gianluca Coppola, Olimpia Musumeci, Salvatore Gallone, Gabriella Silvestri, Salvatore Rossi, Fiorella Piemonte, Jessica D’Amico, Alessandra Tessa, Filippo Maria Santorelli, Carlo Casali

Neurogenetics. 2024; 25(2): 51–67. Published online 2024 Feb 9. doi: 10.1007/s10048-024-00749-9

PMCID:: PMC11076336

Article PDF–1.1M

Select item 1107556815.

Mapping of DDX11 genetic interactions defines sister chromatid cohesion as the major dependency

Leanne Amitzi, Ecaterina Cozma, Amy Hin Yan Tong, Katherine Chan, Catherine Ross, Nigel O’Neil, Jason Moffat, Peter Stirling, Philip Hieter

G3 (Bethesda) 2024 May; 14(5): jkae052. Published online 2024 Mar 13. doi: 10.1093/g3journal/jkae052

PMCID:: PMC11075568

Article PDF–3.3M

Select item 1107464516.

PRRSV degrades MDA5 via dual autophagy receptors P62 and CCT2 to evade antiviral innate immunity

Ruiqi Sun, Yanyu Guo, Lilin Zhang, Huixia Zhang, Boxuan Yin, Xiaoyang Li, Changyan Li, Liu Yang, Lei Zhang, Zexing Li, Jinhai Huang

Virol Sin. 2024 Apr; 39(2): 264–276. Published online 2024 Jan 23. doi: 10.1016/j.virs.2024.01.005

PMCID:: PMC11074645

Article PDF–5.4M

Select item 1107464317.

Viromes of Haemaphysalis longicornis reveal different viral abundance and diversity in free and engorged ticks

Jian Xiao, Xuan Yao, Xuhua Guan, Jinfeng Xiong, Yaohui Fang, Jingyuan Zhang, You Zhang, Abulimiti Moming, Zhengyuan Su, Jiayin Jin, Yingying Ge, Jun Wang, Zhaojun Fan, Shuang Tang, Shu Shen, Fei Deng

Virol Sin. 2024 Apr; 39(2): 194–204. Published online 2024 Feb 13. doi: 10.1016/j.virs.2024.02.003

PMCID:: PMC11074643

Article PDF–2.2M

Select item 1107449418.

Toxic Shock Syndrome (TSS) Caused by Group A Streptococcus: Novel Insights Within the Context of a Familiar Clinical Syndrome

Tae Hyong Kim

J Korean Med Sci. 2024 May 6; 39(17): e154. Published online 2024 May 1. doi: 10.3346/jkms.2024.39.e154

PMCID:: PMC11074494

Article PDF–608K

Select item 1107447319.

RNA m5C methylation modification: a potential therapeutic target for SARS-CoV-2-associated myocarditis

Yan Xiong, Yanan Li, Weiwei Qian, Qing Zhang

Front Immunol. 2024; 15: 1380697. Published online 2024 Apr 23. doi: 10.3389/fimmu.2024.1380697

PMCID:: PMC11074473

Article PDF–1.8M

Select item 1107415520.

Synthetic phage-based approach for sensitive and specific detection of Escherichia coli O157

Azumi Tamura, Aa Haeruman Azam, Tomohiro Nakamura, Kenichi Lee, Sunao Iyoda, Kohei Kondo, Shinjiro Ojima, Kotaro Chihara, Wakana Yamashita, Longzhu Cui, Yukihiro Akeda, Koichi Watashi, Yoshimasa Takahashi, Hiroshi Yotsuyanagi, Kotaro Kiga

Commun Biol. 2024; 7: 535. Published online 2024 May 6. doi: 10.1038/s42003-024-06247-w