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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

Abstract 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

Abstract Article PDF–1.4M

Select item 111365363.

Classification of Cushing’s syndrome PKAc mutants based upon their ability to bind PKI

Mitchell H. Omar, Maryanne Kihiu, Dominic P. Byrne, Kyung-Soon Lee, Tyler M. Lakey, Erik Butcher, Patrick A. Eyers, John D. Scott

Biochem J. Author manuscript; available in PMC 2024 May 29.

Published in final edited form as: Biochem J. 2023 Jun 28; 480(12): 875–890. doi: 10.1042/BCJ20230183

PMCID:: PMC11136536

Abstract Article PDF–1.8M

Select item 111364514.

Paxillin regulates androgen receptor expression associated with granulosa cell focal adhesions

Adelaide E Weidner, Anna Roy, Kenji Vann, Ariana C Walczyk, Olga Astapova

Mol Hum Reprod. 2024 May; 30(5): gaae018. Published online 2024 May 8. doi: 10.1093/molehr/gaae018

PMCID:: PMC11136451

Abstract Article PDF–3.0M

Select item 111356415.

The electrophysiologic effects of KCNQ1 extend beyond expression of I_Ks: evidence from genetic and pharmacologic block

Yuko Wada, Lili Wang, Lynn D Hall, Tao Yang, Laura L Short, Joseph F Solus, Andrew M Glazer, Dan M Roden

Cardiovasc Res. 2024 May; 120(7): 735–744. Published online 2024 Mar 5. doi: 10.1093/cvr/cvae042

PMCID:: PMC11135641

Abstract Article PDF–731K

Select item 111350686.

以假性Bartter综合征为主要表现的囊性纤维化患儿3例并文献复习

张继燕, 孙林军, 段效军, 张子敏, 肖政辉, 陈艳萍, 游洁玉

Zhongguo Dang Dai Er Ke Za Zhi. 2024 May 15; 26(5): 506–511. Chinese. doi: 10.7499/j.issn.1008-8830.2310080

PMCID:: PMC11135068

Abstract Article PDF–574K

Select item 111350567.

PI3Kδ过度活化综合征7例报道

刘清华, 彭力, 黄寒, 邓亮吉, 钟礼立

Zhongguo Dang Dai Er Ke Za Zhi. 2024 May 15; 26(5): 499–505. Chinese. doi: 10.7499/j.issn.1008-8830.2312065

PMCID:: PMC11135056

Abstract Article PDF–1.9M

Select item 111334098.

Effect of nonsense-mediated mRNA decay factor SMG9 deficiency on premature aging in zebrafish

Shaohong Lai, Hiroshi Shiraishi, Wulan Apridita Sebastian, Nobuyuki Shimizu, Ryohei Umeda, Mayo Ikeuchi, Kyoko Kiyota, Takashi Takeno, Shuya Miyazaki, Shinji Yano, Tatsuo Shimada, Akihiko Yoshimura, Reiko Hanada, Toshikatsu Hanada

Commun Biol. 2024; 7: 654. Published online 2024 May 28. doi: 10.1038/s42003-024-06356-6

PMCID:: PMC11133409

Abstract Article PDF–11M

Select item 111333519.

Circ_0001671 regulates prostate cancer progression through miR-27b-3p/BLM axis

Lihong Yang, Yong Ruan, Bin Chen, Yuhang Zhu, Houqiang Xu

Sci Rep. 2024; 14: 12181. Published online 2024 May 28. doi: 10.1038/s41598-024-63068-x

PMCID:: PMC11133351

Abstract Article PDF–3.9M

Select item 1113325110.

Disruption of pulmonary microvascular endothelial barrier by dysregulated claudin-8 and claudin-4: uncovered mechanisms in porcine reproductive and respiratory syndrome virus infection

Weifeng Sun, Weixin Wu, Xinyu Fang, Xinna Ge, Yongning Zhang, Jun Han, Xin Guo, Lei Zhou, Hanchun Yang

Cell Mol Life Sci. 2024 Dec; 81(1): 240. Published online 2024 May 28. doi: 10.1007/s00018-024-05282-4

PMCID:: PMC11133251

Abstract Article PDF–11M

Select item 1113105211.

Differentiation syndrome associated with treatment with IDH2 inhibitor enasidenib: pooled analysis from clinical trials

Pau Montesinos, Amir T. Fathi, Stéphane de Botton, Eytan M. Stein, Amer M. Zeidan, Yue Zhu, Thomas Prebet, Carlos E. Vigil, Iryna Bluemmert, Xin Yu, Courtney D. DiNardo

Blood Adv. 2024 May 28; 8(10): 2509–2519. Published online 2024 Mar 22. doi: 10.1182/bloodadvances.2023011914

PMCID:: PMC11131052

Abstract Article PDF–903K

Select item 1113034812.

Serum NfL and EGFR/NfL ratio mRNAs as biomarkers for phenotype and disease severity of myelin oligodendrocyte glycoprotein IgG-associated disease

Xin Wang, Yi Qu, Jiayu Fan, Huiqiang Ren

Front Immunol. 2024; 15: 1388734. Published online 2024 May 14. doi: 10.3389/fimmu.2024.1388734

PMCID:: PMC11130348

Abstract Article PDF–982K

Select item 1113034713.

Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis

Gréta Antal, Anna Zsigmond, Ágnes Till, Eniko Orsi, Ildiko Szanto, Gergely Büki, László Kereskai, Zsuzsanna Herbert, Kinga Hadzsiev, Judit Bene

Pathol Oncol Res. 2024; 30: 1611768. Published online 2024 May 14. doi: 10.3389/pore.2024.1611768

PMCID:: PMC11130347

Abstract Article PDF–1.5M

Select item 1113031714.

Genome-wide cross-disease analyses highlight causality and shared biological pathways of type 2 diabetes with gastrointestinal disorders

Emmanuel O. Adewuyi, Tenielle Porter, Eleanor K. O’Brien, Oladapo Olaniru, Giuseppe Verdile, Simon M. Laws

Commun Biol. 2024; 7: 643. Published online 2024 May 27. doi: 10.1038/s42003-024-06333-z

PMCID:: PMC11130317

Abstract Article PDF–1.2M

Select item 1113018815.

Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome

Eman E. A. Mohammed, Alaaeldin G. Fayez, Nabil M. Abdelfattah, Ekram Fateen

Sci Rep. 2024; 14: 12148. Published online 2024 May 27. doi: 10.1038/s41598-024-62352-0

PMCID:: PMC11130188

Abstract Article PDF–1.7M

Select item 1112994416.

Metabolic syndrome and epigenetic aging: a twin study

Tiina Föhr, Arne Hendrix, Anna Kankaanpää, Eija K. Laakkonen, Urho Kujala, Kirsi H. Pietiläinen, Terho Lehtimäki, Mika Kähönen, Olli Raitakari, Xiaoling Wang, Jaakko Kaprio, Miina Ollikainen, Elina Sillanpää

Int J Obes (Lond) 2024; 48(6): 778–787. Published online 2024 Jan 25. doi: 10.1038/s41366-024-01466-x

PMCID:: PMC11129944

Abstract Article PDF–756K

Select item 1112994317.

Oligogenic inheritance in severe adult obesity

Sumaya Almansoori, Suzanne I. Alsters, Andrianos M. Yiorkas, Nikman Adli Nor Hashim, Robin G. Walters, Harvinder S. Chahal, Sanjay Purkayastha, Nader Lessan, Alexandra I. F. Blakemore

Int J Obes (Lond) 2024; 48(6): 815–820. Published online 2024 Jan 31. doi: 10.1038/s41366-024-01476-9

PMCID:: PMC11129943

Abstract Article PDF–917K

Select item 1112972918.

Design of multi‐epitope chimeric vaccine against Monkeypox virus and SARS‐CoV‐2: A vaccinomics perspective

Haitham Al‐Madhagi, Adeela Kanawati, Zaher Tahan

J Cell Mol Med. 2024 May; 28(10): e18452. Published online 2024 May 27. doi: 10.1111/jcmm.18452

PMCID:: PMC11129729

Abstract Article PDF–5.7M

Select item 1112947819.

Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A)

Katarzyna Stawarz, Monika Durzynska, Adam Galazka, Monika Paszkowska, Karolina Bienkowska-Pluta, Jakub Zwolinski, Andrzej Tysarowski, Ewa Kwiatkowska, Agnieszka Podgorska

World J Surg Oncol. 2024; 22: 139. Published online 2024 May 27. doi: 10.1186/s12957-024-03418-1