Results 111 to 120 of about 232,794 (224)

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings, Lois Janelle Starr   +1 more
wiley   +1 more source

Homocysteine Promotes the Pathogenesis of Atherosclerosis through the Circ‐PIAS1‐5/miR‐219a‐2‐3p/TEAD1 Axis

Advanced Science, EarlyView.
A model is schematically represented for the major molecular mechanisms by which homocysteine (Hcy) accelerates the nuclear export of circ‐PIAS1‐5, which regulates atherosclerosis by acting as a competing endogenous RNA for miR‐219a‐2‐3p. Hcy enrichment of circ‐PIAS1‐5 leads to YTHDC1 binding to circ‐PIAS1‐5 and promotes its intracellular localization ...
Shengchao Ma, Fei Ma, Ning Ding, Lin Xie, Anning Yang, Jiangyong Shen, Yun jiao, Kai Wu, YueE Chai, Zhigang Bai, Jiantuan Xiong, Nan Li, Huiping Zhang, Yideng Jiang   +13 more
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

IRF8 Drives Conventional Type 1 Dendritic Cell Differentiation and CD8+ T Cell Activation to Aggravate Abdominal Aortic Aneurysm Development

Advanced Science, EarlyView.
This study highlights the critical role of IRF8 in the development of AAA. IRF8 activation promotes the differentiation of cDC1s, which in turn recruit and activate CD8+ T cells, contributing to aortic wall degradation. The study identifies the IRF8‐cDC1‐CD8+ T cell axis as a key pathway in AAA progression, offering new potential therapeutic targets to
Zhen Yuan, Li Shu, Yidan Zheng, Yidong Wang, Mengsha Zheng, Jie Sun, Jiantao Fu, Zihao Zhou, Shen Song, Zhenjie Liu, Fei Li, Zhejun Cai   +11 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Metal–Organic Frameworks: Unlocking New Frontiers in Cardiovascular Diagnosis and Therapy

Advanced Science, EarlyView.
Metal–organic frameworks (MOFs), are composed of metal ions and bridging organic ligands, are recognized as an excellent platform for host‐gust chemistry. Its rich structural composition, modifiable sites, and multilevel pore distribution can provide delivery and release of signaling molecules, probes, and therapeutic drugs, which exhibit great medical
Qilu Wu, Yuxiao Feng, Mathilde Lepoitevin, Meng Yu, Christian Serre, Jun Ge, Yuan Huang   +6 more
wiley   +1 more source

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 479-489, February 2023., 2023
Abstract To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across populations.
Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink‐Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke   +16 more
wiley   +1 more source

Cardiomyocyte‐Enriched USP20 Ameliorates Pathological Cardiac Hypertrophy by Targeting STAT3 Deubiquitination

Advanced Science, EarlyView.
Cardiomyocyte‐enriched USP20 regulates the K63‐linked ubiquitination of STAT3, and the cardiomyocyte‐specific USP20‐STAT3‐CARM1 axis exerts a protective role in cardiac hypertrophy. Targeting USP20 through cardiac‐specific gene therapy presents a promising strategy for the treatment of cardiac hypertrophy.
Lingfeng Zhong, Shanshan Dai, Fan Yu, Guo‐Ping Shi, Qinyan Gong, Yucong Zhang, Jingsi Duan, Zhengyin Lou, Zhixuan Tang, Fuzhe Gong, Derong Chen, Liya Hou, Xinyang Hu, Jinghai Chen, Jian'an Wang, Deling Yin   +15 more
wiley   +1 more source

Decursin‐Loaded Nanovesicles Target Macrophages Driven by the Pathological Process of Atherosclerosis

Advanced Science, EarlyView.
This study presents decursin, a traditional Chinese medicine monomer, that inhibits lipid accumulation and inflammation in atherosclerosis through PKCδ interaction. A novel targeted delivery system (ALD@EM) is developed to overcome decursin's short half‐life, combining antibody‐mediated targeting, LDL‐facilitated chemotaxis, and enhanced macrophage ...
Hui Chen, Yifeng Zhang, Mirenuer Aikebaier, Yawei Du, Yan Liu, Qing Zha, Lan Zheng, Shuyao Shan, Yanping Wang, Jiawei Chen, Yiping Li, Ke Yang, Ying Yang, Wenguo Cui   +13 more
wiley   +1 more source

Tratamiento endovascular en pacientes de alto riesgo quirúrgico

Revista Colombiana de Cardiología, 2013
M. Jaime Camacho, MD
doaj   +1 more source