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JOURNAL ARTICLE
Min-Zhi Jiang, Sheila M Gaynor, Xihao Li, Eric Van Buren, Adrienne Stilp, Erin Buth, Fei Fei Wang, Regina Manansala, Stephanie M Gogarten, Zilin Li, Linda M Polfus, Shabnam Salimi, Joshua C Bis, Nathan Pankratz, Lisa R Yanek, Peter Durda, Russell P Tracy, Stephen S Rich, Jerome I Rotter, Braxton D Mitchell, Joshua P Lewis, Bruce M Psaty, Katherine A Pratte, Edwin K Silverman, Robert C Kaplan, Christy Avery, Kari E North, Rasika A Mathias, Nauder Faraday, Honghuang Lin, Biqi Wang, April P Carson, Arnita F Norwood, Richard A Gibbs, Charles Kooperberg, Jessica Lundin, Ulrike Peters, Josée Dupuis, Lifang Hou, Myriam Fornage, Emelia J Benjamin, Alexander P Reiner, Russell P Bowler, Xihong Lin, Paul L Auer, Laura M Raffield
Inflammation biomarkers can provide valuable insight into the role of inflammatory processes in many diseases and conditions. Sequencing based analyses of such biomarkers can also serve as an exemplar of the genetic architecture of quantitative traits. To evaluate the biological insight, which can be provided by a multi-ancestry, whole-genome based association study, we performed a comprehensive analysis of 21 inflammation biomarkers from up to 38 465 individuals with whole-genome sequencing from the Trans-Omics for Precision Medicine (TOPMed) program (with varying sample size by trait, where the minimum sample size was n = 737 for MMP-1)...
May 15, 2024: Human Molecular Genetics
#2
JOURNAL ARTICLE
Akifumi Nozawa, Taiki Abe, Tetsuya Niihori, Michio Ozeki, Yoko Aoki, Hidenori Ohnishi
Generalized lymphatic anomaly (GLA) and kaposiform lymphangiomatosis (KLA) are rare congenital disorders that arise through anomalous embryogenesis of the lymphatic system. A somatic activating NRAS p.Q61R variant has been recently detected in GLA and KLA tissues, suggesting that the NRAS p.Q61R variant plays an important role in the development of these diseases. To address this role, we studied the effect of the NRAS p.Q61R variant in lymphatic endothelial cells (LECs) on the structure of the lymphatics during embryonic and postnatal lymphangiogenesis applying inducible, LEC-specific NRAS p...
May 13, 2024: Human Molecular Genetics
#3
JOURNAL ARTICLE
Ksenia S Marinina, Ilya B Bezprozvanny, Polina A Egorova
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is reported to be the most common type of autosomal dominant cerebellar ataxia (ADCA). SCA3 patients suffer from a progressive decline in motor coordination and other disease-associated symptoms. Moreover, recent studies have reported that SCA3 patients also exhibit symptoms of cerebellar cognitive affective syndrome (CCAS). We previously observed signs of CCAS in mouse model of SCA3. Particularly, SCA3-84Q mice suffer from anxiety, recognition memory decline, and also exhibit signs of low mood and aversion to activity...
May 10, 2024: Human Molecular Genetics
#4
JOURNAL ARTICLE
Kaicheng Zhou, Wenxuan Li, Lu Chen, Siyue Chen, Mengxing Liu, Zhicong Yang, Zhanrui Mao, Wenqiang Yu
microRNAs (miRNAs) are short non-coding RNAs that have been increasingly recognized for their significant roles in the progression of cancer. Distinct miRNAs exhibit diverse functions attributed to variations in their sequences. As a result of possessing highly homologous seed sequences, these miRNAs target overlapping or similar gene sets, thus performing analogous roles. However, different from this sight, our study discovered that miR-135a-5p and miR-135b-5p, despite differing by only one nucleotide, exhibit distinct functional roles...
May 9, 2024: Human Molecular Genetics
#5
JOURNAL ARTICLE
Chantal A Coles, Keryn G Woodman, Elizabeth M Gibbs, Rachelle H Crosbie, Jason D White, Shireen R Lamandé
Duchenne Muscular Dystrophy (DMD) is a progressive and fatal neuromuscular disease. Cycles of myofibre degeneration and regeneration are hallmarks of the disease where immune cells infiltrate to repair damaged skeletal muscle. Benfotiamine is a lipid soluble precursor to thiamine, shown clinically to reduce inflammation in diabetic related complications. We assessed whether benfotiamine administration could reduce inflammation related dystrophic pathology. Benfotiamine (10 mg/kg/day) was fed to male mdx mice (n = 7) for 15 weeks from 4 weeks of age...
May 6, 2024: Human Molecular Genetics
#6
JOURNAL ARTICLE
Rita Rani, N Sushma Sri, Raghavender Medishetti, Kiranam Chatti, Aarti Sevilimedu
Fragile X syndrome (FXS) is an inherited neurodevelopmental disorder and the leading genetic cause of autism spectrum disorders. FXS is caused by loss of function mutations in Fragile X mental retardation protein (FMRP), an RNA binding protein that is known to regulate translation of its target mRNAs, predominantly in the brain and gonads. The molecular mechanisms connecting FMRP function to neurodevelopmental phenotypes are well understood. However, neither the full extent of reproductive phenotypes, nor the underlying molecular mechanisms have been as yet determined...
May 6, 2024: Human Molecular Genetics
#7
JOURNAL ARTICLE
Ines Tapken, Daniela Kuhn, Nico Hoffmann, Nora T Detering, Tobias Schüning, Jean-Noël Billaud, Stuart Tugendreich, Nadine Schlüter, Jeff Green, Andreas Krämer, Peter Claus
Spinal Muscular Atrophy is caused by partial loss of survival of motoneuron (SMN) protein expression. The numerous interaction partners and mechanisms influenced by SMN loss result in a complex disease. Current treatments restore SMN protein levels to a certain extent, but do not cure all symptoms. The prolonged survival of patients creates an increasing need for a better understanding of SMA. Although many SMN-protein interactions, dysregulated pathways, and organ phenotypes are known, the connections among them remain largely unexplored...
May 4, 2024: Human Molecular Genetics
#8
JOURNAL ARTICLE
Taro Matsuoka, Hideki Yoshida, Takashi Kasai, Takenori Tozawa, Tomoko Iehara, Tomohiro Chiyonobu
Syntaxin-binding protein 1 (STXBP1) is a presynaptic protein that plays important roles in synaptic vesicle docking and fusion. STXBP1 haploinsufficiency causes STXBP1 encephalopathy (STXBP1-E), which encompasses neurological disturbances including epilepsy, neurodevelopmental disorders, and movement disorders. Most patients with STXBP1-E present with regression and movement disorders in adulthood, highlighting the importance of a deeper understanding of the neurodegenerative aspects of STXBP1-E. An in vitro study proposed an interesting new role of STXBP1 as a molecular chaperone for α-Synuclein (αSyn), a key molecule in the pathogenesis of neurodegenerative disorders...
May 1, 2024: Human Molecular Genetics
#9
JOURNAL ARTICLE
Amin Kharaghani, Earvin S Tio, Milos Milic, David A Bennett, Philip L De Jager, Julie A Schneider, Lei Sun, Daniel Felsky
Late-Onset Alzheimer's Disease (LOAD) is a heterogeneous neurodegenerative disorder with complex etiology and high heritability. Its multifactorial risk profile and large portions of unexplained heritability suggest the involvement of yet unidentified genetic risk factors. Here we describe the "whole person" genetic risk landscape of polygenic risk scores for 2218 traits in 2044 elderly individuals and test if novel eigen-PRSs derived from clustered subnetworks of single-trait PRSs can improve the prediction of LOAD diagnosis, rates of cognitive decline, and canonical LOAD neuropathology...
April 27, 2024: Human Molecular Genetics
#10
JOURNAL ARTICLE
Yan Yang, Haiyan Luo, Lijuan Pan, Chuanxin Feng, Zhen Guo, Yongyi Zou, Baitao Zeng, Shuhui Huang, Huizhen Yuan, Ping Wu, Danping Liu, Yi Dan, Junfang Xiao, XinYu Li, ZhongFa Chen, Xiao Ni Zeng, XiangLong Jiang, Bicheng Yang, Yuhe Liu, Yanqiu Liu
PURPOSE: The aim of this study was to determine the genetic cause of early onset autosomal dominant hearing loss segregating in five-generation kindred of Chinese descent and provide preimplantation genetic testing (PGT)for them. METHODS: Clinical examination, pedigree analysis and exome sequencing were carried out on the family. Minigene-based splicing analysis, in vivo RNA analysis and protein structure prediction by molecular modeling were conducted on the candidate variant...
April 27, 2024: Human Molecular Genetics
#11
JOURNAL ARTICLE
Banaja P Dash, Axel Freischmidt, Jochen H Weishaupt, Andreas Hermann
MicroRNAs (miRNAs) are a subset of small non-coding single-stranded RNA molecules involved in the regulation of post-transcriptional gene expression of a variety of transcript targets. Therefore altered miRNA expression may result in the dysregulation of key genes and biological pathways that has been reported with the onset and progression of neurodegenerative diseases, such as Amyotrophic lateral sclerosis (ALS). ALS is marked by a progressive degeneration of motor neurons (MNs) present in the spinal cord, brain stem and motor cortex...
April 27, 2024: Human Molecular Genetics
#12
JOURNAL ARTICLE
Jason Y Y Wong, Batel Blechter, Zhonghua Liu, Jianxin Shi, Véronique L Roger
BACKGROUND: Genetic susceptibility to various chronic diseases has been shown to influence heart failure (HF) risk. However, the underlying biological pathways, particularly the role of leukocyte telomere length (LTL), are largely unknown. We investigated the impact of genetic susceptibility to chronic diseases and various traits on HF risk, and whether LTL mediates or modifies the pathways. METHODS: We conducted prospective cohort analyses on 404 883 European participants from the UK Biobank, including 9989 incident HF cases...
April 26, 2024: Human Molecular Genetics
#13
JOURNAL ARTICLE
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Sahar Mansour, Kristiana Gordon, Silvia Martin-Almedina, Sara Dobbins, Pia Ostergaard, Isabelle Quere, Pascal Brouillard, Miikka Vikkula
Developmental and functional defects in the lymphatic system are responsible for primary lymphoedema (PL). PL is a chronic debilitating disease caused by increased accumulation of interstitial fluid, predisposing to inflammation, infections and fibrosis. There is no cure, only symptomatic treatment is available. Thirty-two genes or loci have been linked to PL, and another 22 are suggested, including Hepatocyte Growth Factor (HGF). We searched for HGF variants in 770 index patients from the Brussels PL cohort...
April 26, 2024: Human Molecular Genetics
#14
(no author information available yet)
No abstract text is available yet for this article.
April 26, 2024: Human Molecular Genetics
#15
JOURNAL ARTICLE
Xin Zhang, Qiangqiang Fu, Yuying Cai, Xianglian Li, Li Chen, Yaping Jiang, Yihui Chen
PURPOSE: Pathogenesis and the associated risk factors of cataracts, glaucoma, and age-related macular degeneration (AMD) remain unclear. We aimed to investigate causal relationships between circulating cytokine levels and the development of these diseases. PATIENTS AND METHODS: Genetic instrumental variables for circulating cytokines were derived from a genome-wide association study of 8293 European participants. Summary-level data for AMD, glaucoma, and senile cataract were obtained from the FinnGen database...
April 23, 2024: Human Molecular Genetics
#16
JOURNAL ARTICLE
Aniket Bhattacharya, Paola Parlanti, Luca Cavallo, Edward Farrow, Tyler Spivey, Alessandra Renieri, Francesca Mari, M Chiara Manzini
Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous with hundreds of identified risk genes, most affecting only a few patients. Novel missense variants in these genes are being discovered as clinical exome sequencing is now routinely integrated into diagnosis, yet most of them are annotated as variants of uncertain significance (VUS). VUSs are a major roadblock in using patient genetics to inform clinical action. We developed a framework to characterize VUSs in Coiled-coil and C2 domain containing 1A (CC2D1A), a gene causing autosomal recessive ID with comorbid ASD in 40% of cases...
April 23, 2024: Human Molecular Genetics
#17
JOURNAL ARTICLE
Chen Wei, Weikai Wang, Zhihao Hu, Zhuoli Huang, Ye Lu, Wenwen Zhou, Xiaoying Liu, Xin Jin, Jianhua Yin, Guibo Li
Immunotherapy has revolutionized the treatment of tumors, but there are still a large number of patients who do not benefit from immunotherapy. Pericytes play an important role in remodeling the immune microenvironment. However, how pericytes affect the prognosis and treatment resistance of tumors is still unknown. This study jointly analyzed single-cell RNA sequencing (scRNA-seq) data and bulk RNA sequencing data of multiple cancers to reveal pericyte function in the colorectal cancer microenvironment. Analyzing over 800 000 cells, it was found that colorectal cancer had more pericyte enrichment in tumor tissues than other cancers...
April 23, 2024: Human Molecular Genetics
#18
(no author information available yet)
No abstract text is available yet for this article.
April 22, 2024: Human Molecular Genetics
#19
JOURNAL ARTICLE
Eva König, Jonathan Stewart Mitchell, Michele Filosi, Christian Fuchsberger
Genotype imputation is widely used in genome-wide association studies (GWAS). However, both the genotyping chips and imputation reference panels are dependent on next-generation sequencing (NGS). Due to the nature of NGS, some regions of the genome are inaccessible to sequencing. To date, there has been no complete evaluation of these regions and their impact on the identification of associations in GWAS remains unclear. In this study, we systematically assess the extent to which variants in inaccessible regions are underrepresented on genotyping chips and imputation reference panels, in GWAS results and in variant databases...
April 20, 2024: Human Molecular Genetics
#20
JOURNAL ARTICLE
Emily A McKaige, Clara Lee, Vanessa Calcinotto, Saveen Giri, Simon Crawford, Meagan J McGrath, Georg Ramm, Robert J Bryson-Richardson
Mutations in DNAJB6 are a well-established cause of limb girdle muscular dystrophy type D1 (LGMD D1). Patients with LGMD D1 develop progressive muscle weakness with histology showing fibre damage, autophagic vacuoles, and aggregates. Whilst there are many reports of LGMD D1 patients, the role of DNAJB6 in the muscle is still unclear. In this study, we developed a loss of function zebrafish model in order to investigate the role of Dnajb6. Using a double dnajb6a and dnajb6b mutant model, we show that loss of Dnajb6 leads to a late onset muscle weakness...
April 15, 2024: Human Molecular Genetics
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