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JOURNAL ARTICLE
Nanxi Huang, Qiaochu Wang, Robert B Bernard, Chao-Yang Chen, Je-Ming Hu, Jehng-Kang Wang, Khee-Siang Chan, Michael D Johnson, Chen-Yong Lin
Mutations in the Kunitz-type serine protease inhibitor HAI-2, encoded by SPINT2, are responsible for the pathogenesis of syndromic congenital sodium diarrhea (SCSD), an intractable secretory diarrhea of infancy. Some of the mutations cause defects in the functionally required Kunitz domain 1 and/or subcellular targeting signals. Almost all SCSD patients, however, harbor SPINT2 missense mutations that affect the functionally less important Kunitz domain 2. How theses single amino acid substitutions inactivate HAI-2 was, here, investigated by the doxycycline-inducible expression of three of these mutants in HAI-2-knockout Caco-2 human colorectal adenocarcinoma cells...
January 25, 2024: Human Molecular Genetics
#62
JOURNAL ARTICLE
Chao-Jen Wong, Seth D Friedman, Lauren Snider, Sean R Bennett, Takako I Jones, Peter L Jones, Dennis W W Shaw, Silvia S Blemker, Lara Riem, Olivia DuCharme, Richard J F L Lemmers, Silvère M van der Maarel, Leo H Wang, Rabi Tawil, Jeffrey M Statland, Stephen J Tapscott
Identifying the aberrant expression of DUX4 in skeletal muscle as the cause of facioscapulohumeral dystrophy (FSHD) has led to rational therapeutic development and clinical trials. Several studies support the use of MRI characteristics and the expression of DUX4-regulated genes in muscle biopsies as biomarkers of FSHD disease activity and progression. We performed lower-extremity MRI and muscle biopsies in the mid-portion of the tibialis anterior (TA) muscles bilaterally in FSHD subjects and validated our prior reports of the strong association between MRI characteristics and expression of genes regulated by DUX4 and other gene categories associated with FSHD disease activity...
January 24, 2024: Human Molecular Genetics
#63
JOURNAL ARTICLE
Heather M Ochs-Balcom, Leah Preus, Zhaohui Du, Robert C Elston, Craig C Teerlink, Guochong Jia, Xingyi Guo, Qiuyin Cai, Jirong Long, Jie Ping, Bingshan Li, Daniel O Stram, Xiao-Ou Shu, Maureen Sanderson, Guimin Gao, Thomas Ahearn, Kathryn L Lunetta, Gary Zirpoli, Melissa A Troester, Edward A Ruiz-Narváez, Stephen A Haddad, Jonine Figueroa, Esther M John, Leslie Bernstein, Jennifer J Hu, Regina G Ziegler, Sarah Nyante, Elisa V Bandera, Sue A Ingles, Nicholas Mancuso, Michael F Press, Sandra L Deming, Jorge L Rodriguez-Gil, Song Yao, Temidayo O Ogundiran, Oladosu Ojengbede, Manjeet K Bolla, Joe Dennis, Alison M Dunning, Douglas F Easton, Kyriaki Michailidou, Paul D P Pharoah, Dale P Sandler, Jack A Taylor, Qin Wang, Katie M O'Brien, Clarice R Weinberg, Cari M Kitahara, William Blot, Katherine L Nathanson, Anselm Hennis, Barbara Nemesure, Stefan Ambs, Lara E Sucheston-Campbell, Jeannette T Bensen, Stephen J Chanock, Andrew F Olshan, Christine B Ambrosone, Olufunmilayo I Olopade, David V Conti, Julie Palmer, Montserrat García-Closas, Dezheng Huo, Wei Zheng, Christopher Haiman
BACKGROUND: Expansion of genome-wide association studies across population groups is needed to improve our understanding of shared and unique genetic contributions to breast cancer. We performed association and replication studies guided by a priori linkage findings from African ancestry (AA) relative pairs. METHODS: We performed fixed-effect inverse-variance weighted meta-analysis under three significant AA breast cancer linkage peaks (3q26-27, 12q22-23, and 16q21-22) in 9241 AA cases and 10 193 AA controls...
January 23, 2024: Human Molecular Genetics
#64
JOURNAL ARTICLE
Yuanyuan Li, Chan Xu, Feng Zhao, Qinghong Liu, Xiaojian Qiu, Min Li, Yonghui Yang, Shentong Yu, Huajuan Tong, Lifang Zhang, Bing Chen, Lijuan Qu, Zihua Yu
More than 60 monogenic genes mutated in steroid-resistant nephrotic syndrome (SRNS) have been identified. Our previous study found that mutations in nucleoporin 160 kD (NUP160) are implicated in SRNS. The NUP160 gene encodes a component of the nuclear pore complex. Recently, two siblings with homozygous NUP160 mutations presented with SRNS and a nervous system disorder. However, replication of nephrotic syndrome (NS)-associated phenotypes in a mammalian model following loss of Nup160 is needed to prove that NUP160 mutations cause SRNS...
January 15, 2024: Human Molecular Genetics
#65
JOURNAL ARTICLE
Sijia Wu, Xinyu Qin, Liyu Huang
The metastatic non-small cell lung cancer (NSCLC) is one of the cancers with high incidence, poor survival, and limited treatment. Epithelial-mesenchymal transition (EMT) is the first step by which an early tumor converts to an invasive one. Studying the underlying mechanisms of EMT can help the understanding of cancer metastasis and improve the treatment. In this study, 1013 NSCLC patients and 123 NSCLC cell lines are deeply analyzed for the potential roles of alternative polyadenylation (APA) in the EMT process...
January 15, 2024: Human Molecular Genetics
#66
(no author information available yet)
No abstract text is available yet for this article.
January 13, 2024: Human Molecular Genetics
#67
JOURNAL ARTICLE
Jingxian Tang, Hanfei Xu, Zihao Xin, Quanshun Mei, Musong Gao, Tiantian Yang, Xiaoyu Zhang, Daniel Levy, Ching-Ti Liu
OBJECTIVE: This study aims to identify BMI-associated genes by integrating aggregated summary information from different omics data. METHODS: We conducted a meta-analysis to leverage information from a genome-wide association study (n = 339 224), a transcriptome-wide association study (n = 5619), and an epigenome-wide association study (n = 3743). We prioritized the significant genes with a machine learning-based method, netWAS, which borrows information from adipose tissue-specific interaction networks...
January 12, 2024: Human Molecular Genetics
#68
JOURNAL ARTICLE
Erynn E Johnson, W Michael Southern, Baird Doud, Brandon Steiger, Maria Razzoli, Alessandro Bartolomucci, James M Ervasti
Duchenne muscular dystrophy (DMD) is a lethal degenerative muscle wasting disease caused by the loss of the structural protein dystrophin with secondary pathological manifestations including metabolic dysfunction, mood and behavioral disorders. In the mildly affected mdx mouse model of DMD, brief scruff stress causes inactivity, while more severe subordination stress results in lethality. Here, we investigated the kynurenine pathway of tryptophan degradation and the nicotinamide adenine dinucleotide (NAD+) metabolic pathway in mdx mice and their involvement as possible mediators of mdx stress-related pathology...
January 5, 2024: Human Molecular Genetics
#69
JOURNAL ARTICLE
Alexis Bertrand, Ibrahima Ba, Laëtitia Kermasson, Vithura Pirabakaran, Noémie Chable, Elodie Lainey, Christelle Ménard, Faten Kallel, Capucine Picard, Sondes Hadiji, Nathalie Coolen-Allou, Elodie Blanchard, Jean-Pierre de Villartay, Despina Moshous, Marie Roelens, Isabelle Callebaut, Caroline Kannengiesser, Patrick Revy
Telomeres are nucleoprotein structures that protect the chromosome ends from degradation and fusion. Telomerase is a ribonucleoprotein complex essential to maintain the length of telomeres. Germline defects that lead to short and/or dysfunctional telomeres cause telomere biology disorders (TBDs), a group of rare and heterogeneous Mendelian diseases including pulmonary fibrosis, dyskeratosis congenita, and Høyeraal-Hreidarsson syndrome. TPP1, a telomeric factor encoded by the gene ACD, recruits telomerase at telomere and stimulates its activity via its TEL-patch domain that directly interacts with TERT, the catalytic subunit of telomerase...
January 4, 2024: Human Molecular Genetics
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JOURNAL ARTICLE
Zhaoying Li, Weijing Wang, Weilong Li, Haiping Duan, Chunsheng Xu, Xiaocao Tian, Feng Ning, Dongfeng Zhang
To control genetic background and early life milieu in genome-wide DNA methylation analysis for blood lipids, we recruited Chinese discordant monozygotic twins to explore the relationships between DNA methylations and total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TG). 132 monozygotic (MZ) twins were included with discordant lipid levels and completed data. A linear mixed model was conducted in Epigenome-wide association study (EWAS)...
December 23, 2023: Human Molecular Genetics
#71
JOURNAL ARTICLE
Hao Ding, Yuanyuan Teng, Ping Gao, Qi Zhang, Mengdi Wang, Yi Yu, Yueping Fan, Li Zhu
BACKGROUND: Developing a prognostic model for lung adenocarcinoma (LUAD) that utilizes m6A/m5C/m1A genes holds immense importance in providing precise prognosis predictions for individuals. METHODS: This study mined m6A/m5C/m1A-related differential genes in LUAD based on public databases, identified LUAD tumor subtypes based on these genes, and further built a risk prognostic model grounded in differential genes between subtypes. The immune status between high- and low-risk groups was investigated, and the distribution of feature genes in tumor immune cells was analyzed using single-cell analysis...
December 23, 2023: Human Molecular Genetics
#72
JOURNAL ARTICLE
Reilly L Allison, Allison D Ebert
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the loss of upper and lower motor neurons (MNs). The loss of MNs in ALS leads to muscle weakness and wasting, respiratory failure, and death often within two years of diagnosis. Glial cells in ALS show aberrant expression of pro-inflammatory and neurotoxic proteins associated with activation and have been proposed as ideal therapeutic targets. In this study, we examined astrocyte-targeted treatments to reduce glial activation and neuron pathology using cells differentiated from ALS patient-derived iPSC carrying SOD1 and C9ORF72 mutations...
December 21, 2023: Human Molecular Genetics
#73
JOURNAL ARTICLE
Hunter J Melton, Zichen Zhang, Chong Wu
Transcriptome-wide association studies (TWAS) integrate gene expression prediction models and genome-wide association studies (GWAS) to identify gene-trait associations. The power of TWAS is determined by the sample size of GWAS and the accuracy of the expression prediction model. Here, we present a new method, the Summary-level Unified Method for Modeling Integrated Transcriptome using Functional Annotations (SUMMIT-FA), which improves gene expression prediction accuracy by leveraging functional annotation resources and a large expression quantitative trait loci (eQTL) summary-level dataset...
December 21, 2023: Human Molecular Genetics
#74
JOURNAL ARTICLE
Elham Khosrowabadi, Cécile Mignon-Ravix, Florence Riccardi, Pierre Cacciagli, Béatrice Desnous, Sabine Sigaudy, Mathieu Milh, Laurent Villard, Lena Kjellén, Florence Molinari
Intellectual Disability (ID) is the major cause of handicap, affecting nearly 3% of the general population, and is highly genetically heterogenous with more than a thousand genes involved. Exome sequencing performed in two independent families identified the same missense variant, p.(Gly611Ser), in the NDST1 (N-deacetylase/N-sulfotransferase member 1) gene. This variant had been previously found in ID patients of two other families but has never been functionally characterized. The NDST1 gene encodes a bifunctional enzyme that catalyzes both N-deacetylation and N-sulfation of N-acetyl-glucosamine residues during heparan sulfate (HS) biosynthesis...
December 21, 2023: Human Molecular Genetics
#75
JOURNAL ARTICLE
Xiaotao Zhu, Fan Wang, Mingzhen Wang, Lin Lv, Linghui Fang, Jialu Song, Xiaohui Wang, Fengsheng Ding
BACKGROUND: Vesicle-mediated transport, vital for substance exchange and intercellular communication, is linked to tumor initiation and progression. This work was designed to study the role of vesicle-mediated transport-related genes (VMTRGs) in breast cancer (BC)prognosis. METHODS: Univariate Cox analysis was utilized to screen prognosis-related VMTRGs. BC samples underwent unsupervised clustering based on VMTRGs to analyze survival, clinical factors, and immune cell abundance across different subtypes...
December 21, 2023: Human Molecular Genetics
#76
JOURNAL ARTICLE
Elise A Lucotte, Yazdan Asgari, Pierre-Emmanuel Sugier, Mojgan Karimi, Cloé Domenighetti, Fabienne Lesueur, Anne Boland-Augé, Evgenia Ostroumova, Florent de Vathaire, Monia Zidane, Pascal Guénel, Jean-François Deleuze, Marie-Christine Boutron-Ruault, Gianluca Severi, Benoît Liquet, Thérèse Truong
Breast cancer (BC) risk is suspected to be linked to thyroid disorders, however observational studies exploring the association between BC and thyroid disorders gave conflicting results. We proposed an alternative approach by investigating the shared genetic risk factors between BC and several thyroid traits. We report a positive genetic correlation between BC and thyroxine (FT4) levels (corr = 0.13, p-value = 2.0 × 10-4) and a negative genetic correlation between BC and thyroid-stimulating hormone (TSH) levels (corr = -0...
December 12, 2023: Human Molecular Genetics
#77
JOURNAL ARTICLE
Desmond Zeya Chen, Delnaz Roshandel, Zhong Wang, Lei Sun, Andrew D Paterson
The UK Biobank is the most used dataset for genome-wide association studies (GWAS). GWAS of sex, essentially sex differences in minor allele frequencies (sdMAF), has identified autosomal SNPs with significant sdMAF, including in the UK Biobank, but the X chromosome was excluded. Our recent report identified multiple regions on the X chromosome with significant sdMAF, using short-read sequencing of other datasets. We performed a whole genome sdMAF analysis, with ~410 k white British individuals from the UK Biobank, using array genotyped, imputed or exome sequencing data...
December 9, 2023: Human Molecular Genetics
#78
JOURNAL ARTICLE
Aoife Reilly, Rebecca Yaworski, Ariane Beauvais, Bernard L Schneider, Rashmi Kothary
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by motor neuron loss and skeletal muscle atrophy. SMA is caused by the loss of the SMN1 gene and low SMN protein levels. Current SMA therapies work by increasing SMN protein in the body. Although SMA is regarded as a motor neuron disorder, growing evidence shows that several peripheral organs contribute to SMA pathology. A gene therapy treatment, onasemnogene abeparvovec, is being explored in clinical trials via both systemic and central nervous system (CNS) specific delivery, but the ideal route of delivery as well as the long-term effectiveness is unclear...
December 9, 2023: Human Molecular Genetics
#79
(no author information available yet)
No abstract text is available yet for this article.
November 23, 2023: Human Molecular Genetics
#80
JOURNAL ARTICLE
Stuart J Cannon, Timothy Hall, Gareth Hawkes, Kevin Colclough, Roisin M Boggan, Caroline F Wright, Sarah J Pickett, Andrew T Hattersley, Michael N Weedon, Kashyap A Patel
BACKGROUND: Whole genome sequencing (WGS) from large clinically unselected cohorts provides a unique opportunity to assess the penetrance and expressivity of rare and/or known pathogenic mitochondrial variants in population. METHOD: Using WGS from 179 862 clinically unselected individuals from the UK Biobank, we performed extensive single and rare variant aggregation association analyses of 15 881 mtDNA variants and 73 known pathogenic variants with 15 mitochondrial disease-relevant phenotypes...
November 21, 2023: Human Molecular Genetics
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